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 act upstream of or within intracellular protein transport and vesicle-mediated transport. Predicted to be located in membrane. Predicted to be part of AP-3 adaptor complex and clathrin adaptor complex. Is expressed in several structures, including axial vasculature; intermediate cell mass of mesoderm; optic vesicle; ventral mesoderm; and yolk syncytial layer. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 2; interstitial lung disease; neutropenia; and pulmonary fibrosis. Orthologous to human AP3B1 (adaptor related protein complex 3 subunit beta 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ap3b1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hermansky-Pudlak syndrome 2 Alliance Hermansky-Pudlak syndrome 2 608233
Associated With ap3b1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:A9JRG4 948
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations