AP3B1 Antibody – Rabbit Polyclonal

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]

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: Golgi apparatus; membrane; lysosomal membrane; clathrin coated vesicle membrane

Molecular Function: GTP-dependent protein binding; protein phosphatase binding

Biological Process: intracellular protein transport; protein targeting to lysosome; melanosome organization and biogenesis; anterograde synaptic vesicle transport; antigen processing and presentation, exogenous lipid antigen via MHC class Ib; positive regulation of NK T cell differentiation; blood coagulation; anterograde axon cargo transport

Disease: Hermansky-pudlak Syndrome 2