Details for: GNAS

Gene ID: 2778

Symbol: GNAS

Ensembl ID: ENSG00000087460

Description: GNAS complex locus

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 1071.3283
    Cell Significance Index: -166.6400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 672.0656
    Cell Significance Index: -170.4700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 452.5940
    Cell Significance Index: -186.4500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 389.6445
    Cell Significance Index: -183.9600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 371.3412
    Cell Significance Index: -150.8600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 340.1439
    Cell Significance Index: -174.9700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 274.6109
    Cell Significance Index: -184.2700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 160.7134
    Cell Significance Index: -153.4400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 148.5536
    Cell Significance Index: -183.1600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 51.4921
    Cell Significance Index: -137.9400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 47.5666
    Cell Significance Index: -187.7000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 46.1345
    Cell Significance Index: -141.7000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 39.5186
    Cell Significance Index: -86.4900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 11.0970
    Cell Significance Index: 517.4000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 8.3452
    Cell Significance Index: 222.8300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 7.7695
    Cell Significance Index: 404.7000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 6.8029
    Cell Significance Index: 776.5400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 5.5545
    Cell Significance Index: 358.3500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 4.9050
    Cell Significance Index: 673.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 4.3195
    Cell Significance Index: 203.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 4.2834
    Cell Significance Index: 2339.2800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 4.0588
    Cell Significance Index: 499.0700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 3.8840
    Cell Significance Index: 700.1700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.4813
    Cell Significance Index: 1248.6900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 3.0425
    Cell Significance Index: 1345.1800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.9957
    Cell Significance Index: 80.2700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.9304
    Cell Significance Index: 581.5500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 2.8232
    Cell Significance Index: 482.0700
  • Cell Name: peg cell (CL4033014)
    Fold Change: 2.6901
    Cell Significance Index: 62.1500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.5785
    Cell Significance Index: 333.1300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 2.5323
    Cell Significance Index: 155.6500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.4496
    Cell Significance Index: 70.2200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.4330
    Cell Significance Index: 488.0600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.2539
    Cell Significance Index: 118.3400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.9060
    Cell Significance Index: 99.0100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.8913
    Cell Significance Index: 307.6000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.8482
    Cell Significance Index: 130.7100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.5974
    Cell Significance Index: 119.0500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.5589
    Cell Significance Index: 199.8400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.4670
    Cell Significance Index: 82.3200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 1.3638
    Cell Significance Index: 108.0100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 1.2927
    Cell Significance Index: 947.7800
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: 1.2841
    Cell Significance Index: 26.7800
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.1586
    Cell Significance Index: 8.9300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.1090
    Cell Significance Index: 130.7900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.0968
    Cell Significance Index: 10.1000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5735
    Cell Significance Index: 15.6100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.4978
    Cell Significance Index: 8.5300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1921
    Cell Significance Index: 4.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1273
    Cell Significance Index: 196.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0902
    Cell Significance Index: 169.8700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0533
    Cell Significance Index: 40.3400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0454
    Cell Significance Index: 83.8100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0115
    Cell Significance Index: -2.1900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0228
    Cell Significance Index: -1.7500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0300
    Cell Significance Index: -0.7200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0364
    Cell Significance Index: -16.5300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0429
    Cell Significance Index: -27.2200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0501
    Cell Significance Index: -3.0100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0520
    Cell Significance Index: -38.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0777
    Cell Significance Index: -105.6600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0924
    Cell Significance Index: -6.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1063
    Cell Significance Index: -66.3800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1524
    Cell Significance Index: -4.2600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.2099
    Cell Significance Index: -118.3700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2102
    Cell Significance Index: -21.4700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2327
    Cell Significance Index: -8.1800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2822
    Cell Significance Index: -59.4300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3929
    Cell Significance Index: -6.5800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5320
    Cell Significance Index: -13.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5681
    Cell Significance Index: -19.7400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.5714
    Cell Significance Index: -164.4100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.6034
    Cell Significance Index: -59.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.6795
    Cell Significance Index: -98.7700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.8918
    Cell Significance Index: -25.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.9613
    Cell Significance Index: -110.1300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.9720
    Cell Significance Index: -113.2700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -1.0021
    Cell Significance Index: -69.3000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -1.2363
    Cell Significance Index: -13.4400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.3645
    Cell Significance Index: -38.9400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -1.3849
    Cell Significance Index: -150.6400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -1.3953
    Cell Significance Index: -8.4300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.5343
    Cell Significance Index: -33.2400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -1.5472
    Cell Significance Index: -70.1300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.6027
    Cell Significance Index: -166.8800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.7401
    Cell Significance Index: -37.0600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -1.8964
    Cell Significance Index: -35.0500
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -1.9905
    Cell Significance Index: -12.2500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -2.0351
    Cell Significance Index: -23.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -2.0713
    Cell Significance Index: -130.5500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -2.1090
    Cell Significance Index: -56.4200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -2.2951
    Cell Significance Index: -73.5100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -2.3043
    Cell Significance Index: -40.7200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -2.5338
    Cell Significance Index: -34.5700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -2.6949
    Cell Significance Index: -165.2200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -3.0163
    Cell Significance Index: -58.8700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -3.1703
    Cell Significance Index: -80.9900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -3.5057
    Cell Significance Index: -52.5300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -3.7865
    Cell Significance Index: -139.0000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -3.8822
    Cell Significance Index: -57.3200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The GNAS complex locus is characterized by its complex structure and function. The GNAS complex is composed of three main subunits: GNAS1, GNAS2, and GNAS3, which are encoded by separate genes. These subunits interact with a variety of receptors and ligands to regulate various physiological responses. The GNAS complex is also characterized by its ability to regulate multiple signaling pathways, including the adenylate cyclase-activating dopamine receptor signaling pathway and the glucagon signaling pathway. The GNAS complex is also involved in the regulation of metabolic processes, including glycogen synthesis and insulin secretion. **Pathways and Functions** The GNAS complex plays a crucial role in various cellular processes, including signal transduction, metabolism, and development. The GNAS complex interacts with a variety of receptors and ligands to regulate various physiological responses. Some of the key pathways and functions of the GNAS complex include: * Adenylate cyclase-activating dopamine receptor signaling pathway: The GNAS complex interacts with dopamine receptors to regulate adenylate cyclase activity, leading to increased cAMP levels and activation of downstream signaling pathways. * Glucagon signaling pathway: The GNAS complex interacts with glucagon receptors to regulate glycogen synthesis and insulin secretion. * Leishmania infection: The GNAS complex plays a role in the regulation of Leishmania parasite growth and survival. * Insulin-like growth factor receptor binding: The GNAS complex interacts with insulin-like growth factor receptors to regulate insulin-like growth factor signaling pathways. **Clinical Significance** The dysregulation of the GNAS complex has been implicated in various diseases, including cancer and metabolic disorders. Some of the key clinical significance of the GNAS complex includes: * Cancer: The dysregulation of the GNAS complex has been implicated in various types of cancer, including melanoma and thyroid cancer. * Metabolic disorders: The dysregulation of the GNAS complex has been implicated in various metabolic disorders, including type 2 diabetes and obesity. * Neurological disorders: The dysregulation of the GNAS complex has been implicated in various neurological disorders, including Parkinson's disease and schizophrenia. * Infectious diseases: The dysregulation of the GNAS complex has been implicated in various infectious diseases, including Leishmania infection. In conclusion, the GNAS complex locus is a complex gene complex that plays a crucial role in various cellular processes, including signal transduction, metabolism, and development. The dysregulation of the GNAS complex has been implicated in various diseases, including cancer and metabolic disorders. Further research is needed to fully understand the role of the GNAS complex in human disease and to develop novel therapeutic strategies to target this complex.

