AP3M1

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Description

Adaptor related protein complex 3 subunit mu 1

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

10 (74120255 - 74150842)

Ensembl ID

ENSG00000185009  (ver. 103.38)

Orthologs

Mouse Ap3m1: ENSMUSG00000021824

UniProt

Q9Y2T2

neXtProt

NX_Q9Y2T2

Human splice variants
Mouse splice variants

Protein structure