LOCUS       NM_006803               3494 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens adaptor related protein complex 3 subunit mu 2
            (AP3M2), transcript variant 2, mRNA.
ACCESSION   NM_006803
VERSION     NM_006803.4
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 3494)
  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   2  (bases 1 to 3494)
  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   3  (bases 1 to 3494)
  AUTHORS   Bultema,J.J. and Di Pietro,S.M.
  TITLE     Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous
            lysosome biogenesis machinery to synthesize specialized
            lysosome-related organelles
  JOURNAL   Small GTPases 4 (1), 16-21 (2013)
   PUBMED   23247405
  REMARK    Review article
REFERENCE   4  (bases 1 to 3494)
  AUTHORS   Hashimoto,R., Ohi,K., Okada,T., Yasuda,Y., Yamamori,H., Hori,H.,
            Hikita,T., Taya,S., Saitoh,O., Kosuga,A., Tatsumi,M., Kamijima,K.,
            Kaibuchi,K., Takeda,M. and Kunugi,H.
  TITLE     Association analysis between schizophrenia and the AP-3 complex
            genes
  JOURNAL   Neurosci Res 65 (1), 113-115 (2009)
   PUBMED   19481122
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3494)
  AUTHORS   Huang,M.C., Okada,M., Nakatsu,F., Oguni,H., Ito,M., Morita,K.,
            Nagafuji,H., Hirose,S., Sakaki,Y., Kaneko,S., Ohno,H. and Kojima,T.
  TITLE     Mutation screening of AP3M2 in Japanese epilepsy patients
  JOURNAL   Brain Dev 29 (8), 462-467 (2007)
   PUBMED   17293072
  REMARK    GeneRIF: some AP3M2 mutations still remain candidates for unmapped
            disorders including epilepsy, febrile seizure, and other neuronal
            developmental disorders associated with functional abnormalities of
            GABAergic transmission
            GeneRIF: Observational study of genotype prevalence. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3494)
  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   7  (bases 1 to 3494)
  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
REFERENCE   8  (bases 1 to 3494)
  AUTHORS   Koyama,K., Sudo,K. and Nakamura,Y.
  TITLE     Isolation of 115 human chromosome 8-specific expressed-sequence
            tags by exon amplification
  JOURNAL   Genomics 26 (2), 245-253 (1995)
   PUBMED   7601449
REFERENCE   9  (bases 1 to 3494)
  AUTHORS   Pevsner,J., Volknandt,W., Wong,B.R. and Scheller,R.H.
  TITLE     Two rat homologs of clathrin-associated adaptor proteins
  JOURNAL   Gene 146 (2), 279-283 (1994)
   PUBMED   8076832
REFERENCE   10 (bases 1 to 3494)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI461390.1, BC056398.1,
            AC103724.2 and AA854640.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006803.3.
            
            Summary: This gene encodes a subunit of the heterotetrameric
            adaptor-related protein comlex 3 (AP-3), which belongs to the
            adaptor complexes medium subunits family. The AP-3 complex plays a
            role in protein trafficking to lysosomes and specialized
            organelles. Multiple alternatively spliced variants, encoding the
            same protein, have been identified. [provided by RefSeq, Aug 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein.