Genular Protein ID: 123916857

Symbol: ALEX_HUMAN

Name: Protein ALEX

UniProtKB Accession Codes:

P84996 A2A2S4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 1 ExpressionAtlas 1 GO 12 GeneCards 1 GeneReviews 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 IntAct 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PathwayCommons 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 Proteomes 1 ProteomicsDB 1 RefSeq 2 SIGNOR 1 SignaLink 1 SwissPalm 1 UCSC 1 VEuPathDB 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 12719376

Title: Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.

PubMed ID: 12719376

DOI: 10.1093/hmg/ddg130

PubMed ID: 15148396

Title: XL alpha-s, the extra-long form of the alpha subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex.

PubMed ID: 15148396

DOI: 10.1073/pnas.0308758101

PubMed ID: 11067869

Title: A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

PubMed ID: 11067869

DOI: 10.1172/jci10431

PubMed ID: 11294659

Title: Paternal uniparental isodisomy of chromosome 20q -- and the resulting changes in GNAS1 methylation -- as a plausible cause of pseudohypoparathyroidism.

PubMed ID: 11294659

DOI: 10.1086/320117

PubMed ID: 11029463

Title: Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.

PubMed ID: 11029463

DOI: 10.1074/jbc.m006032200

PubMed ID: 12858292

Title: Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.

PubMed ID: 12858292

DOI: 10.1086/377136

PubMed ID: 12727968

Title: Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.

