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GENE AND PROTEIN SUMMARY

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Gene name

AP3M1

Description

adaptor-related protein complex 3, mu 1 subunit

Protein class

Mapped to UniProt SWISS-PROT

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

2 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin High

-

-

A-549 Lung High

-

-

CACO-2 Colon High

-

-

HEK 293 Embryonal kidney High

-

-

HeLa Cervix High

-

-

Hep-G2 Liver High

-

-

MCF-7 Pleural effusion Medium

-

-

PC-3 Bone marrow High

-

-

RT-4 Urinary bladder High

-

-

U-2 OS Bone High

-

-

U-251 MG Brain High

-

-

ANTIBODY SUMMARY

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Pending antibodies