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Gene : ITCH Homo sapiens

Name  ? itchy E3 ubiquitin protein ligase Cytological Location  20q11.22
Brief Description  itchy E3 ubiquitin protein ligase
Description  This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
  • synonyms:
  • AIP4,
  • NAPP1,
  • AIP4,
  • itchy (mouse homolog) E3 ubiquitin protein ligase,
  • ADMFD,
  • itchy E3 ubiquitin protein ligase homolog (mouse),
  • NM_001257137,
  • AIF4,
  • uc002xak.3,
  • ITCH,
  • HGNC:13890,
  • AF095745,
  • OTTHUMG00000032300
  • identifiers:
  • 83737,
  • ENSG00000078747,
  • ITCH

Genome feature

Region: gene ? Length: 148501  
Location: 20:34363273-34511773 Cyto location: 20q11.22


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results