Details for: SYNGAP1

Gene ID: 8831

Symbol: SYNGAP1

Ensembl ID: ENSG00000197283

Description: synaptic Ras GTPase activating protein 1

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: 111.9289
    Cell Significance Index: -17.4100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 64.2635
    Cell Significance Index: -16.3000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 37.4640
    Cell Significance Index: -15.2200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.8996
    Cell Significance Index: -15.1800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.1773
    Cell Significance Index: -17.4800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.8742
    Cell Significance Index: -18.4200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.4526
    Cell Significance Index: -17.5700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.5365
    Cell Significance Index: 308.2200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.9011
    Cell Significance Index: 39.8600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.8899
    Cell Significance Index: 33.7000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.6615
    Cell Significance Index: 8.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5351
    Cell Significance Index: 191.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4114
    Cell Significance Index: 284.5700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3910
    Cell Significance Index: 53.7000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3589
    Cell Significance Index: 35.5100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3296
    Cell Significance Index: 9.2100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3133
    Cell Significance Index: 282.9100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.2849
    Cell Significance Index: 14.4000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2443
    Cell Significance Index: 28.4700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2064
    Cell Significance Index: 13.0100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2058
    Cell Significance Index: 40.8500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1881
    Cell Significance Index: 30.6000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1564
    Cell Significance Index: 8.2100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1444
    Cell Significance Index: 15.7100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1363
    Cell Significance Index: 7.6500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1337
    Cell Significance Index: 25.4500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1112
    Cell Significance Index: 5.0400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0981
    Cell Significance Index: 53.5600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0885
    Cell Significance Index: 2.5500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0760
    Cell Significance Index: 4.5600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0665
    Cell Significance Index: 125.1600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0627
    Cell Significance Index: 39.7900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0601
    Cell Significance Index: 0.8200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0578
    Cell Significance Index: 0.9900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0504
    Cell Significance Index: 22.2900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0313
    Cell Significance Index: 14.2100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0298
    Cell Significance Index: 45.9200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0287
    Cell Significance Index: 0.4800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0256
    Cell Significance Index: 0.5600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0253
    Cell Significance Index: 46.5800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0185
    Cell Significance Index: 0.4000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0125
    Cell Significance Index: 1.6000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0122
    Cell Significance Index: 16.5800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0070
    Cell Significance Index: 1.2700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0067
    Cell Significance Index: 0.4700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0003
    Cell Significance Index: 0.0400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0080
    Cell Significance Index: -0.2000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0089
    Cell Significance Index: -1.3000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0119
    Cell Significance Index: -8.8500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0122
    Cell Significance Index: -0.2600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0136
    Cell Significance Index: -0.8800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0150
    Cell Significance Index: -0.4300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0185
    Cell Significance Index: -13.5800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0216
    Cell Significance Index: -16.3200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0247
    Cell Significance Index: -13.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0412
    Cell Significance Index: -3.1600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0460
    Cell Significance Index: -2.8200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0507
    Cell Significance Index: -5.8100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0609
    Cell Significance Index: -17.5300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0784
    Cell Significance Index: -13.3800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0806
    Cell Significance Index: -16.9800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0828
    Cell Significance Index: -4.3000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0919
    Cell Significance Index: -3.2300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0988
    Cell Significance Index: -10.0900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0994
    Cell Significance Index: -11.7200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1152
    Cell Significance Index: -3.6700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1166
    Cell Significance Index: -1.6700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1235
    Cell Significance Index: -15.9600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1238
    Cell Significance Index: -12.8900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1281
    Cell Significance Index: -9.0600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1283
    Cell Significance Index: -4.2000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1313
    Cell Significance Index: -2.2700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1704
    Cell Significance Index: -4.4800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1805
    Cell Significance Index: -3.5700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1848
    Cell Significance Index: -13.7700
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1855
    Cell Significance Index: -1.7700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1940
    Cell Significance Index: -4.0600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2085
    Cell Significance Index: -4.4300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2093
    Cell Significance Index: -16.5800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2340
    Cell Significance Index: -10.9100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2417
    Cell Significance Index: -12.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2427
    Cell Significance Index: -11.4100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2501
    Cell Significance Index: -8.0100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2540
    Cell Significance Index: -5.1000
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: -0.2583
    Cell Significance Index: -2.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2586
    Cell Significance Index: -7.0400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2666
    Cell Significance Index: -9.3400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.2682
    Cell Significance Index: -3.4400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2759
    Cell Significance Index: -3.4400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2786
    Cell Significance Index: -6.9500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2890
    Cell Significance Index: -11.8400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2931
    Cell Significance Index: -5.7200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2976
    Cell Significance Index: -6.4300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.3185
    Cell Significance Index: -3.4700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.3308
    Cell Significance Index: -2.5500
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.3318
    Cell Significance Index: -2.8200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3323
    Cell Significance Index: -9.7600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3364
    Cell Significance Index: -7.0200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3486
    Cell Significance Index: -4.4000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3648
    Cell Significance Index: -9.3200

