Gene
ap4b1
- ID
- ZDB-GENE-040426-1284
- Name
- adaptor related protein complex 4 subunit beta 1
- Symbol
- ap4b1 Nomenclature History
- Previous Names
-
- ap4b1l
- zgc:63878 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable clathrin binding activity. Predicted to be involved in vesicle-mediated transport. Predicted to act upstream of or within intracellular protein transport. Predicted to be located in endomembrane system and membrane. Predicted to be part of clathrin adaptor complex. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 47. Orthologous to human AP4B1 (adaptor related protein complex 4 subunit beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63878 (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 |
---|---|---|---|
hereditary spastic paraplegia 47 | Alliance | Spastic paraplegia 47, autosomal recessive | 614066 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR002553 | Clathrin/coatomer adaptor, adaptin-like, N-terminal |
Domain | IPR015151 | Beta-adaptin appendage, C-terminal subdomain |
Family | IPR016342 | AP-1/2/4 complex subunit beta |
Family | IPR026739 | AP complex subunit beta |
Homologous_superfamily | IPR011989 | Armadillo-like helical |
Homologous_superfamily | IPR012295 | TBP domain superfamily |
Homologous_superfamily | IPR016024 | Armadillo-type fold |
Domain Details Per Protein
Protein | Length | AP-1/2/4 complex subunit beta | AP complex subunit beta | Armadillo-like helical | Armadillo-type fold | Beta-adaptin appendage, C-terminal subdomain | Clathrin/coatomer adaptor, adaptin-like, N-terminal | TBP domain superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3AUZ7
|
428 | |||||||
UniProtKB:Q7T3G3
|
729 |
Interactions and Pathways
No data available
Plasmids
No data available