AP3M1

AP3M1
Identifiers
Aliases	AP3M1 , adaptor related protein complex 3 mu 1 subunit, adaptor related protein complex 3 subunit mu 1
External IDs	OMIM: 610366 MGI: 1929212 HomoloGene: 22693 GeneCards: AP3M1
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q22.2 Start 74,120,255 bp [1] End 74,150,842 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14 A3|14 11.58 cM Start 21,081,510 bp [2] End 21,102,576 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell ganglionic eminence islet of Langerhans smooth muscle tissue rectum tibialis anterior muscle monocyte appendix placenta endothelial cell Top expressed in secondary oocyte spermatocyte spermatid mirror yolk sac neural tube ganglionic eminence substantia nigra atrioventricular valve external carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component lysosomal membrane Golgi apparatus lysosome cytoplasmic vesicle membrane membrane cytoplasmic vesicle clathrin adaptor complex axon cytoplasm Biological process anterograde axonal transport protein transport anterograde synaptic vesicle transport protein targeting to lysosome intracellular protein transport vesicle-mediated transport transport viral process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26985 55946 Ensembl ENSG00000185009 ENSMUSG00000021824 UniProt Q9Y2T2 Q9JKC8 RefSeq (mRNA) NM_012095 NM_207012 NM_001320263 NM_001320264 NM_001320265 NM_018829 RefSeq (protein) NP_001307192 NP_001307193 NP_001307194 NP_036227 NP_996895 NP_061299 Location (UCSC) Chr 10: 74.12 – 74.15 Mb Chr 14: 21.08 – 21.1 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene. ^{[5] [6]}

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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000185009 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021824 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit".

External links

• Human AP3M1 genome location and AP3M1 gene details page in the UCSC Genome Browser .

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) (3): 567–72. doi:10.1042/bj3350567. 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. Bibcode:2000PNAS...97.3491D. 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. Bibcode:2002PNAS...9916899M. 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.