PubMed ID: 12727968

DOI: 10.1210/jc.2002-021362

PubMed ID: 14561710

Title: Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

PubMed ID: 14561710

DOI: 10.1172/jci19159

PubMed ID: 15800843

Title: A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

PubMed ID: 15800843

DOI: 10.1086/429932

PubMed ID: 15592469

Title: Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

PubMed ID: 15592469

DOI: 10.1038/ng1487

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 626
  • Mass: 67948
  • Checksum: F4CEFA7FA5917EEC
  • Sequence:
    • MMARPVDPQR SPDPTFRSST RHSGKLEPME ATAHLLRKQC PSRLNSPAWE ASGLHWSSLD 
SPVGSMQALR PSAQHSWSPE PSVVPDQAWE DTALHQKKLC PLSLTSLPRE AAVNFSYRSQ 
TLLQEAQVLQ GSPELLPRSP KPSGLQRLAP EEATALPLRR LCHLSLMEKD LGTTAHPRGF 
PELSHKSTAA ASSRQSRPRV RSASLPPRTR LPSGSQAPSA AHPKRLSDLL LTSRAAAPGW 
RSPDPRSRLA APPLGSTTLP STWTAPQSRL TARPSRSPEP QIRESEQRDP QLRRKQQRWK 
EPLMPRREEK YPLRGTDPLP PGQPQRIPLP GQPLQPQPIL TPGQPQKIPT PGQHQPILTP 
GHSQPIPTPG QPLPPQPIPT PGRPLTPQPI PTPGRPLTPQ PIQMPGRPLR LPPPLRLLRP 
GQPMSPQLRQ TQGLPLPQPL LPPGQPKSAG RPLQPLPPGP DARSISDPPA PRSRLPIRLL 
RGLLARLPGG ASPRAAAAAA CTTMKGWPAA TMTPAETSPT MGPPDASAGF SIGEIAAAES 
PSATYSATFS CKPSGAASVD LRVPSPKPRA LSRSRRYPWR RSADRCAKKP WRSGPRSAQR 
RNAVSSSTNN SRTKRWATCV RTACCF

Genular Protein ID: 3405233538

Symbol: GNAS1_HUMAN

Name: Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas

UniProtKB Accession Codes:

Q5JWF2 A2A2S3 E1P5G3 O75684 O75685 Q5JW67 Q5JWF1 Q9NY42

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EMDB 5 Ensembl 3 ExpressionAtlas 1 GO 24 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 MIM 8 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PRINTS 2 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 12 RefSeq 3 Rhea 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 10749992

Title: An imprinted antisense transcript at the human GNAS1 locus.

PubMed ID: 10749992

DOI: 10.1093/hmg/9.5.835

PubMed ID: 9707596

Title: The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.

PubMed ID: 9707596

DOI: 10.1073/pnas.95.17.10038

PubMed ID: 16110341

Title: Oscillating evolution of a mammalian locus with overlapping reading frames: an XLalphas/ALEX relay.

PubMed ID: 16110341

DOI: 10.1371/journal.pgen.0010018

PubMed ID: 11788646

Title: GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.

PubMed ID: 11788646

DOI: 10.1210/jcem.87.1.8133

PubMed ID: 15148396

Title: XL alpha-s, the extra-long form of the alpha subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex.

PubMed ID: 15148396

DOI: 10.1073/pnas.0308758101

PubMed ID: 11067869

Title: A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

PubMed ID: 11067869

DOI: 10.1172/jci10431

PubMed ID: 11294659

Title: Paternal uniparental isodisomy of chromosome 20q -- and the resulting changes in GNAS1 methylation -- as a plausible cause of pseudohypoparathyroidism.

PubMed ID: 11294659

DOI: 10.1086/320117

PubMed ID: 11029463

Title: Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.

PubMed ID: 11029463

DOI: 10.1074/jbc.m006032200

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 11583302

Title: Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding.

PubMed ID: 11583302

PubMed ID: 12858292

Title: Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.

PubMed ID: 12858292

DOI: 10.1086/377136

PubMed ID: 12719376

Title: Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.

PubMed ID: 12719376

DOI: 10.1093/hmg/ddg130

PubMed ID: 12727968

Title: Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.

PubMed ID: 12727968

DOI: 10.1210/jc.2002-021362

PubMed ID: 14561710

Title: Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

PubMed ID: 14561710

DOI: 10.1172/jci19159

PubMed ID: 15800843

Title: A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

PubMed ID: 15800843

DOI: 10.1086/429932

PubMed ID: 15592469

Title: Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

PubMed ID: 15592469

DOI: 10.1038/ng1487

PubMed ID: 27120771

Title: Polyhydramnios, transient antenatal Bartter's syndrome, and MAGED2 mutations.

PubMed ID: 27120771

DOI: 10.1056/nejmoa1507629

Sequence Information:

