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Gene : STUB1 Homo sapiens

Name  ? STIP1 homology and U-box containing protein 1 Cytological Location  16p13.3
Brief Description  STIP1 homology and U-box containing protein 1
description  This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]
  • synonyms:
  • UBOX1,
  • SDCCAG7,
  • HSPABP2,
  • UBOX1,
  • SCAR16,
  • HGNC:11427,
  • HSPABP2,
  • NM_005861,
  • CHIP,
  • NY-CO-7,
  • AF039689,
  • uc002cit.4,
  • SCA48,
  • CHIP,
  • STUB1,
  • SDCCAG7,
  • OTTHUMG00000121140,
  • NY-CO-7
  • identifiers:
  • 10273,
  • ENSG00000103266,
  • STUB1

Genome feature

Region: gene ? Length: 2658  
Location: 16:680111-682768 Cyto location: 16p13.3


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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 --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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

117 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results