AP3M1

From Wikipedia, the free encyclopedia


Adaptor-related protein complex 3, mu 1 subunit
Identifiers
Symbol(s) AP3M1; MGC22164
External IDs OMIM: 610366 MGI: 1929212 HomoloGene: 22693
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 26985 55946
Ensembl ENSG00000185009 ENSMUSG00000021824
Uniprot Q9Y2T2 Q921U0
Refseq NM_012095 (mRNA)
NP_036227 (protein)		 NM_018829 (mRNA)
NP_061299 (protein)
Location Chr 10: 75.55 - 75.58 Mb Chr 14: 19.82 - 19.84 Mb
Pubmed search [1] [2]

Adaptor-related protein complex 3, mu 1 subunit, also known as AP3M1, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit.

[edit] Further reading

  • Odorizzi G, Cowles CR, Emr SD (1998). "The AP-3 complex: a coat of many colours.". Trends Cell Biol. 8 (7): 282–8. PMID 9714600. 
  • Geyer M, Fackler OT, Peterlin BM (2001). "Structure--function relationships in HIV-1 Nef.". EMBO Rep. 2 (7): 580–5. doi:10.1093/embo-reports/kve141. PMID 11463741. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548. 
  • Höning S, Sandoval IV, von Figura K (1998). "A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.". EMBO J. 17 (5): 1304–14. doi:10.1093/emboj/17.5.1304. PMID 9482728. 
  • Stephens DJ, Banting G (1998). "Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120.". Biochem. J. 335 ( Pt 3): 567–72. PMID 9794796. 
  • Dell'Angelica EC, Shotelersuk V, Aguilar RC, et al. (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. PMID 10024875. 
  • Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. PMID 10737800. 
  • Craig HM, Reddy TR, Riggs NL, et al. (2000). "Interactions of HIV-1 nef with the mu subunits of adaptor protein complexes 1, 2, and 3: role of the dileucine-based sorting motif.". Virology 271 (1): 9–17. doi:10.1006/viro.2000.0277. PMID 10814565. 
  • Drake MT, Zhu Y, Kornfeld S (2001). "The assembly of AP-3 adaptor complex-containing clathrin-coated vesicles on synthetic liposomes.". Mol. Biol. Cell 11 (11): 3723–36. PMID 11071902. 
  • Madrid R, Le Maout S, Barrault MB, et al. (2002). "Polarized trafficking and surface expression of the AQP4 water channel are coordinated by serial and regulated interactions with different clathrin-adaptor complexes.". EMBO J. 20 (24): 7008–21. doi:10.1093/emboj/20.24.7008. PMID 11742978. 
  • Jia L, Young MF, Powell J, et al. (2002). "Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis.". Genomics 79 (1): 7–17. doi:10.1006/geno.2001.6683. PMID 11827452. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMID 15342556. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Coleman SH, Van Damme N, Day JR, et al. (2005). "Leucine-specific, functional interactions between human immunodeficiency virus type 1 Nef and adaptor protein complexes.". J. Virol. 79 (4): 2066–78. doi:10.1128/JVI.79.4.2066-2078.2005. PMID 15681409. 
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