  • Length: 1037
  • Mass: 111025
  • Checksum: 02CB52383015E75D
  • Sequence:
    • MGVRNCLYGN NMSGQRDIPP EIGEQPEQPP LEAPGAAAPG AGPSPAEEME TEPPHNEPIP 
VENDGEACGP PEVSRPNFQV LNPAFREAGA HGSYSPPPEE AMPFEAEQPS LGGFWPTLEQ 
PGFPSGVHAG LEAFGPALME PGAFSGARPG LGGYSPPPEE AMPFEFDQPA QRGCSQLLLQ 
VPDLAPGGPG AAGVPGAPPE EPQALRPAKA GSRGGYSPPP EETMPFELDG EGFGDDSPPP 
GLSRVIAQVD GSSQFAAVAA SSAVRLTPAA NAPPLWVPGA IGSPSQEAVR PPSNFTGSSP 
WMEISGPPFE IGSAPAGVDD TPVNMDSPPI ALDGPPIKVS GAPDKRERAE RPPVEEEAAE 
MEGAADAAEG GKVPSPGYGS PAAGAASADT AARAAPAAPA DPDSGATPED PDSGTAPADP 
DSGAFAADPD SGAAPAAPAD PDSGAAPDAP ADPDSGAAPD APADPDAGAA PEAPAAPAAA 
ETRAAHVAPA APDAGAPTAP AASATRAAQV RRAASAAPAS GARRKIHLRP PSPEIQAADP 
PTPRPTRASA WRGKSESSRG RRVYYDEGVA SSDDDSSGDE SDDGTSGCLR WFQHRRNRRR 
RKPQRNLLRN FLVQAFGGCF GRSESPQPKA SRSLKVKKVP LAEKRRQMRK EALEKRAQKR 
AEKKRSKLID KQLQDEKMGY MCTHRLLLLG AGESGKSTIV KQMRILHVNG FNGEGGEEDP 
QAARSNSDGE KATKVQDIKN NLKEAIETIV AAMSNLVPPV ELANPENQFR VDYILSVMNV 
PDFDFPPEFY EHAKALWEDE GVRACYERSN EYQLIDCAQY FLDKIDVIKQ ADYVPSDQDL 
LRCRVLTSGI FETKFQVDKV NFHMFDVGGQ RDERRKWIQC FNDVTAIIFV VASSSYNMVI 
REDNQTNRLQ EALNLFKSIW NNRWLRTISV ILFLNKQDLL AEKVLAGKSK IEDYFPEFAR 
YTTPEDATPE PGEDPRVTRA KYFIRDEFLR ISTASGDGRH YCYPHFTCAV DTENIRRVFN 
DCRDIIQRMH LRQYELL

Genular Protein ID: 3547340420

Symbol: GNAS2_HUMAN

Name: Guanine nucleotide-binding protein G(s) subunit alpha isoforms short

UniProtKB Accession Codes:

P63092 A6NI00 E1P5G5 P04895 Q12927 Q14433 Q32P26 Q5JWD2 Q5JWD4 Q5JWD5 Q6NR75 Q6NXS0 Q8TBC0 Q96H70

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CORUM 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 42 EMDB 100 Ensembl 4 ExpressionAtlas 1 GO 33 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 15 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 10 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIR 2 PRINTS 2 PROSITE 1 PathwayCommons 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 ProteomicsDB 4 Pumba 1 Reactome 12 RefSeq 7 Rhea 2 SIGNOR 1 SMART 1 SMR 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 UCSC 1 VEuPathDB 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3093273

Title: Identification by molecular cloning of two forms of the alpha-subunit of the human liver stimulatory (GS) regulatory component of adenylyl cyclase.

PubMed ID: 3093273

DOI: 10.1016/0014-5793(86)81336-9

PubMed ID: 3131741

Title: Complete cDNA sequence of a human stimulatory GTP-binding protein alpha subunit.

PubMed ID: 3131741

DOI: 10.1093/nar/16.8.3585

PubMed ID: 3127824

Title: Isolation and characterization of the human Gs alpha gene.

PubMed ID: 3127824

DOI: 10.1073/pnas.85.7.2081

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3024154

Title: Human cDNA clones for four species of G alpha s signal transduction protein.

PubMed ID: 3024154

DOI: 10.1073/pnas.83.23.8893

PubMed ID: 15242332

Title: Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.

PubMed ID: 15242332

DOI: 10.1042/bj20040647

PubMed ID: 12391161

Title: Direct binding of the beta1 adrenergic receptor to the cyclic AMP-dependent guanine nucleotide exchange factor CNrasGEF leads to Ras activation.

PubMed ID: 12391161

DOI: 10.1128/mcb.22.22.7942-7952.2002

PubMed ID: 17110384

Title: Conditional stimulation of type V and VI adenylyl cyclases by G protein betagamma subunits.

PubMed ID: 17110384

DOI: 10.1074/jbc.m607522200

PubMed ID: 20852621

Title: Cryptochrome mediates circadian regulation of cAMP signaling and hepatic gluconeogenesis.

PubMed ID: 20852621

DOI: 10.1038/nm.2214

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21044946

Title: Site-specific analysis of protein S-acylation by resin-assisted capture.

PubMed ID: 21044946

DOI: 10.1194/jlr.d011106

PubMed ID: 23994616

Title: A novel Galphas-binding protein, Gas-2 like 2, facilitates the signaling of the A2A adenosine receptor.

PubMed ID: 23994616

DOI: 10.1016/j.bbamcr.2013.08.009

PubMed ID: 23333244

Title: SASH1 regulates melanocyte transepithelial migration through a novel Galphas-SASH1-IQGAP1-E-cadherin dependent pathway.

