Details for: GNAS

Gene ID: 2778

Symbol: GNAS

Ensembl ID: ENSG00000087460

Description: GNAS complex locus

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 9.49
    Marker Score: 13348
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 9.25
    Marker Score: 164259
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 6.82
    Marker Score: 2253
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 5.91
    Marker Score: 24626.5
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 5.86
    Marker Score: 4586
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 5.69
    Marker Score: 2944.5
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 5.28
    Marker Score: 2987
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 5.12
    Marker Score: 3899
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 4.94
    Marker Score: 4054.5
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 4.45
    Marker Score: 4361
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 4.21
    Marker Score: 3633
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 4.18
    Marker Score: 2947
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 4.12
    Marker Score: 36178
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 4.02
    Marker Score: 10779
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 3.97
    Marker Score: 13008
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 3.93
    Marker Score: 133801
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.86
    Marker Score: 17861
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 3.86
    Marker Score: 8793
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 3.85
    Marker Score: 3667
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 3.85
    Marker Score: 3787.5
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.84
    Marker Score: 4101
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 3.84
    Marker Score: 5911
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 3.73
    Marker Score: 2652
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 3.56
    Marker Score: 3031
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 3.48
    Marker Score: 4196
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 3.48
    Marker Score: 2325
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 3.39
    Marker Score: 8554
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 3.33
    Marker Score: 1096
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 3.32
    Marker Score: 3694
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.32
    Marker Score: 794
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 3.32
    Marker Score: 43802
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 3.31
    Marker Score: 9285.5
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 3.31
    Marker Score: 912
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.27
    Marker Score: 113304
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 3.24
    Marker Score: 2901
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 3.21
    Marker Score: 5841.5
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 3.2
    Marker Score: 5308
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 3.17
    Marker Score: 13201.5
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 3.1
    Marker Score: 2905
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.1
    Marker Score: 3745
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 3.08
    Marker Score: 1643.5
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 3.06
    Marker Score: 1068
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 3.06
    Marker Score: 2885.5
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 3.05
    Marker Score: 1524.5
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 3.05
    Marker Score: 30910.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 3.05
    Marker Score: 3093
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 3.03
    Marker Score: 3209
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 3.01
    Marker Score: 1878
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 3
    Marker Score: 1809.5
  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.99
    Marker Score: 5228
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 2.98
    Marker Score: 1920
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 2.98
    Marker Score: 15650
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 2.97
    Marker Score: 7105
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 2.96
    Marker Score: 1497
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 2.96
    Marker Score: 1287
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: 2.95
    Marker Score: 2236
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 2.94
    Marker Score: 3199
  • Cell Name: tracheobronchial serous cell (CL0019001)
    Fold Change: 2.94
    Marker Score: 1074
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 2.92
    Marker Score: 1033
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 2.89
    Marker Score: 1804
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 2.89
    Marker Score: 1170
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.89
    Marker Score: 5863
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 2.88
    Marker Score: 1174.5
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 2.87
    Marker Score: 1639
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 2.87
    Marker Score: 920
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 2.87
    Marker Score: 3358
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 2.85
    Marker Score: 14941.5
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 2.84
    Marker Score: 18491
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 2.83
    Marker Score: 3241
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 2.82
    Marker Score: 1067.5
  • Cell Name: IgA plasmablast (CL0000984)
    Fold Change: 2.82
    Marker Score: 740
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.81
    Marker Score: 9976
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 2.78
    Marker Score: 1384
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 2.78
    Marker Score: 638
  • Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
    Fold Change: 2.78
    Marker Score: 914
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 2.77
    Marker Score: 1248
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 2.77
    Marker Score: 1591
  • Cell Name: memory regulatory T cell (CL0002678)
    Fold Change: 2.77
    Marker Score: 965.5
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 2.76
    Marker Score: 1883
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.76
    Marker Score: 23949
  • Cell Name: platelet (CL0000233)
    Fold Change: 2.76
    Marker Score: 1248
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 2.75
    Marker Score: 2318
  • Cell Name: PP cell (CL0000696)
    Fold Change: 2.75
    Marker Score: 619.5
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2.75
    Marker Score: 3890
  • Cell Name: podocyte (CL0000653)
    Fold Change: 2.74
    Marker Score: 1014
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 2.74
    Marker Score: 3764
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.73
    Marker Score: 30783
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 2.73
    Marker Score: 981
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 2.73
    Marker Score: 1223
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 2.73
    Marker Score: 1404.5
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 2.72
    Marker Score: 1262
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.72
    Marker Score: 16107
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 2.71
    Marker Score: 940
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 2.71
    Marker Score: 841
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 2.71
    Marker Score: 773
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 2.71
    Marker Score: 712.5
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 2.69
    Marker Score: 1770
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 2.69
    Marker Score: 712
  • Cell Name: S cone cell (CL0003050)
    Fold Change: 2.69
    Marker Score: 808
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 2.69
    Marker Score: 1391

