AutismKB 2.0

Annotation Details for EPHA1


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Basic Information Top
Gene Symbol:EPHA1 ( EPH,EPHT,EPHT1,MGC163163 )
Gene Full Name: EPH receptor A1
Band: 7q34-q35
Quick LinksEntrez ID:2041; OMIM: 179610; Uniprot ID:EPHA1_HUMAN; ENSEMBL ID: ENSG00000146904; HGNC ID: 3385
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane19118217
GO ID Evidence Qualifier GO_term References
GO:0004672IDA-protein kinase activity12775584
GO:0005005IDA-transmembrane-ephrin receptor activity19118217
GO:0005524IEA-ATP binding-
GO:0019901IPI-protein kinase binding19118217
GO ID Evidence Qualifier GO_term References
GO:0001525IEA-angiogenesis-
GO:0001954IDA-positive regulation of cell-matrix adhesion19118217
GO:0006469IDA-negative regulation of protein kinase activity19118217
GO:0007166IDA-cell surface receptor signaling pathway19118217
GO:0008284IMP-positive regulation of cell proliferation20043122
GO:0018108IDA-peptidyl-tyrosine phosphorylation12775584
GO:0030335IMP-positive regulation of cell migration20043122
GO:0030336IDA-negative regulation of cell migration19118217
GO:0034446IDA-substrate adhesion-dependent cell spreading19118217
GO:0035019TAS-somatic stem cell population maintenance-
GO:0043087IDA-regulation of GTPase activity19118217
GO:0045766IMP-positive regulation of angiogenesis20043122
GO:0046777IDA-protein autophosphorylation19118217
GO:0048013TAS-ephrin receptor signaling pathway-
GO:0051496ISS-positive regulation of stress fiber assembly-
GO:0090630IDA-activation of GTPase activity19118217
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EPHA1ALK10673914968112 Affinity Capture-MS; Affinity Capture-Western
EPHA1ALK10835514968112 Affinity Capture-MS; Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:107381
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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