PubMed ID: 23333244

DOI: 10.1016/j.cellsig.2012.12.025

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26206488

Title: Adenylyl cyclase 5 regulation by Gbetagamma involves isoform specific use of multiple interaction sites.

PubMed ID: 26206488

DOI: 10.1124/mol.115.099556

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 35714614

Title: GPCRs steer Gi and Gs selectivity via TM5-TM6 switches as revealed by structures of serotonin receptors.

PubMed ID: 35714614

DOI: 10.1016/j.molcel.2022.05.031

PubMed ID: 37327704

Title: Structural insight into the selective agonist ST1936 binding of serotonin receptor 5-HT6.

PubMed ID: 37327704

DOI: 10.1016/j.bbrc.2023.05.126

PubMed ID: 37935377

Title: Recognition of methamphetamine and other amines by trace amine receptor TAAR1.

PubMed ID: 37935377

DOI: 10.1038/s41586-023-06775-1

PubMed ID: 37935376

Title: Ligand recognition and G-protein coupling of trace amine receptor TAAR1.

PubMed ID: 37935376

DOI: 10.1038/s41586-023-06804-z

PubMed ID: 8388883

Title: Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.

PubMed ID: 8388883

DOI: 10.1210/jcem.76.6.8388883

PubMed ID: 1594625

Title: Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

PubMed ID: 1594625

DOI: 10.1073/pnas.89.11.5152

PubMed ID: 1944469

Title: Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

PubMed ID: 1944469

DOI: 10.1056/nejm199112123252403

PubMed ID: 2549426

Title: GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

PubMed ID: 2549426

DOI: 10.1038/340692a0

PubMed ID: 7523385

Title: A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.

PubMed ID: 7523385

DOI: 10.1016/s0021-9258(18)47261-4

PubMed ID: 8072545

Title: Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function.

PubMed ID: 8072545

DOI: 10.1038/371164a0

PubMed ID: 7751320

Title: Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene.

PubMed ID: 7751320

DOI: 10.1007/bf01366965

PubMed ID: 7737262

Title: G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas.

PubMed ID: 7737262

DOI: 10.1111/j.1365-2362.1995.tb01537.x

PubMed ID: 8766942

Title: Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients.

PubMed ID: 8766942

DOI: 10.1530/eje.0.1340720

PubMed ID: 8702665

Title: Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.

PubMed ID: 8702665

DOI: 10.1074/jbc.271.33.19653

PubMed ID: 9267696

Title: Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone.

PubMed ID: 9267696

DOI: 10.1016/s8756-3282(97)00107-5

PubMed ID: 9328353

Title: A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.

PubMed ID: 9328353

DOI: 10.1210/mend.11.11.0013

PubMed ID: 9159128

Title: Conditional activation defect of a human Gsalpha mutant.

PubMed ID: 9159128

DOI: 10.1073/pnas.94.11.5656

PubMed ID: 9727013

Title: A novel mutation in the switch 3 region of Gs-alpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.

PubMed ID: 9727013

DOI: 10.1074/jbc.273.37.23976

PubMed ID: 10571700

Title: A novel GNAS1 mutation, R201G, in McCune-albright syndrome.

PubMed ID: 10571700

DOI: 10.1359/jbmr.1999.14.11.1987

PubMed ID: 10200251

Title: A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity.

PubMed ID: 10200251

DOI: 10.1073/pnas.96.8.4268

PubMed ID: 11067869

Title: A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

PubMed ID: 11067869

DOI: 10.1172/jci10431

PubMed ID: 11294659

Title: Paternal uniparental isodisomy of chromosome 20q -- and the resulting changes in GNAS1 methylation -- as a plausible cause of pseudohypoparathyroidism.

PubMed ID: 11294659

DOI: 10.1086/320117

PubMed ID: 11029463

Title: Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.

PubMed ID: 11029463

DOI: 10.1074/jbc.m006032200

PubMed ID: 11450852

Title: Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.

PubMed ID: 11450852

DOI: 10.1007/s100380170062

PubMed ID: 11600516

Title: Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

PubMed ID: 11600516

DOI: 10.1210/jcem.86.10.7946

PubMed ID: 11788646

Title: GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.

PubMed ID: 11788646

DOI: 10.1210/jcem.87.1.8133

PubMed ID: 11926205

Title: Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a.

PubMed ID: 11926205

DOI: 10.1515/jpem.2002.15.3.259

PubMed ID: 12858292

Title: Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.

PubMed ID: 12858292

DOI: 10.1086/377136

PubMed ID: 12624854

Title: Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.

PubMed ID: 12624854

DOI: 10.1086/374566

PubMed ID: 12656668

Title: A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.

PubMed ID: 12656668

DOI: 10.1530/eje.0.1480463

PubMed ID: 12727968

Title: Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.

PubMed ID: 12727968

DOI: 10.1210/jc.2002-021362

PubMed ID: 14561710

Title: Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

PubMed ID: 14561710

DOI: 10.1172/jci19159

PubMed ID: 14723729

Title: Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene.

