AP3M1

Also known as adaptor related protein complex 3 mu 1 subunit, adaptor related protein complex 3 subunit mu 1

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.

Gene data

AP3M1

Name: adaptor related protein complex 3 subunit mu 1
Type: protein-coding

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].

via MyGene.info

Gene · Ensembl

adaptor related protein complex 3 subunit mu 1

Symbol: AP3M1
Biotype: Protein coding
Organism: Homo sapiens
Location: 10:74,120,118-74,151,055
Strand: Reverse (−)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 22693
exact match: identifiers.org/ncbigene/26985
genomic end: 74150842
genomic start: 75881524
cytogenetic location: 10q22.2

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AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.

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 may be directly involved 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. Alternatively spliced transcript variants encoding the same protein have been observed.