Gene
stub1
- ID
- ZDB-GENE-030131-2963
- Name
- STIP1 homology and U-Box containing protein 1
- Symbol
- stub1 Nomenclature History
- Previous Names
-
- CHIP (1)
- wu:fc22f04
- zgc:56076
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable protein-folding chaperone binding activity and ubiquitin protein ligase activity. Acts upstream of or within cerebellar Purkinje cell layer structural organization. Predicted to be located in mitochondrion and nucleus. Predicted to be active in Z disc. Is expressed in several structures, including brain; digestive system; endocrine system; heart; and integument. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 16 and cerebellar ataxia type 48. Orthologous to human STUB1 (STIP1 homology and U-box containing protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56076 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Pakdaman et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive spinocerebellar ataxia 16 | Alliance | Spinocerebellar ataxia, autosomal recessive 16 | 615768 |
| cerebellar ataxia type 48 | Alliance | Spinocerebellar ataxia 48 | 618093 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003613 | U-box domain |
| Domain | IPR041312 | CHIP, N-terminal tetratricopeptide repeat domain |
| Domain | IPR045202 | CHIP , U-box domain |
| Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Repeat | IPR019734 | Tetratricopeptide repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | CHIP, N-terminal tetratricopeptide repeat domain | CHIP , U-box domain | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat | U-box domain | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:F6NGW2 | InterPro PDB | 284 | ||||||
| UniProtKB:A0A8M9P5S7 | InterPro | 291 | ||||||
| UniProtKB:F1Q8K3 | InterPro | 287 |
Interactions and Pathways
No data available
Plasmids
No data available