PubMed ID: 14723729

DOI: 10.1111/j.1365-2230.2004.01439.x

PubMed ID: 15800843

Title: A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

PubMed ID: 15800843

DOI: 10.1086/429932

PubMed ID: 15817905

Title: Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.

PubMed ID: 15817905

DOI: 10.1530/eje.1.01879

PubMed ID: 15592469

Title: Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

PubMed ID: 15592469

DOI: 10.1038/ng1487

PubMed ID: 21488135

Title: Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalpha-receptor interaction.

PubMed ID: 21488135

DOI: 10.1002/humu.21489

Sequence Information:

  • Length: 394
  • Mass: 45665
  • Checksum: CD541181FC4412EF
  • Sequence:
    • MGCLGNSKTE DQRNEEKAQR EANKKIEKQL QKDKQVYRAT HRLLLLGAGE SGKSTIVKQM 
RILHVNGFNG EGGEEDPQAA RSNSDGEKAT KVQDIKNNLK EAIETIVAAM SNLVPPVELA 
NPENQFRVDY ILSVMNVPDF DFPPEFYEHA KALWEDEGVR ACYERSNEYQ LIDCAQYFLD 
KIDVIKQADY VPSDQDLLRC RVLTSGIFET KFQVDKVNFH MFDVGGQRDE RRKWIQCFND 
VTAIIFVVAS SSYNMVIRED NQTNRLQEAL NLFKSIWNNR WLRTISVILF LNKQDLLAEK 
VLAGKSKIED YFPEFARYTT PEDATPEPGE DPRVTRAKYF IRDEFLRIST ASGDGRHYCY 
PHFTCAVDTE NIRRVFNDCR DIIQRMHLRQ YELL

Genular Protein ID: 1389527503

Symbol: GNAS3_HUMAN

Name: Neuroendocrine secretory protein 55

UniProtKB Accession Codes:

O95467 B2RB88 E1P5G2 O95417

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 5 ExpressionAtlas 1 GO 10 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 IntAct 1 InterPro 1 KEGG 1 MIM 6 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PathwayCommons 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 Proteomes 1 ProteomicsDB 1 RefSeq 8 SMR 1 UCSC 1 VEuPathDB 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9860993

Title: Bidirectional imprinting of a single gene: human GNAS1 encodes distinct maternally, paternally and biallelically derived proteins.

PubMed ID: 9860993

DOI: 10.1073/pnas.95.26.15475

PubMed ID: 10749992

Title: An imprinted antisense transcript at the human GNAS1 locus.

PubMed ID: 10749992

DOI: 10.1093/hmg/9.5.835

PubMed ID: 10729789

Title: Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein.

PubMed ID: 10729789

DOI: 10.1159/000054535

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11067869

Title: A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

PubMed ID: 11067869

DOI: 10.1172/jci10431

PubMed ID: 11294659

Title: Paternal uniparental isodisomy of chromosome 20q -- and the resulting changes in GNAS1 methylation -- as a plausible cause of pseudohypoparathyroidism.

PubMed ID: 11294659

DOI: 10.1086/320117

PubMed ID: 11029463

Title: Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.

PubMed ID: 11029463

DOI: 10.1074/jbc.m006032200

PubMed ID: 12858292

Title: Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.

PubMed ID: 12858292

DOI: 10.1086/377136

PubMed ID: 12727968

Title: Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.

PubMed ID: 12727968

DOI: 10.1210/jc.2002-021362

PubMed ID: 14561710

Title: Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

PubMed ID: 14561710

DOI: 10.1172/jci19159

PubMed ID: 15800843

Title: A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

PubMed ID: 15800843

DOI: 10.1086/429932

PubMed ID: 15592469

Title: Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

PubMed ID: 15592469

DOI: 10.1038/ng1487

Sequence Information:

  • Length: 245
  • Mass: 28029
  • Checksum: 4F02B8B1115089E2
  • Sequence:
    • MDRRSRAQQW RRARHNYNDL CPPIGRRAAT ALLWLSCSIA LLRALATSNA RAQQRAAAQQ 
RRSFLNAHHR SGAQVFPESP ESESDHEHEE ADLELSLPEC LEYEEEFDYE TESETESEIE 
SETDFETEPE TAPTTEPETE PEDDRGPVVP KHSTFGQSLT QRLHALKLRS PDASPSRAPP 
STQEPQSPRE GEELKPEDKD PRDPEESKEP KEEKQRRRCK PKKPTRRDAS PESPSKKGPI 
PIRRH

Genular Protein ID: 1115581643

Symbol: A0A590UJF0_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A590UJF0 A0A590UJG5 A0A590UKA4

Database IDs:

