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{{Infobox_gene}}
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'''AP-3 complex subunit mu-1''' is a [[protein]] that in humans is encoded by the ''AP3M1'' [[gene]].<ref name="pmid10024875">{{cite journal |vauthors=Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS | title = Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor | journal = Mol Cell | volume = 3 | issue = 1 | pages = 11–21 |date=Mar 1999 | pmid = 10024875 | pmc =  | doi =10.1016/S1097-2765(00)80170-7 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26985| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Adaptor-related protein complex 3, mu 1 subunit
| HGNCid = 569
| Symbol = AP3M1
| AltSymbols =; MGC22164
| OMIM = 610366
| ECnumber =
| Homologene = 22693
| MGIid = 1929212
  | GeneAtlas_image1 = PBB_GE_AP3M1_gnf1h00112_at_tn.png
| GeneAtlas_image2 = PBB_GE_AP3M1_gnf1h00114_s_at_tn.png
  | Function =
| Component = {{GNF_GO|id=GO:0005764 |text = lysosome}} {{GNF_GO|id=GO:0030125 |text = clathrin vesicle coat}} {{GNF_GO|id=GO:0030662 |text = coated vesicle membrane}}
| Process = {{GNF_GO|id=GO:0006622 |text = protein targeting to lysosome}} {{GNF_GO|id=GO:0006886 |text = intracellular protein transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 26985
    | Hs_Ensembl = ENSG00000185009
    | Hs_RefseqProtein = NP_036227
    | Hs_RefseqmRNA = NM_012095
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 75551530
    | Hs_GenLoc_end = 75580827
    | Hs_Uniprot = Q9Y2T2
    | Mm_EntrezGene = 55946
    | Mm_Ensembl = ENSMUSG00000021824
    | Mm_RefseqmRNA = NM_018829
    | Mm_RefseqProtein = NP_061299
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 14
    | Mm_GenLoc_start = 19823362
    | Mm_GenLoc_end = 19840737
    | Mm_Uniprot = Q921U0
  }}
}}
'''Adaptor-related protein complex 3, mu 1 subunit''', also known as '''AP3M1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26985| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26985| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* {{UCSC gene info|AP3M1}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Odorizzi G, Cowles CR, Emr SD |title=The AP-3 complex: a coat of many colours. |journal=Trends Cell Biol. |volume=8 |issue= 7 |pages= 282-8 |year= 1998 |pmid= 9714600 |doi=  }}
*{{cite journal  |vauthors=Odorizzi G, Cowles CR, Emr SD |title=The AP-3 complex: a coat of many colours. |journal=Trends Cell Biol. |volume=8 |issue= 7 |pages= 282–8 |year= 1998 |pmid= 9714600 |doi=10.1016/S0962-8924(98)01295-1 }}
*{{cite journal  | author=Geyer M, Fackler OT, Peterlin BM |title=Structure--function relationships in HIV-1 Nef. |journal=EMBO Rep. |volume=2 |issue= 7 |pages= 580-5 |year= 2001 |pmid= 11463741 |doi= 10.1093/embo-reports/kve141 }}
*{{cite journal  |vauthors=Geyer M, Fackler OT, Peterlin BM |title=Structure--function relationships in HIV-1 Nef. |journal=EMBO Rep. |volume=2 |issue= 7 |pages= 580–5 |year= 2001 |pmid= 11463741 |doi= 10.1093/embo-reports/kve141 | pmc=1083955 }}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
*{{cite journal  |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
*{{cite journal  | author=Höning S, Sandoval IV, von Figura K |title=A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. |journal=EMBO J. |volume=17 |issue= 5 |pages= 1304-14 |year= 1998 |pmid= 9482728 |doi= 10.1093/emboj/17.5.1304 }}
*{{cite journal  |vauthors=Höning S, Sandoval IV, von Figura K |title=A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. |journal=EMBO J. |volume=17 |issue= 5 |pages= 1304–14 |year= 1998 |pmid= 9482728 |doi= 10.1093/emboj/17.5.1304 | pmc=1170479 }}
*{{cite journal  | author=Stephens DJ, Banting G |title=Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120. |journal=Biochem. J. |volume=335 ( Pt 3) |issue=  |pages= 567-72 |year= 1998 |pmid= 9794796 |doi=  }}
*{{cite journal  |vauthors=Stephens DJ, Banting G |title=Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120. | series=335 |journal=Biochem. J. |volume=( Pt 3) |issue=  |pages= 567–72 |year= 1998 |pmid= 9794796 |doi=  10.1042/bj3350567| pmc=1219817 }}
*{{cite journal  | author=Dell'Angelica EC, Shotelersuk V, Aguilar RC, ''et al.'' |title=Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. |journal=Mol. Cell |volume=3 |issue= 1 |pages= 11-21 |year= 1999 |pmid= 10024875 |doi=  }}
