ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 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 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers