AutismKB 2.0

Annotation Details for PHACTR1


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Basic Information Top
Gene Symbol:PHACTR1 ( KIAA1733,MGC126575,MGC126577,RPEL,RPEL1,dJ257A7.2 )
Gene Full Name: phosphatase and actin regulator 1
Band: 6p24.1
Quick LinksEntrez ID:221692; OMIM: 608723; Uniprot ID:PHAR1_HUMAN; ENSEMBL ID: ENSG00000112137; HGNC ID: 20990
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634ISS-nucleus-
GO:0005829ISS-cytosol-
GO:0030054IEA-cell junction-
GO:0045202IEA-synapse-
GO ID Evidence Qualifier GO_term References
GO:0003779ISS-actin binding-
GO:0004864IEA-protein phosphatase inhibitor activity-
GO:0008157IEA-protein phosphatase 1 binding-
GO ID Evidence Qualifier GO_term References
GO:0031032IMP-actomyosin structure organization22976292
GO:0031532ISS-actin cytoskeleton reorganization-
GO:0043086IEA-negative regulation of catalytic activity-
GO:0043149IMP-stress fiber assembly22976292
GO:0048870IMP-cell motility22976292
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PHACTR1ACTA112874615107502 Affinity Capture-Western
PHACTR1ACTA110657315107502 Affinity Capture-Western
PHACTR1PPP1CA11149315107502 Affinity Capture-Western; Two-hybrid
PHACTR1PPP1CA12874615107502 Affinity Capture-Western; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2659021
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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