AutismKB 2.0

Annotation Details for DIAPH1


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Basic Information Top
Gene Symbol:DIAPH1 ( DFNA1,DIA1,DRF1,FLJ25265,LFHL1,hDIA1 )
Gene Full Name: diaphanous homolog 1 (Drosophila)
Band: 5q31.3
Quick LinksEntrez ID:1729; OMIM: 602121; Uniprot ID:DIAP1_HUMAN; ENSEMBL ID: ENSG00000131504; HGNC ID: 2876
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005815IEA-microtubule organizing center-
GO:0005829TAS-cytosol-
GO:0005886TAS-plasma membrane-
GO:0030667TAS-secretory granule membrane-
GO:0032587IEA-ruffle membrane-
GO:0072686IDA-mitotic spindle15123714
GO:0101003TAS-ficolin-1-rich granule membrane-
GO ID Evidence Qualifier GO_term References
GO:0003723IDA-RNA binding22658674
GO:0003779IEA-actin binding-
GO:0005102NAS-receptor binding9360932
GO:0005515IPI-protein binding18218625
GO:0017048IEA-Rho GTPase binding-
GO:0044325IPI-ion channel binding15123714
GO ID Evidence Qualifier GO_term References
GO:0007010IMP-cytoskeleton organization21834987
GO:0007605IEA-sensory perception of sound-
GO:0008360IMP-regulation of cell shape21834987
GO:0030041IEA-actin filament polymerization-
GO:0030335IEA-positive regulation of cell migration-
GO:0032886IMP-regulation of microtubule-based process20937854
GO:0035372IMP-protein localization to microtubule15123714
GO:0043312TAS-neutrophil degranulation-
GO:0051279IMP-regulation of release of sequestered calcium ion into cytosol15123714
GO:0071420IMP-cellular response to histamine15123714
GO:2000145TAS-regulation of cell motility-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
DIAPH1APBB110681916055720 Affinity Capture-MS
DIAPH1APBB110807316055720 Affinity Capture-MS
DIAPH1RHOA10807312773565 Reconstituted Complex; Two-hybrid
DIAPH1RHOA10688012773565 Reconstituted Complex; Two-hybrid
XPO6DIAPH110807314592989 Affinity Capture-MS
XPO6DIAPH111682114592989 Affinity Capture-MS
WBP4DIAPH111636316055720 Affinity Capture-MS
WBP4DIAPH110807316055720 Affinity Capture-MS
NEDD4DIAPH110807316055720 Affinity Capture-MS
NEDD4DIAPH111081116055720 Affinity Capture-MS
PRPF40ADIAPH110807316055720 Affinity Capture-MS
PRPF40ADIAPH112079216055720 Affinity Capture-MS
GAS7DIAPH111409416055720 Affinity Capture-MS
GAS7DIAPH110807316055720 Affinity Capture-MS
TCERG1DIAPH111612016055720 Affinity Capture-MS; Affinity Capture-Western
TCERG1DIAPH110807316055720 Affinity Capture-MS; Affinity Capture-Western
SRGAP2DIAPH111695619041431 Affinity Capture-MS
SRGAP2DIAPH110807319041431 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1194490
  • 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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