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Other Information

**Key characteristics:** - The GNAS complex is composed of multiple genes that work together to regulate water and electrolyte balance. - The complex is expressed in a variety of cell types, including chromaffin cells, adrenal gland cells, sympathetic neurons, and kidney cells. - Each gene in the complex is responsible for a specific aspect of water and electrolyte transport. **Pathways and functions:** - The GNAS complex is involved in several important pathways, including aquaporin-mediated transport, glucagon signaling, and the regulation of insulin secretion. - The complex is also involved in the regulation of blood pressure, electrolyte balance, and water balance. - The complex is a key regulator of blood volume and can be affected by a variety of factors, including changes in blood pressure, hormonal signals, and environmental cues. **Clinical significance:** - Mutations in the GNAS complex have been linked to a number of human diseases, including hypertension, diabetes, and kidney disease. - Understanding the function of the GNAS complex has important implications for the development of new treatments for these diseases. **Additional information:** - The GNAS complex is a large gene locus, with multiple genes encoding proteins that work together to regulate water and electrolyte balance. - The complex is regulated by a variety of factors, including blood pressure, hormonal signals, and environmental cues. - The GNAS complex is a key regulator of blood volume and can be affected by a variety of factors, including changes in blood pressure, hormonal signals, and environmental cues.

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 11 Ensembl 5 ExpressionAtlas 1 GO 10 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 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 SAM 1 SMR 1 UCSC 1 UniProtKB 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: 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 2 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 SAM 1 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 7 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 EMDB 2 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 23 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PRINTS 2 PROSITE 1 PROSITE-ProRule 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 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 4 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 7 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 42 EMDB 100 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 29 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 10 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIR 2 PRINTS 2 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 Proteomes 1 ProteomicsDB 4 Pumba 1 Reactome 12 RefSeq 7 SAM 1 SIGNOR 1 SMART 1 SMR 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 UCSC 1 UniProtKB 2 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: 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: 3135891883

Symbol: Q14455_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q14455

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 6 Gene3D 2 GenomeRNAi 1 IntAct 1 InterPro 4 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIR 2 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 RefSeq 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: 2195254734

Symbol: B0AZR9_HUMAN

Name: N/A

UniProtKB Accession Codes:

B0AZR9 A0A590UJ22 A0A590UJ58 A0A590UJI6 A0A590UJQ2 A0A590UJY8 A0A9K3Y787 S4R3E3 S4R3V9

Database IDs:

ARBA 8 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 10 EPD 1 Ensembl 11 GO 6 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 4 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 Pfam 1 Proteomes 2 RefSeq 2 SAM 1 SMART 1 SUPFAM 2 UCSC 2 VEuPathDB 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: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

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: 2072716059

Symbol: A0A7I2V5R6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A7I2V5R6

Database IDs:

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

Citations:

PubMed ID: 11780052

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

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 2870898815

Symbol: A0A0S2Z3S5_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z3S5

Database IDs:

ARBA 5 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 ExpressionAtlas 1 GO 6 Gene3D 2 GenomeRNAi 1 InterPro 4 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 Pfam 1 RefSeq 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: 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 EMBL 4 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 2 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMR 1 SUPFAM 1 SwissPalm 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11780052

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

PubMed ID: 11780052

DOI: 10.1038/414865a

Sequence Information:

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

Genular Protein ID: 174518016

Symbol: Q5FWY2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5FWY2

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 6 Gene3D 2 GenomeRNAi 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 RefSeq 4 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: 1115581643

Symbol: A0A590UJF0_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A590UJF0 A0A590UJG5 A0A590UKA4

Database IDs:

ARBA 5 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 DNASU 1 EMBL 4 EPD 1 Ensembl 4 GO 6 Gene3D 2 GeneTree 1 HGNC 1 InterPro 4 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 1 Pfam 1 Proteomes 2 RefSeq 3 SMART 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 11780052

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

PubMed ID: 11780052

DOI: 10.1038/414865a

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

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. For the full schema, download it here.