AP3B1

AP3B1
Identifiers
Aliases	AP3B1, ADTB3, ADTB3A, HPS, HPS2, PE, adaptor related protein complex 3 beta 1 subunit
External IDs	MGI: 1333879 HomoloGene: 68125 GeneCards: AP3B1
Gene ontology Molecular function • protein phosphatase binding • GTP-dependent protein binding Cellular component • clathrin-coated vesicle membrane • lysosomal membrane • membrane coat • cytoplasmic vesicle • AP-3 adaptor complex • Golgi apparatus • membrane • clathrin adaptor complex • axon cytoplasm Biological process • protein targeting to lysosome • protein transport • intracellular protein transport • antigen processing and presentation, exogenous lipid antigen via MHC class Ib • vesicle-mediated transport • melanosome organization • positive regulation of NK T cell differentiation • antigen processing and presentation • blood coagulation • transport • anterograde axonal transport • anterograde synaptic vesicle transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8546	11774
Ensembl	ENSG00000132842	ENSMUSG00000021686
UniProt	O00203	Q9Z1T1
RefSeq (mRNA)	NM_001271769 NM_003664	NM_009680
RefSeq (protein)	NP_001258698 NP_003655	NP_033810.2 NP_033810
Location (UCSC)	Chr 5: 78 – 78.29 Mb	Chr 13: 94.36 – 94.57 Mb
PubMed search

8546

11774

ENSG00000132842

ENSMUSG00000021686

O00203

Q9Z1T1

NM_001271769
NM_003664

NM_009680

NP_001258698
NP_003655

NP_033810.2
NP_033810

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 2.

AP3B1 has been shown to interact with AP3S2.

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Wikipedia