ARBA 9 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 4 GO 6 Gene3D 2 GeneTree 1 HGNC 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 3 RuleBase 1 SMART 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 320
  • Mass: 37513
  • Checksum: 9BD904D51DC75A0F
  • Sequence:
    • MRILHVNGFN GDEKATKVQD IKNNLKEAIE TIVAAMSNLV PPVELANPEN QFRVDYILSV 
MNVPDFDFPP EFYEHAKALW EDEGVRACYE RSNEYQLIDC AQYFLDKIDV IKQADYVPSD 
QDLLRCRVLT SGIFETKFQV DKVNFHMFDV GGQRDERRKW IQCFNDVTAI IFVVASSSYN 
MVIREDNQTN RLQEALNLFK SIWNNRWLRT ISVILFLNKQ DLLAEKVLAG KSKIEDYFPE 
FARYTTPEDA TPEPGEDPRV TRAKYFIRDE FLRISTASGD GRHYCYPHFT CAVDTENIRR 
VFNDCRDIIQ RMHLRQYELL

Genular Protein ID: 2195254734

Symbol: B0AZR9_HUMAN

Name: N/A

UniProtKB Accession Codes:

B0AZR9 A0A590UJ22 A0A590UJ58 A0A590UJI6 A0A590UJQ2 A0A590UJY8 A0A9K3Y787 S4R3E3 S4R3V9

Database IDs:

ARBA 5 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 11 GO 6 Gene3D 2 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 2 RuleBase 1 SAM 1 SMART 1 SUPFAM 2 UCSC 2 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 335
  • Mass: 38998
  • Checksum: C489E18A6B0EA202
  • Sequence:
    • MRILHVNGFN GEGGEEDPQA ARSNSDGEKA TKVQDIKNNL KEAIETIVAA MSNLVPPVEL 
ANPENQFRVD YILSVMNVPD FDFPPEFYEH AKALWEDEGV RACYERSNEY QLIDCAQYFL 
DKIDVIKQAD YVPSDQDLLR CRVLTSGIFE TKFQVDKVNF HMFDVGGQRD ERRKWIQCFN 
DVTAIIFVVA SSSYNMVIRE DNQTNRLQEA LNLFKSIWNN RWLRTISVIL FLNKQDLLAE 
KVLAGKSKIE DYFPEFARYT TPEDATPEPG EDPRVTRAKY FIRDEFLRIS TASGDGRHYC 
YPHFTCAVDT ENIRRVFNDC RDIIQRMHLR QYELL

Genular Protein ID: 2870898815

Symbol: A0A0S2Z3S5_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z3S5

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 13 Gene3D 2 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 Pfam 1 RefSeq 1 RuleBase 1 SAM 1 SMART 1 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 380
  • Mass: 44266
  • Checksum: C3D8B1E786EBC618
  • Sequence:
    • MGCLGNSKTE DQRNEEKAQR EANKKIEKQL QKDKQVYRAT HRLLLLGAGE SGKSTIVKQM 
RILHVNGFNG DSEKATKVQD IKNNLKEAIE TIVAAMSNLV PPVELANPEN QFRVDYILSV 
MNVPDFDFPP EFYEHAKALW EDEGVRACYE RSNEYQLIDC AQYFLDKIDV IKQADYVPSD 
QDLLRCRVLT SGIFETKFQV DKVNFHMFDV GGQRDERRKW IQCFNDVTAI IFVVASSSYN 
MVIREDNQTN RLQEALNLFK SIWNNRWLRT ISVILFLNKQ DLLAEKVLAG KSKIEDYFPE 
FARYTTPEDA TPEPGEDPRV TRAKYFIRDE FLRISTASGD GRHYCYPHFT CAVDTENIRR 
VFNDCRDIIQ RMHLRQYELL

Genular Protein ID: 2072716059

Symbol: A0A7I2V5R6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A7I2V5R6

Database IDs:

ARBA 5 AlphaFoldDB 1 Bgee 1 CDD 2 CTD 1 DisGeNET 1 EMBL 4 Ensembl 2 GO 6 Gene3D 2 GeneTree 1 HGNC 1 InterPro 4 NCBI Taxonomy 1 PANTHER 2 PRINTS 2 PROSITE 1 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 1 SMR 1 SUPFAM 2

