Gene
ap3b1a
- ID
- ZDB-GENE-031112-8
- Name
- adaptor related protein complex 3 subunit beta 1a
- Symbol
- ap3b1a Nomenclature History
- Previous Names
-
- ap3b1
- cb964 (1)
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to localize to AP-3 adaptor complex and clathrin adaptor complex. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 2; interstitial lung disease; neutropenia; and pulmonary fibrosis. Is expressed in several structures, including axial vasculature; intermediate cell mass of mesoderm; optic vesicle; ventral mesoderm; and yolk syncytial layer. Orthologous to human AP3B1 (adaptor related protein complex 3 subunit beta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb964 (9 images)
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 |
|---|---|---|---|
| Hermansky-Pudlak syndrome 2 | Alliance | Hermansky-Pudlak syndrome 2 | 608233 |
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 |
| Domain | IPR029390 | AP-3 complex subunit beta, C-terminal domain |
| Family | IPR026739 | AP complex subunit beta |
| Family | IPR026740 | AP-3 complex subunit beta |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
Domain Details Per Protein
| Protein | Length | AP-3 complex subunit beta | AP-3 complex subunit beta, C-terminal domain | AP complex subunit beta | Armadillo-like helical | Armadillo-type fold | Beta-adaptin appendage, C-terminal subdomain | Clathrin/coatomer adaptor, adaptin-like, N-terminal |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0G2KCY3
|
676 | |||||||
|
UniProtKB:A0A8M9PQW2
|
1111 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available