AutismKB 2.0

Annotation Details for HACE1


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Basic Information Top
Gene Symbol:HACE1 ( - )
Gene Full Name: HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
Band: 6q16.3
Quick LinksEntrez ID:57531; OMIM: 610876; Uniprot ID:HACE1_HUMAN; ENSEMBL ID: ENSG00000085382; HGNC ID: 21033
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IDA-Golgi membrane21988917
GO:0005783IDA-endoplasmic reticulum-
GO:0032580IEA-Golgi cisterna membrane-
GO ID Evidence Qualifier GO_term References
GO:0004842IDA-ubiquitin-protein transferase activity21988917
GO:0005515IPI-protein binding25026213
GO:0017137IDA-Rab GTPase binding21988917
GO:0048365IPI-Rac GTPase binding22036506
GO ID Evidence Qualifier GO_term References
GO:0006351IEA-transcription, DNA-templated-
GO:0006355IEA-regulation of transcription, DNA-templated-
GO:0007030IDA-Golgi organization21988917
GO:0007049IEA-cell cycle-
GO:0016567IDA-protein ubiquitination21988917
GO:0016601TAS-Rac protein signal transduction22036506
GO:0030334IMP-regulation of cell migration22036506
GO:0042787IDA-protein ubiquitination involved in ubiquitin-dependent protein catabolic process22036506
GO:0061025IMP-membrane fusion21988917
GO:0070936IDA-protein K48-linked ubiquitination22036506
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2446110
  • Data Attributes: 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