AP3B1
Identifiers
Aliases	AP3B1, ADTB3, ADTB3A, HPS, HPS2, PE, adaptor related protein complex 3 beta 1 subunit, adaptor related protein complex 3 subunit beta 1
External IDs	OMIM: 603401 MGI: 1333879 HomoloGene: 68125 GeneCards: AP3B1
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q14.1 Start 78,000,522 bp[1] End 78,294,762 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 C3|13 49.22 cM Start 94,495,468 bp[2] End 94,702,825 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon islet of Langerhans anterior pituitary monocyte rectum stromal cell of endometrium smooth muscle tissue minor salivary gland left lobe of thyroid gland internal globus pallidus Top expressed in seminiferous tubule secondary oocyte entorhinal cortex pyloric antrum spermatid epithelium of stomach large intestine colon left colon spermatocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein phosphatase binding GTP-dependent protein binding 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 synapse postsynapse 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 anterograde axonal transport anterograde synaptic vesicle transport transport synaptic vesicle budding from endosome Sources:Amigo / QuickGO
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 Location (UCSC) Chr 5: 78 – 78.29 Mb Chr 13: 94.5 – 94.7 Mb PubMed search [3] [4]
Wikidata
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AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.^[5][6][7]

Function

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.^[7]

Interactions

AP3B1 has been shown to interact with AP3S2.^[5]