BC038444
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
116,195 Da
NCBI Official Full Name
Homo sapiens adaptor-related protein complex 3, beta 1 subunit, mRNA
NCBI Official Synonym Full Names
adaptor related protein complex 3 beta 1 subunit
NCBI Protein Information
AP-3 complex subunit beta-1
UniProt Protein Name
AP-3 complex subunit beta-1
UniProt Synonym Protein Names
Adaptor protein complex AP-3 subunit beta-1; Adaptor-related protein complex 3 subunit beta-1; Beta-3A-adaptin; Clathrin assembly protein complex 3 beta-1 large chain
UniProt Synonym Gene Names
UniProt Entry Name
AP3B1_HUMAN
NCBI Summary for AP3B1
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
UniProt Comments for AP3B1
AP3B1: a subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. Mutations in AP3B1 cause defects of various cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes, and are the cause of Hermansky-Pudlak syndrome 2. Two alternatively spliced isoforms have been described.
Protein type: Adaptor/scaffold; Vesicle
Chromosomal Location of Human Ortholog: 5q14.1
Cellular Component: lysosomal membrane; membrane
Molecular Function: GTP-dependent protein binding; protein phosphatase binding
Biological Process: anterograde axon cargo transport; anterograde synaptic vesicle transport; intracellular protein transport; melanosome organization and biogenesis
Disease: Hermansky-pudlak Syndrome 2
Research Articles on AP3B1
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Pathways associated with AP3B1 cdna clone
Diseases associated with AP3B1 cdna clone
Organs/Tissues associated with AP3B1 cdna clone
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