LOCUS       NM_012095               4889 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens adaptor related protein complex 3 subunit mu 1
            (AP3M1), transcript variant 2, mRNA.
ACCESSION   NM_012095
VERSION     NM_012095.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4889)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 4889)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 4889)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 4889)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   5  (bases 1 to 4889)
  AUTHORS   Kimpler,L.A., Glosson,N.L., Downs,D., Gonyo,P., May,N.A. and
            Hudson,A.W.
  TITLE     Adaptor protein complexes AP-1 and AP-3 are required by the HHV-7
            Immunoevasin U21 for rerouting of class I MHC molecules to the
            lysosomal compartment
  JOURNAL   PLoS One 9 (6), e99139 (2014)
   PUBMED   24901711
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4889)
  AUTHORS   Dell'Angelica,E.C., Shotelersuk,V., Aguilar,R.C., Gahl,W.A. and
            Bonifacino,J.S.
  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 3 (1), 11-21 (1999)
   PUBMED   10024875
REFERENCE   7  (bases 1 to 4889)
  AUTHORS   Honing,S., Sandoval,I.V. and 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 17 (5), 1304-1314 (1998)
   PUBMED   9482728
REFERENCE   8  (bases 1 to 4889)
  AUTHORS   Odorizzi,G., Cowles,C.R. and Emr,S.D.
  TITLE     The AP-3 complex: a coat of many colours
  JOURNAL   Trends Cell Biol 8 (7), 282-288 (1998)
   PUBMED   9714600
  REMARK    Review article
REFERENCE   9  (bases 1 to 4889)
  AUTHORS   Dell'Angelica,E.C., Klumperman,J., Stoorvogel,W. and
            Bonifacino,J.S.
  TITLE     Association of the AP-3 adaptor complex with clathrin
  JOURNAL   Science 280 (5362), 431-434 (1998)
   PUBMED   9545220
REFERENCE   10 (bases 1 to 4889)
  AUTHORS   Simpson,F., Peden,A.A., Christopoulou,L. and Robinson,M.S.
  TITLE     Characterization of the adaptor-related protein complex, AP-3
  JOURNAL   J Cell Biol 137 (4), 835-845 (1997)
   PUBMED   9151686
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC418192.1, AK026983.1,
            BC026232.1, AL731576.9 and BU679701.1.
            
            On Jun 2, 2019 this sequence version replaced NM_012095.5.
            
            Summary: 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 it may directly function 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. Alternative splicing of this
            gene results in multiple transcript variants. [provided by RefSeq,
            Feb 2016].
            
            Transcript Variant: This variant (2) lacks an alternate exon in the
            5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 all encode
            isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.80730.1,
                                           SRR1660807.46697.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267780 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355264.9/ ENSP00000347408.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 DC418192.1         258-265
            9-555               AK026983.1         1-547
            556-1442            BC026232.1         698-1584
            1443-4478           AL731576.9         43468-46503         c
            4479-4887           BU679701.1         18-426              c
            4888-4889           AL731576.9         43057-43058         c
FEATURES             Location/Qualifiers
     source          1..4889
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.2"
     gene            1..4889
                     /gene="AP3M1"
                     /note="adaptor related protein complex 3 subunit mu 1"
                     /db_xref="GeneID:26985"
                     /db_xref="HGNC:HGNC:569"
                     /db_xref="MIM:610366"
     exon            1..74
                     /gene="AP3M1"
                     /inference="alignment:Splign:2.1.0"
     exon            75..350
                     /gene="AP3M1"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1334
                     /gene="AP3M1"
                     /note="isoform a is encoded by transcript variant 2;
                     mu-adaptin 3A; AP-3 adapter complex mu3A subunit; clathrin
