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],
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Function:
Disease:Antibodies against STUB1 are found in patients with chronic lymphocytic leukemia (CLL) and in colorectal cancer patients.,Function:Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Has E3 ubiquitin-protein ligase activity and targets misfolded chaperone substrates towards proteasomal degradation. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation.,PTM:Auto-ubiquitinated (in vitro).,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 U-box domain.,similarity:Contains 3 TPR repeats.,subunit:Interacts with BAG2, and with the E2 ubiquitin conjugating enzymes UBE2D1, UBE2D2 and UBE2D3. Interacts with the C-terminal domains of HSPA8 and HSPA1A. Detected in a ternary complex containing STUB1, HSPA1A and HSPBP1.,tissue specificity:Highly expressed in skeletal muscle, heart, pancreas, brain and placenta. Detected in kidney, liver and lung.,
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Cellular Localization:
Cytoplasm . Nucleus . Translocates to the nucleus in response to inflammatory signals in regulatory T-cells (Treg). .
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Tissue Expression:
Expressed in differentiated myotubes (at protein level) (PubMed:17369820). Highly expressed in skeletal muscle, heart, pancreas, brain and placenta (PubMed:10330192, PubMed:11435423). Detected in kidney, liver and lung (PubMed:10330192, PubMed:11435423).
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Research Areas:
>>Ubiquitin mediated proteolysis ;
>>Protein processing in endoplasmic reticulum