AutismKB 2.0

Annotation Details for ARHGEF1


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Basic Information Top
Gene Symbol:ARHGEF1 ( GEF1,LBCL2,LSC,P115-RHOGEF,SUB1.5 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 1
Band: 19q13.2
Quick LinksEntrez ID:9138; OMIM: 601855; Uniprot ID:ARHG1_HUMAN; ENSEMBL ID: ENSG00000076928; HGNC ID: 681
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737TAS-cytoplasm10747909
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0005886IDA-plasma membrane-
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22658674
GO:0005085TAS-guanyl-nucleotide exchange factor activity-
GO:0005089TAS-Rho guanyl-nucleotide exchange factor activity-
GO:0005096IEA-GTPase activator activity-
GO:0005515IPI-protein binding12681510
GO ID Evidence Qualifier GO_term References
GO:0007266TAS-Rho protein signal transduction10747909
GO:0008283TAS-cell proliferation8810315
GO:0035023IEA-regulation of Rho protein signal transduction-
GO:0043065TAS-positive regulation of apoptotic process-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0050771TAS-negative regulation of axonogenesis-
GO:0051056TAS-regulation of small GTPase mediated signal transduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ARHGEF1RHOA11458512748184 Biochemical Activity
ARHGEF1RHOA10688012748184 Biochemical Activity
ARHGEF1ATR11458510608806 Protein-peptide
ARHGEF1ATR10702710608806 Protein-peptide
ARHGEF1CD4411458512748184 Affinity Capture-Western
ARHGEF1CD4410739812748184 Affinity Capture-Western
ARHGEF1GNA1211458514634662 Affinity Capture-Western; Reconstituted Complex
ARHGEF1GNA1210903014634662 Affinity Capture-Western; Reconstituted Complex
ARHGEF1HRAS10950112581858 Biochemical Activity
ARHGEF1HRAS11458512581858 Biochemical Activity
ARHGEF1PIK3CA11130812754211 Affinity Capture-Western
ARHGEF1PIK3CA11458512754211 Affinity Capture-Western
ARHGEF1RAP1A11458512581858 Biochemical Activity
ARHGEF1RAP1A11184112581858 Biochemical Activity
ARHGEF1SREBF211259920936779 Two-hybrid
ARHGEF1SREBF211458520936779 Two-hybrid
ARHGEF1TAF1011458517643375 Affinity Capture-MS
ARHGEF1TAF1011274417643375 Affinity Capture-MS
GNA13ARHGEF11159149641916 12681510 14634662 Affinity Capture-Western; Reconstituted Complex
GNA13ARHGEF11145859641916 12681510 14634662 Affinity Capture-Western; Reconstituted Complex
ARHGEF1ARHGEF111458514712228 Affinity Capture-Western
MEPCEARHGEF111458517643375 Affinity Capture-MS
MEPCEARHGEF112112217643375 Affinity Capture-MS
Gene Symbol Interactant Interaction ID References Description
CNKSR1ARHGEF121748315753034 CNKSR1 (hCNK1) interacts with ARHGEF1 (p115RhoGEF). This interaction was modelled on a demonstrated interaction between human CNKSR1 and ARHGEF1 from an unspecified species.
GNA13ARHGEF125779815735747 GNA13 (alpha-13) interacts with ARHGEF1 (p115RhoGEF).
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1353510
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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