AP3M1
| Adaptor-related protein complex 3, mu 1 subunit | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | AP3M1 ; MGC22164 | ||||||||||||
| External IDs | OMIM: 610366 MGI: 1929212 HomoloGene: 22693 GeneCards: AP3M1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| 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: 74.12 – 74.15 Mb |
Chr 14: 21.03 – 21.05 Mb | |||||||||||
| PubMed search | |||||||||||||
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
- ↑ 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.
- 1 2 "Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit".
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. doi:10.1016/S0962-8924(98)01295-1. 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. PMC 1083955. PMID 11463741.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. 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. PMC 1170479. 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. PMC 1219817. PMID 9794796.
- 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. doi:10.1073/pnas.97.7.3491. PMC 16267. 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. doi:10.1091/mbc.11.11.3723. PMC 15032. 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. PMC 125333. 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. PMC 139241. 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. PMC 515316. 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. PMC 528928. 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. PMC 546596. PMID 15681409.
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