STUB1 STIP1 homology and U-box containing protein 1
Gene ID: 10273, updated on 14-Nov-2024Gene type: protein coding
Also known as: CHIP; SCA48; UBOX1; SCAR16; HSPABP2; NY-CO-7; SDCCAG7
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- Go to complete Gene record for STUB1
- Go to Variation Viewer for STUB1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive spinocerebellar ataxia 16 | not available |
| Spinocerebellar ataxia 48 | not available |
Genomic context
- Location:
- 16p13.3
- Sequence:
- Chromosome: 16; NC_000016.10 (680410..682801)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STUB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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