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** SYNGAP1 is a negative regulator of various signaling pathways involved in neuronal development, synaptic plasticity, and cell survival. It is a GTPase-activating protein (GAP) for Ras and Rap proteins, which are small GTPases that play key roles in cellular signaling. SYNGAP1's ability to regulate these GTPases is crucial for maintaining proper neuronal function and development. **Pathways and Functions** SYNGAP1's regulatory functions are mediated through its interaction with various signaling pathways, including: 1. **Axonogenesis and Dendrite Development**: SYNGAP1 regulates the formation of axons and dendrites by modulating the activity of small GTPases involved in these processes. 2. **Glutamatergic Synapse**: SYNGAP1 is involved in the regulation of glutamatergic synapses, which are critical for learning and memory. 3. **Raf/MapK Cascade**: SYNGAP1 regulates the activity of the Raf/MapK cascade, which is involved in cell proliferation, differentiation, and survival. 4. **Ras Protein Signal Transduction**: SYNGAP1 negatively regulates Ras protein signal transduction, which is involved in cell growth, differentiation, and survival. **Clinical Significance** Dysregulation of SYNGAP1 has been implicated in various neurological disorders, including: 1. **Autism Spectrum Disorder (ASD)**: SYNGAP1 mutations have been associated with ASD, suggesting that this gene plays a critical role in neuronal development and function. 2. **Schizophrenia**: SYNGAP1 has also been implicated in schizophrenia, with studies suggesting that dysregulation of this gene may contribute to the development of the disorder. 3. **Neurodevelopmental Disorders**: SYNGAP1's role in regulating neuronal development and function makes it a potential target for the treatment of neurodevelopmental disorders. In conclusion, SYNGAP1 is a critical regulator of synaptic plasticity, neuron development, and function. Its dysregulation has been implicated in various neurological disorders, highlighting the importance of this gene in maintaining proper neuronal function and development. Further research is needed to fully understand the mechanisms by which SYNGAP1 regulates neuronal function and to develop effective treatments for disorders associated with this gene.

Genular Protein ID: 1849853993

Symbol: SYGP1_HUMAN

Name: Ras/Rap GTPase-activating protein SynGAP

UniProtKB Accession Codes:

Q96PV0 A2AB17 A2BEL6 A2BEL7 A8MQC4 Q8TCS2 Q9UGE2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 4 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 8 ExpressionAtlas 1 GO 22 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11572484

Title: Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.

PubMed ID: 11572484

DOI: 10.1093/dnares/8.4.179

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15312654

Title: SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.

PubMed ID: 15312654

DOI: 10.1016/j.neuron.2004.08.003

PubMed ID: 19196676

Title: Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

PubMed ID: 19196676

DOI: 10.1056/nejmoa0805392

PubMed ID: 21076407

Title: A de novo paradigm for mental retardation.

PubMed ID: 21076407

DOI: 10.1038/ng.712

PubMed ID: 21237447

Title: De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

PubMed ID: 21237447

DOI: 10.1016/j.biopsych.2010.11.015

PubMed ID: 23161826

Title: Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

PubMed ID: 23161826

DOI: 10.1002/humu.22248

PubMed ID: 23708187

Title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PubMed ID: 23708187

DOI: 10.1038/ng.2646

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

Sequence Information:

