STUB1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | STUB1 |
| Official Name | STIP1 homology and U-box containing protein 1 [Source:HGNC Symbol;Acc:HGNC:11427] |
| Ensembl ID | ENSG00000103266 |
| Bio databases IDs | |
| Aliases | STIP1 homology and U-box containing protein 1 |
| Synonyms | 0610033N24Rik, 2210017D18Rik, 2310040B03RIK, CHIP, HSPABP2, NY-CO-7, SCA48, SCAR16, SDCCAG7, STIP1 homology and U-Box containing protein 1, UBOX1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human STUB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- SMAD binding
- Hsp70 protein binding
- ubiquitin protein ligase activity
- G-protein-coupled receptor binding
- heat shock protein binding
- protein binding activity, bridging
- enzyme binding
- protein domain specific binding
- enzyme
- protein binding
- kinase binding
- Modified RING finger domain
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- ubiquitin-protein transferase activity
- Tetratricopeptide repeats
- protein homodimerization
- CHIP N-terminal tetratricopeptide repeat domain
- chaperone binding
- tetratricopeptide repeat
- Anaphase-promoting complex, cyclosome, subunit 3
- charged domain
Pathways
Biological processes and signaling networks where the STUB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- spinocerebellar ataxia type 48
- autosomal recessive spinocerebellar ataxia type 16
- Alzheimer disease
- Huntington disease
- Parkinson disease
- hearing loss
- ataxia
- chronic epilepsy
- renal cancer
role in cell
- expression in
- production in
- proliferation
- phosphorylation in
- transcription in
- binding in
- transactivation in
- apoptosis
- cell death
- formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent-insoluble fractions
- focal adhesions
- Nucleus
- endosomes
- Endoplasmic Reticulum
- Mitochondria
- myofilaments
- cytosol
- nucleoplasm
- perinuclear space
- coiled body
- neurites
- Z line
- actin stress fibers
- cellular protrusions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human STUB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- positive regulation of smooth muscle cell apoptotic process
- negative regulation of smooth muscle cell apoptotic process
- positive regulation of chaperone-mediated protein complex assembly
- positive regulation of proteolysis
- MAPK cascade
- cellular response to heat
- response to ischemia
- misfolded or incompletely synthesized protein catabolic process
- endoplasmic reticulum unfolded protein response
- positive regulation of protein ubiquitination
- protein maturation
- cellular response to hypoxia
- ERBB2 signaling pathway
- cellular response to misfolded protein
- protein autoubiquitination
- protein polyubiquitination
- protein monoubiquitination
- ubiquitin-dependent protein catabolic process
- proteasomal ubiquitin-dependent protein catabolic process
- regulation of glucocorticoid metabolic process
- regulation of protein stability
- protein K63-linked ubiquitination
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- protein stabilization
- negative regulation of transforming growth factor beta receptor signaling pathway
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear inclusion body
- Z disc
- ubiquitin ligase complex
- cytoplasm
- mitochondrion
- ubiquitin conjugating enzyme complex
- cytosol
- endoplasmic reticulum
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- heat shock protein binding
- protein homodimerization activity
- ubiquitin-ubiquitin ligase activity
- ubiquitin-protein ligase activity
- G-protein coupled receptor binding
- ubiquitin protein ligase binding
- protein binding
- TPR domain binding
- SMAD binding
- tau protein binding
- chaperone binding
- R-SMAD binding
- Hsp90 protein binding
- protein binding, bridging
- kinase binding
- misfolded protein binding
- Hsp70 protein binding
- enzyme binding