Gene
clpb
- ID
- ZDB-GENE-150227-1
- Name
- ClpB family mitochondrial disaggregase
- Symbol
- clpb Nomenclature History
- Previous Names
-
- si:ch1073-119b3.1
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable ATP hydrolysis activity. Acts upstream of or within cerebellum development and thigmotaxis. Predicted to be located in mitochondrial intermembrane space. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria type 7a; 3-methylglutaconic aciduria type 7b; and severe congenital neutropenia. Orthologous to human CLPB (ClpB family mitochondrial disaggregase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| 3-methylglutaconic aciduria type 7a | Alliance | 3-methylglutaconic aciduria, type VIIA, autosomal dominant | 619835 |
| 3-methylglutaconic aciduria type 7b | Alliance | 3-methylglutaconic aciduria, type VIIB, autosomal recessive | 616271 |
| 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | Alliance | 3-methylglutaconic aciduria, type VIIB, autosomal recessive | 616271 |
| Neutropenia, severe congenital, 9, autosomal dominant | 619813 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR003959 | ATPase, AAA-type, core |
| Domain | IPR019489 | Clp ATPase, C-terminal |
| Family | IPR001270 | ClpA/B family |
| Family | IPR050130 | ATP-dependent Clp protease/Chaperone ClpA/ClpB |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036770 | Ankyrin repeat-containing domain superfamily |
| Repeat | IPR002110 | Ankyrin repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | AAA+ ATPase domain | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | ATPase, AAA-type, core | ATP-dependent Clp protease/Chaperone ClpA/ClpB | ClpA/B family | Clp ATPase, C-terminal | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AT32 | InterPro | 655 |
Interactions and Pathways
No data available
Plasmids
No data available