AP3M1

GENE INFORMATION

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Gene name

AP3M1

Synonyms

Description

adaptor-related protein complex 3, mu 1 subunit (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

10 (Chromosome progress)

Cytoband

q22.2

Chromosome location (bp)

75881524 - 75910821

Ensembl

ENSG00000185009 (version 73.37)

Entrez gene

26985

UniProt

Q9Y2T2 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y2T2

Antibodypedia

AP3M1 antibodies
 

PROTEIN VIEW

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AP3M1-001
 
AP3M1-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AP3M1-001 ENSP00000347408
ENST00000355264
Q9Y2T2
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Show » 418 46.9 No 0
AP3M1-002 ENSP00000361831
ENST00000372745
Q9Y2T2
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Show » 418 46.9 No 0