*{{cite journal  |vauthors=Dias Neto E, Correa RG, Verjovski-Almeida S |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491–6 |year= 2000 |pmid= 10737800 |doi=10.1073/pnas.97.7.3491  | pmc=16267 |display-authors=etal}}
*{{cite journal  | author=Dias Neto E, Correa RG, Verjovski-Almeida S, ''et al.'' |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491-6 |year= 2000 |pmid= 10737800 |doi=  }}
*{{cite journal  |vauthors=Craig HM, Reddy TR, Riggs NL |title=Interactions of HIV-1 nef with the mu subunits of adaptor protein complexes 1, 2, and 3: role of the dileucine-based sorting motif. |journal=Virology |volume=271 |issue= 1 |pages= 9–17 |year= 2000 |pmid= 10814565 |doi= 10.1006/viro.2000.0277 |display-authors=etal}}
*{{cite journal  | author=Craig HM, Reddy TR, Riggs NL, ''et al.'' |title=Interactions of HIV-1 nef with the mu subunits of adaptor protein complexes 1, 2, and 3: role of the dileucine-based sorting motif. |journal=Virology |volume=271 |issue= 1 |pages= 9-17 |year= 2000 |pmid= 10814565 |doi= 10.1006/viro.2000.0277 }}
*{{cite journal  |vauthors=Drake MT, Zhu Y, Kornfeld S |title=The assembly of AP-3 adaptor complex-containing clathrin-coated vesicles on synthetic liposomes. |journal=Mol. Biol. Cell |volume=11 |issue= 11 |pages= 3723–36 |year= 2001 |pmid= 11071902 |doi= 10.1091/mbc.11.11.3723| pmc=15032 }}
*{{cite journal  | author=Drake MT, Zhu Y, Kornfeld S |title=The assembly of AP-3 adaptor complex-containing clathrin-coated vesicles on synthetic liposomes. |journal=Mol. Biol. Cell |volume=11 |issue= 11 |pages= 3723-36 |year= 2001 |pmid= 11071902 |doi=  }}
*{{cite journal  |vauthors=Madrid R, Le Maout S, Barrault MB |title=Polarized trafficking and surface expression of the AQP4 water channel are coordinated by serial and regulated interactions with different clathrin-adaptor complexes. |journal=EMBO J. |volume=20 |issue= 24 |pages= 7008–21 |year= 2002 |pmid= 11742978 |doi= 10.1093/emboj/20.24.7008 | pmc=125333 |display-authors=etal}}
*{{cite journal  | author=Madrid R, Le Maout S, Barrault MB, ''et al.'' |title=Polarized trafficking and surface expression of the AQP4 water channel are coordinated by serial and regulated interactions with different clathrin-adaptor complexes. |journal=EMBO J. |volume=20 |issue= 24 |pages= 7008-21 |year= 2002 |pmid= 11742978 |doi= 10.1093/emboj/20.24.7008 }}
*{{cite journal  |vauthors=Jia L, Young MF, Powell J |title=Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. |journal=Genomics |volume=79 |issue= 1 |pages= 7–17 |year= 2002 |pmid= 11827452 |doi= 10.1006/geno.2001.6683 |display-authors=etal}}
*{{cite journal  | author=Jia L, Young MF, Powell J, ''et al.'' |title=Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. |journal=Genomics |volume=79 |issue= 1 |pages= 7-17 |year= 2002 |pmid= 11827452 |doi= 10.1006/geno.2001.6683 }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  |vauthors=Suzuki Y, Yamashita R, Shirota M |title=Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711–8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604 | pmc=515316 |display-authors=etal}}
*{{cite journal  | author=Suzuki Y, Yamashita R, Shirota M, ''et al.'' |title=Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711-8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604 }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  |vauthors=Coleman SH, Van Damme N, Day JR |title=Leucine-specific, functional interactions between human immunodeficiency virus type 1 Nef and adaptor protein complexes. |journal=J. Virol. |volume=79 |issue= 4 |pages= 2066–78 |year= 2005 |pmid= 15681409 |doi= 10.1128/JVI.79.4.2066-2078.2005 | pmc=546596 |display-authors=etal}}
*{{cite journal  | author=Coleman SH, Van Damme N, Day JR, ''et al.'' |title=Leucine-specific, functional interactions between human immunodeficiency virus type 1 Nef and adaptor protein complexes. |journal=J. Virol. |volume=79 |issue= 4 |pages= 2066-78 |year= 2005 |pmid= 15681409 |doi= 10.1128/JVI.79.4.2066-2078.2005 }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 18:06, 29 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  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. ↑ 2.0 2.1 "Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit".

External links

Further reading



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