  • Length: 1343
  • Mass: 148284
  • Checksum: D9ABE21054677AA0
  • Sequence:
    • MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI ISGNQLLMLD 
EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY HLGRSRRKSV PGGKQYSMEG 
APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL DRTSSFRQIL PRFRSADHDR ARLMQSFKES 
HSHESLLSPS SAAEALELNL DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD 
KWIENLQRAV KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS 
ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV ATLAGRHFTE 
QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV RLKARYQTMS ILPMELYKEF 
AEYVTNHYRM LCAVLEPALN VKGKEEVASA LVHILQSTGK AKDFLSDMAM SEVDRFMERE 
HLIFRENTLA TKAIEEYMRL IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ 
ANLRMCCELA LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP 
AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN EFLELEWGSM 
QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL PQLSKEALLK LGPLPRLLND 
ISTALRNPNI QRQPSRQSER PRPQPVVLRG PSAEMQGYMM RDLNSSIDLQ SFMARGLNSS 
MDMARLPSPT KEKPPPPPPG GGKDLFYVSR PPLARSSPAY CTSSSDITEP EQKMLSVNKS 
VSMLDLQGDG PGGRLNSSSV SNLAAVGDLL HSSQASLTAA LGLRPAPAGR LSQGSGSSIT 
AAGMRLSQMG VTTDGVPAQQ LRIPLSFQNP LFHMAADGPG PPGGHGGGGG HGPPSSHHHH 
HHHHHHRGGE PPGDTFAPFH GYSKSEDLSS GVPKPPAASI LHSHSYSDEF GPSGTDFTRR 
QLSLQDNLQH MLSPPQITIG PQRPAPSGPG GGSGGGSGGG GGGQPPPLQR GKSQQLTVSA 
AQKPRPSSGN LLQSPEPSYG PARPRQQSLS KEGSIGGSGG SGGGGGGGLK PSITKQHSQT 
PSTLNPTMPA SERTVAWVSN MPHLSADIES AHIEREEYKL KEYSKSMDES RLDRVKEYEE 
EIHSLKERLH MSNRKLEEYE RRLLSQEEQT SKILMQYQAR LEQSEKRLRQ QQAEKDSQIK 
SIIGRLMLVE EELRRDHPAM AEPLPEPKKR LLDAQERQLP PLGPTNPRVT LAPPWNGLAP 
PAPPPPPRLQ ITENGEFRNT ADH

Genular Protein ID: 890057780

Symbol: B7ZCA0_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZCA0

Database IDs:

ARBA 1 Antibodypedia 1 Bgee 1 CDD 4 CTD 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 2 Gene3D 2 GeneTree 1 HGNC 1 InterPro 10 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 7 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 2 SMART 3 SMR 1 SUPFAM 3 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: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 1292
  • Mass: 142865
  • Checksum: 32B08188D2840287
  • Sequence:
    • MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI ISGNQLLMLD 
EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY HLGRSRRKSV PGGKQYSMEG 
APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL DRTSSFRQIL PRFRSADHDR ARLMQSFKES 
HSHESLLSPS SAAEALELNL DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD 
KWIENLQRAV KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS 
ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV ATLAGRHFTE 
QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV RLKARYQTMS ILPMELYKEF 
AEYVTNHYRM LCAVLEPALN VKGKEEVASA LVHILQSTGK AKDFLSDMAM SEVDRFMERE 
HLIFRENTLA TKAIEEYMRL IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ 
ANLRMCCELA LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP 
AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN EFLELEWGSM 
QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL PQLSKEALLK LGPLPRLLND 
ISTALRNPNI QRQPSRQSER PRPQPVVLRG PSAEMQGYMM RDLNSSMDMA RLPSPTKEKP 
PPPPPGGGKD LFYVSRPPLA RSSPAYCTSS SDITEPEQKM LSVNKSVSML DLQGDGPGGR 
LNSSSVSNLA AVGDLLHSSQ ASLTAALGLR PAPAGRLSQG SGSSITAAGM RLSQMGVTTD 
GVPAQQLRIP LSFQNPLFHM AADGPGPPGG HGGGGGHGPP SSHHHHHHHH HHRGGEPPGD 
TFAPFHGYSK SEDLSSGVPK PPAASILHSH SYSDEFGPSG TDFTRRQLSL QDNLQHMLSP 
PQITIGPQRP APSGPGGGSG GGSGGGGGGQ PPPLQRGKSQ QLTVSAAQKP RPSSGNLLQS 
PEPSYGPARP RQQSLSKEGS IGGSGGSGGG GGGGLKPSIT KQHSQTPSTL NPTMPASERT 
VAWVSNMPHL SADIESAHIE REEYKLKEYS KSMDESRLDR EYEEEIHSLK ERLHMSNRKL 
EEYERRLLSQ EEQTSKILMQ YQARLEQSEK RLRQQQAEKD SQIKSIIGRL MLVEEELRRD 
HPAMAEPLPE PKKRLLDAQR GSFPPWVQQT RV

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.