                     adaptor complex AP3, mu-3A subunit; AP-3 complex subunit
                     mu-1; mu3A-adaptin; adapter-related protein complex 3 mu-1
                     subunit; adaptor related protein complex 3 mu 1 subunit"
                     /codon_start=1
                     /product="AP-3 complex subunit mu-1 isoform a"
                     /protein_id="NP_036227.1"
                     /db_xref="CCDS:CCDS7342.1"
                     /db_xref="GeneID:26985"
                     /db_xref="HGNC:HGNC:569"
                     /db_xref="MIM:610366"
                     /translation="MIHSLFLINCSGDIFLEKHWKSVVSQSVCDYFFEAQEKAADVEN
                     VPPVISTPHHYLISIYRDKLFFVSVIQTEVPPLFVIEFLHRVADTFQDYFGECSEAAI
                     KDNVVIVYELLEEMLDNGFPLATESNILKELIKPPTILRSVVNSITGSSNVGDTLPTG
                     QLSNIPWRRAGVKYTNNEAYFDVVEEIDAIIDKSGSTVFAEIQGVIDACIKLSGMPDL
                     SLSFMNPRLLDDVSFHPCIRFKRWESERVLSFIPPDGNFRLISYRVSSQNLVAIPVYV
                     KHSISFKENSSCGRFDITIGPKQNMGKTIEGITVTVHMPKVVLNMNLTPTQGSYTFDP
                     VTKVLTWDVGKITPQKLPSLKGLVNLQSGAPKPEENPSLNIQFKIQQLAISGLKVNRL
                     DMYGEKYKPFKGVKYVTKAGKFQVRT"
     exon            351..522
                     /gene="AP3M1"
                     /inference="alignment:Splign:2.1.0"
     exon            523..660
                     /gene="AP3M1"
                     /inference="alignment:Splign:2.1.0"
     exon            661..746
                     /gene="AP3M1"
                     /inference="alignment:Splign:2.1.0"
     exon            747..880
                     /gene="AP3M1"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1088
                     /gene="AP3M1"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1233
                     /gene="AP3M1"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..4889
                     /gene="AP3M1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3360..3365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP3M1"
                     /note="hexamer: AATAAA"
     polyA_site      3378
                     /gene="AP3M1"
                     /note="major polyA site"
     regulatory      4867..4872
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP3M1"
                     /note="hexamer: AATAAA"
     polyA_site      4889
                     /gene="AP3M1"
ORIGIN      
        1 gcggccttct cggcttctcc agcttcggta ggagaggatc cggcgccgaa tcactgactg
       61 gcacaggtgt tgggaaaatg atccacagtc tatttctcat aaactgttcc ggtgacatat
      121 ttctagagaa gcactggaag agcgttgtga gccagtctgt ctgtgattat ttctttgaag
      181 ctcaagagaa agctgctgat gttgaaaatg taccacctgt catttcaaca cctcaccact
      241 acctcatcag tatctaccgg gataagctct tctttgtatc tgtcatacag accgaagtgc
      301 cacctctctt tgtaattgag ttcctacatc gagttgctga cacttttcag gactactttg
      361 gtgagtgttc agaggctgca attaaggata atgtggtcat agtatatgaa ctcttagaag
      421 aaatgttaga caatggattt ccactggcta ccgaatctaa cattttgaaa gaattgatta
      481 aaccaccaac aattctacgc tctgttgtca actctattac aggcagtagt aatgttgggg
      541 acacactccc caccgggcag ctgtccaaca taccatggcg tcgggcaggg gtaaagtaca
      601 caaacaatga agcctatttt gatgttgttg aagaaataga cgcaattata gataaatcag
      661 gatctacagt ctttgcagaa attcaggggg tcattgatgc ttgcattaaa ctatctggaa
      721 tgcctgatct ctccctttct ttcatgaacc ctaggcttct ggatgatgtc agctttcacc
      781 cctgcatccg gttcaagcgt tgggaatctg aaagagtttt gtcatttatt cctccagatg
      841 gaaatttccg actcatatca taccgtgtca gctcacaaaa tctagtggca ataccagtgt
      901 atgtgaaaca tagtatcagc tttaaggaga acagttcttg cggcagattt gatataacaa
      961 ttggaccaaa gcagaatatg gggaaaacta ttgaaggaat tacagtgaca gttcacatgc
     1021 caaaagttgt gctgaacatg aacctgacac ccacacaagg cagctataca tttgatccag
     1081 tcaccaaggt actaacatgg gatgtgggaa aaattactcc acaaaagctc ccaagtctta
     1141 aaggactggt aaatttacag tctggagccc ccaaaccaga agagaatccg agcctcaaca
     1201 tacagtttaa gatccagcag cttgctattt caggcttaaa agtaaaccgt ttggacatgt
     1261 atggggagaa atataagcca tttaaaggag tcaaatacgt cacgaaagct ggaaagttcc
     1321 aagtgaggac atgagaagag gccaaaattc ctcaggacca gtttgttttc caagtgtcat
     1381 tacgatgtat cactattagg taccaagtga gtgggaatac atattctagt taaagcattt
     1441 gtgtctagct acacaccgct aacaaagtta cttagttatc aatgtaggat tcttaaggag
