AP3M1

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Adaptor-related protein complex 3, mu 1 subunit
Identifiers
Symbols AP3M1 ; MGC22164
External IDs OMIM610366 MGI1929212 HomoloGene22693 GeneCards: AP3M1 Gene
RNA expression pattern
PBB GE AP3M1 gnf1h00112 at tn.png
PBB GE AP3M1 gnf1h00114 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 26985 55946
Ensembl ENSG00000185009 ENSMUSG00000021824
UniProt Q9Y2T2 Q9JKC8
RefSeq (mRNA) NM_012095 NM_018829
RefSeq (protein) NP_036227 NP_061299
Location (UCSC) Chr 10:
75.88 – 75.91 Mb
Chr 14:
21.03 – 21.05 Mb
PubMed search [1] [2]

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.[1][2]

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.[2]

References[edit]

  1. ^ Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS (Mar 1999). "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor". Mol Cell 3 (1): 11–21. doi:10.1016/S1097-2765(00)80170-7. PMID 10024875. 
  2. ^ a b "Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit". 

Further reading[edit]