AP3D1

Name

adaptor related protein complex 3 subunit delta 1

Type

protein-coding

Position

2,100,982–2,164,468 (−)

Aliases

ADTD, HPS10, hBLVR

Ensembl

ENSG00000065000

RefSeq RNA

NM_001077523.1, NM_001261826.3, NM_001374799.1, NM_003938.8, XM_017027422.2

RefSeq protein

NP_001248755.1, NP_001361728.1, NP_003929.4, XP_016882911.1, XP_047295553.1

The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017].

via MyGene.info

Gene · Ensembl

adaptor related protein complex 3 subunit delta 1

Symbol

AP3D1

Biotype

Protein coding

Organism

Homo sapiens

Location

19:2,100,982-2,164,468

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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