     1501 ctttaagcta aggaaacctt ttagtgactt agcttatttt gtatcttttc acttaggaag
     1561 attttggagg tgattttttt ccataggagg ataccatctg gcggctgcac attgtaacag
     1621 taaaggcaga aagctgtagt gataacctct ctcctaaaag agttaactgg tctcatccag
     1681 cagaagctat cttaaatctg tgatgtgtca ggtgcagcca aatatcacac cttctgatct
     1741 tagccatccc aaaccagtat ctgtcccgag aggaaattcc ccccaccccc agaagtttac
     1801 agaaaactgc ctcttcaagt gtttgcctta ttcagctttt cacttgtgcc attaagcaag
     1861 cactgtagca aaagccactt ccacatggcc ctggcaggga gcactgctgc tccatgctcc
     1921 attctcactg tacttggtat tgtatttttt ataaataaga tttttatgta aagcttagaa
     1981 tttgatttac agggaccttg ctgcagtaaa taccatctca attttgtgcc actggttcag
     2041 ctgttagcac agtaaaaaaa tcatttgtat caaaggggca aatgctttat taaggtagta
     2101 aaagggaaca ttacttctgc ttttaggaag ttactgcaag cacaagcatt tgtgctttta
     2161 agcaaattaa agtagtaaaa gaaaaactta agtgaaacct ttgccatctt catgttttat
     2221 aatataaagc ttacccaaca ccagttaagc catggttaac ctaaatgcct catgccccag
     2281 ttcagcaaaa ggaggaaaat gtgcctgcct cacagtcatc agtcttttta aatctttttt
     2341 gttgttgttc ttaagggttt gaatttgtct gcattccttg tctttagggg aaattccctt
     2401 ttcatattgt gtgcttccca aagctatagt catagatttc ttccagaaac tattgtcata
     2461 attgtcactg gagtgcttaa atatacgtac tatactgaca aaatacatgg aagtgagtta
     2521 taatgaggca gaaacaaaat cctcggtaac attgatgata ctctaccgat caccgtggtt
     2581 ttggaaagtc agtcaacagt tgtattattg cactcaattt cattgtgaca ttttatttaa
     2641 cttcttcatc ttggtggtcc ttgcccagtt attttgcctc attagacatc aagaaatgga
     2701 gaaagactga aagttaatat cttaagtgct tgttcttcat gtttccttct tgttatttat
     2761 gctattctct ttgtggctcc attcttcttt caatcttctc agcttataac cgtctttccc
     2821 ttatgctaag gatagccctt acactcatcc catctatgct gtcaagggct gctggttggt
     2881 gctggtacaa ggagcccact cagcagtttt cttacctttg cctgccctgc ctttcatgga
     2941 ataagaaagg caacgttttg cagcttccaa atttctgaag aaactaatct cagattggca
     3001 gttaaagtca aaatgttgcc aaatatttat tccttttgcc taagtttggc tacccggttc
     3061 aattgctttt tatttttaat gtcttgactc ttcagagttc gtacctcaaa agaacaatga
     3121 gaacatttgc tttgctttct gctgaatccc taatctcaac aatctatacc tggactgtcc
     3181 agttctcctc ctgtgctatc ttctcttcta tccaagtaga atgtacgcca ggagctcctt
     3241 ccctctagca atttctacta aaatgtccaa gtagaatgtt tccttttaca atcaaattac
     3301 tgtatttatt aatttgctag aatccagtaa atcattttgg tagctctggc tgtgctatca
     3361 ataaaaagat gaaagcaaca agttgatttt ttttaggtct actattgatt gaacattctc
     3421 caatgggcaa ggctcattgt caaagcaggg tgaacatgat cagattttct tctgcatcat
     3481 cacacaagct gcgagtgttg ctgcaaagca cttctcagta ctccttccct aacctcagta
     3541 tgttaatagc cattcatact tggcttaagc atcaccattc tggccacagt ctgagagatt
     3601 agtgatcaaa gctcccttcc ctatcactac caccacctac tgataacaaa gatttctgaa
     3661 tacttagtag tagtaaaata tttttcaagc acagagttac agctaatcct ggatcacttg
     3721 ttctaaattc ataagggagt atatcaagag caaatgaagt aaatgattct ttcctgcgtg
     3781 tgggagtcac catcatttta ttcaaaggga gttcctgtga taggttcatt ccttaagtgg
     3841 tgctacagaa ggaccctagg aaaatgctga tcttgtcctg agaggcaact gatttgagaa
     3901 aatgattata ctacagcagg aaggcagcac cagtgaacat atggtaaatg gcaaaaacaa
     3961 gacagtttta gaaactgcta attcagtagc agccttggcc tttcccttaa ctcaagcagg
     4021 ctggaatctg tctttatagt cggcaacttt ccaagataaa gcagtgataa tagcagttgg
     4081 caacactaaa tatcaatatc atcacccttt aatgacatgt tacccctttc agatctagaa
     4141 aatcagggaa aaagtgatgt cccaactcta ctctaaaaac ctgctcctac tattttagtc
     4201 agtgtttctt taaggaagaa gaggactatg tccccaaaag ctaactctgt tttatagccc
     4261 tggtggatcc ctgaaaaccc tatttattct atactgggct ttggaatatg aaaaatggac
     4321 ctgtgtggcc gggcgtggtg gatcacacct gtaatcccag cactttggga ggtcaaggtg
     4381 ggcggatcac ttgaggtcag gagttcgaga ccagcctggc caacatggtg aaactccatc
     4441 tctactaaaa atacaaaaat tagccaggca tggtggcgca cacctgtaat cccagctaca
     4501 tgggaggctg aggcaggaga attgcttgaa cccgggaggc agaggttgca gtgagctgag
     4561 attgcaccac tgcactgcag cctgggcaac agagcaagtc tctgtcttgc agcaggggga
     4621 aggacctgtg gtactcctac aaacttaaca actttagctt ttcggggaac agtggtggtc
     4681 tccacagata gctagaatct tctaagatga aaataaactg tttcatccag ctgctttctg
     4741 cctgttaacc tttgccactt ccattccttc aagtgtgtaa tccccagggt tgtcttgtat
     4801 tacacacatc cttgttaagt aaatatacca ctgttgattt cttcttccag tgcaacattt
     4861 ggattaaata aaaatcttta gtttccaga
//
