ZFIN is now using GRCz12tu for Genomic Data
Gene
psmc1a
- ID
- ZDB-GENE-030131-8730
- Name
- proteasome 26S subunit, ATPase 1a
- Symbol
- psmc1a Nomenclature History
- Previous Names
-
- psmc1
- wu:fb05d04
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable proteasome-activating activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be located in cytoplasm and nucleus. Predicted to be part of proteasome regulatory particle, base subcomplex. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss. Orthologous to human PSMC1 (proteasome 26S subunit, ATPase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7145353 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | Alliance | ?Birk-Aharoni syndrome | 620071 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR003960 | ATPase, AAA-type, conserved site |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR003959 | ATPase, AAA-type, core |
| Domain | IPR032501 | Proteasomal ATPase, second OB domain |
| Domain | IPR041569 | AAA ATPase, AAA+ lid domain |
| Family | IPR050221 | 26S Proteasome Regulatory ATPase |
| Homologous_superfamily | IPR012340 | Nucleic acid-binding, OB-fold |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Additional Resources | Length | 26S Proteasome Regulatory ATPase | AAA ATPase, AAA+ lid domain | AAA+ ATPase domain | ATPase, AAA-type, conserved site | ATPase, AAA-type, core | Nucleic acid-binding, OB-fold | P-loop containing nucleoside triphosphate hydrolase | Proteasomal ATPase, second OB domain |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7ZWD1 | InterPro | 440 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
psmc1a-201
(1)
|
Ensembl | 2,248 nt | ||
| mRNA |
psmc1a-202
(1)
|
Ensembl | 589 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers