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 have clathrin binding activity. Predicted to be involved in vesicle-mediated transport. Predicted to localize to 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