AutismKB 2.0

Annotation Details for UBR4


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Basic Information Top
Gene Symbol:UBR4 ( FLJ41863,KIAA0462,KIAA1307,RBAF600,ZUBR1,p600 )
Gene Full Name: ubiquitin protein ligase E3 component n-recognin 4
Band: 1p36.13
Quick LinksEntrez ID:23352; OMIM: 609890; Uniprot ID:UBR4_HUMAN; ENSEMBL ID: ENSG00000127481; HGNC ID: 30313
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0005813IDA-centrosome-
GO:0005829IDA-cytosol-
GO:0005886TAS-plasma membrane-
GO:0016020IDA-membrane19946888
GO:0016021IEA-integral component of membrane-
GO:0035579TAS-specific granule membrane-
GO:0070821TAS-tertiary granule membrane-
GO:0101003TAS-ficolin-1-rich granule membrane-
GO ID Evidence Qualifier GO_term References
GO:0004842IDA-ubiquitin-protein transferase activity23932781
GO:0005515IPI-protein binding16061792
GO:0005516IEA-calmodulin binding-
GO:0008270IEA-zinc ion binding-
GO ID Evidence Qualifier GO_term References
GO:0016032IEA-viral process-
GO:0042787IDA-protein ubiquitination involved in ubiquitin-dependent protein catabolic process23932781
GO:0043312TAS-neutrophil degranulation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
UBR4MCRS111693417353931 Affinity Capture-MS
UBR4MCRS111571017353931 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916366
  • 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