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
- Involved in cerebellum development and thigmotaxis. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia. Orthologous to human CLPB (caseinolytic mitochondrial matrix peptidase chaperone subunit B).
- 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 | 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
|
655 |
Interactions and Pathways
No data available
Plasmids
No data available