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 1038
  • Mass: 111112
  • Checksum: 5EA773EB3D6AB583
  • Sequence:
    • MGVRNCLYGN NMSGQRDIPP EIGEQPEQPP LEAPGAAAPG AGPSPAEEME TEPPHNEPIP 
VENDGEACGP PEVSRPNFQV LNPAFREAGA HGSYSPPPEE AMPFEAEQPS LGGFWPTLEQ 
PGFPSGVHAG LEAFGPALME PGAFSGARPG LGGYSPPPEE AMPFEFDQPA QRGCSQLLLQ 
VPDLAPGGPG AAGVPGAPPE EPQALRPAKA GSRGGYSPPP EETMPFELDG EGFGDDSPPP 
GLSRVIAQVD GSSQFAAVAA SSAVRLTPAA NAPPLWVPGA IGSPSQEAVR PPSNFTGSSP 
WMEISGPPFE IGSAPAGVDD TPVNMDSPPI ALDGPPIKVS GAPDKRERAE RPPVEEEAAE 
MEGAADAAEG GKVPSPGYGS PAAGAASADT AARAAPAAPA DPDSGATPED PDSGTAPADP 
DSGAFAADPD SGAAPAAPAD PDSGAAPDAP ADPDSGAAPD APADPDAGAA PEAPAAPAAA 
ETRAAHVAPA APDAGAPTAP AASATRAAQV RRAASAAPAS GARRKIHLRP PSPEIQAADP 
PTPRPTRASA WRGKSESSRG RRVYYDEGVA SSDDDSSGDE SDDGTSGCLR WFQHRRNRRR 
RKPQRNLLRN FLVQAFGGCF GRSESPQPKA SRSLKVKKVP LAEKRRQMRK EALEKRAQKR 
AEKKRSKLID KQLQDEKMGY MCTHRLLLLG AGESGKSTIV KQMRILHVNG FNGEGGEEDP 
QAARSNSDGS EKATKVQDIK NNLKEAIETI VAAMSNLVPP VELANPENQF RVDYILSVMN 
VPDFDFPPEF YEHAKALWED EGVRACYERS NEYQLIDCAQ YFLDKIDVIK QADYVPSDQD 
LLRCRVLTSG IFETKFQVDK VNFHMFDVGG QRDERRKWIQ CFNDVTAIIF VVASSSYNMV 
IREDNQTNRL QEALNLFKSI WNNRWLRTIS VILFLNKQDL LAEKVLAGKS KIEDYFPEFA 
RYTTPEDATP EPGEDPRVTR AKYFIRDEFL RISTASGDGR HYCYPHFTCA VDTENIRRVF 
NDCRDIIQRM HLRQYELL

Genular Protein ID: 3135891883

Symbol: Q14455_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q14455

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 14 Gene3D 2 IntAct 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIR 2 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 RefSeq 1 RuleBase 1 SAM 1 SMART 1 SUPFAM 2

Citations:

PubMed ID: 1716359

Title: Differential expression of novel Gs alpha signal transduction protein cDNA species.

PubMed ID: 1716359

DOI: 10.1093/nar/19.17.4725

Sequence Information:

  • Length: 419
  • Mass: 47154
  • Checksum: 9995141C311578DC
  • Sequence:
    • PVRSSAPRRG HSVASAPRSG LRQVAGRRGA ALPCSLAPGC GAAAGASPCP GAGRRRAAGG 
RCLACECTSL TCAGESGKST IVKQMRILHV NGFNGEGGEE DPQAARSNSD GEKATKVQDI 
KNNLKEAIET IVAAMSNLVP PVELANPENQ FRVDYILSVM NVPDFDFPPE FYEHAKALWE 
DEGVRACYER SNEYQLIDCA QYFLDKIDVI KQADYVPSDQ DLLRCRVLTS GIFETKFQVD 
KVNFHMFDVG GQRDERRKWI QCFNDVTAII FVVASSSYNM VIREDNQTNR LQEALNLFKS 
IWNNRWLRTI SVILFLNKQD LLAEKVLAGK SKIEDYFPEF ARYTTPEDAT PEPGEDPRVT 
RAKYFIRDEF LRISTASGDG RHYCYPHFTC AVDTENIRRV FNDCRDIIQR MHLRQYELL

Genular Protein ID: 174518016

Symbol: Q5FWY2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5FWY2

Database IDs:

ARBA 9 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 13 Gene3D 2 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 RefSeq 4 RuleBase 1 SAM 1 SMART 1 SUPFAM 2

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 380
  • Mass: 44250
  • Checksum: D398BDA79AEBC618
  • Sequence:
    • MGCLGNSKTE DQRNEEKAQR EANKKIEKQL QKDKQVYRAT HRLLLLGAGE SGKSTIVKQM 
RILHVNGFNG DSEKATKVQD IKNNLKEAIE TIVAAMSNLV PPVELANPEN QFRVDYILSV 
MNVPDFDFPP EFYEHAKALW EDEGVRACYE RSNEYQLIDC AQYFLDKIDV IKQADYVPSD 
QDLLRCRVLT SGIFETKFQV DKVNFHMFDV GGQRDERRKW IQCFNDVTAI IFVVASSSYN 
MVIREDNQTN RLQEALNPFK SIWNNRWLRT ISVILFLNKQ DLLAEKVLAG KSKIEDYFPE 
FARYTTPEDA TPEPGEDPRV TRAKYFIRDE FLRISTASGD GRHYCYPHFT CAVDTENIRR 
VFNDCRDIIQ RMHLRQYELL

Genular Protein ID: 204933498

Symbol: Q5JWD1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5JWD1

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 2 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 SMR 1 SUPFAM 1 SwissPalm 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 87
  • Mass: 9638
  • Checksum: D9E212AD18DB7FA5
  • Sequence:
    • MGCLGNSKTE DQRNEEKAQR EANKKIEKQL QKDKQVYRAT HRLLLLGAGE SGKSTIVKQM 
RILHVNGFNG EGGEEDPQAA RSNSDGI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.