            
            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 :: SRR1660809.250983.1,
                                           SRR1660803.23975.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396926.8/ ENSP00000380132.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                BI461390.1         125-146
            23-1779             BC056398.1         12-1768
            1780-3492           AC103724.2         7524-9236           c
            3493-3494           AA854640.1         14-15               c
FEATURES             Location/Qualifiers
     source          1..3494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..3494
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /note="adaptor related protein complex 3 subunit mu 2"
                     /db_xref="GeneID:10947"
                     /db_xref="HGNC:HGNC:570"
                     /db_xref="MIM:610469"
     exon            1..43
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /inference="alignment:Splign:2.1.0"
     exon            44..388
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..1372
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /note="clathrin-associated protein AP47 homolog 2;
                     clathrin coat assembly protein AP47 homolog 2; golgi
                     adaptor AP-1 47 kDA protein homolog 2; HA1 47kDA subunit
                     homolog 2; clathrin assembly protein assembly protein
                     complex 1 medium chain homolog 2; mu3B-adaptin; HA1 47 kDa
                     subunit homolog 2; adapter-related protein complex 3 mu-2
                     subunit; clathrin coat-associated protein AP47 homolog 2;
                     adapter-related protein complex 3 subunit mu-2; clathrin
                     assembly protein assembly protein complex 3 mu-2 medium
                     chain; adaptor related protein complex 3 mu 2 subunit;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="AP-3 complex subunit mu-2"
                     /protein_id="NP_006794.1"
                     /db_xref="CCDS:CCDS6125.1"
                     /db_xref="GeneID:10947"
                     /db_xref="HGNC:HGNC:570"
                     /db_xref="MIM:610469"
                     /translation="MIHSLFLINSSGDIFLEKHWKSVVSRSVCDYFFEAQERATEAEN
                     VPPVIPTPHHYLLSVYRHKIFFVAVIQTEVPPLFVIEFLHRVVDTFQDYFGVCSEPVI
                     KDNVVVVYEVLEEMLDNGFPLATESNILKELIKPPTILRTVVNTITGSTNVGDQLPTG
                     QLSVVPWRRTGVKYTNNEAYFDVIEEIDAIIDKSGSTITAEIQGVIDACVKLTGMPDL
                     TLSFMNPRLLDDVSFHPCVRFKRWESERILSFIPPDGNFRLLSYHVSAQNLVAIPVYV
                     KHNISFRDSSSLGRFEITVGPKQTMGKTIEGVTVTSQMPKGVLNMSLTPSQGTHTFDP
                     VTKMLSWDVGKINPQKLPSLKGTMSLQAGASKPDENPTINLQFKIQQLAISGLKVNRL
                     DMYGEKYKPFKGIKYMTKAGKFQVRT"
     exon            389..560
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /inference="alignment:Splign:2.1.0"
     exon            561..698
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /inference="alignment:Splign:2.1.0"
     exon            699..784
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /inference="alignment:Splign:2.1.0"
     exon            785..918
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1126
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1271
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..3494
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2639..2644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /note="hexamer: AATAAA"
     polyA_site      2660
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /note="major polyA site"
     regulatory      3472..3477
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /note="hexamer: AATAAA"
     polyA_site      3494
                     /gene="AP3M2"
                     /gene_synonym="AP47B; CLA20; P47B"
                     /note="major polyA site"
ORIGIN      
        1 gtccgcgcct aggagcagtg ggcgctgaga gcagcaaggc cagagttgaa aacttacaga
       61 gtcctgaggc tttcagactg aaaaaggctt tcttctgtca ctgacaatcg ccaccatgat
      121 ccatagtctt ttcttgatca actcctctgg agacattttc ctggagaaac attggaaaag
      181 tgtggtcagc cgttctgttt gtgattactt ttttgaggcg caagagagag ctactgaggc
      241 agaaaatgtg cctccggtta tccctacccc tcaccactat ctcttaagtg tttaccgcca
      301 caagatcttt tttgtggccg tgatccagac ggaggtcccc cctctgtttg tcattgagtt
      361 tcttcaccga gtggtggaca catttcagga ttattttgga gtctgttcag agccagtgat
      421 caaagacaat gtagttgtgg tttatgaggt attggaagag atgcttgaca atggttttcc
      481 attggctacc gagtcgaaca ttcttaaaga actcataaag cctcctacca tccttcgaac
      541 ggttgtcaac accatcacag gaagcacgaa tgtgggtgac cagcttccca ctgggcagct
      601 gtcagtggtg ccttggcgac ggactggggt gaaatatacc aacaatgagg cctattttga
      661 tgtgattgaa gagattgatg caattattga taaatcaggc tccacaatta ctgctgagat
      721 ccagggggtg attgatgcct gtgtcaagct gactggcatg ccagacctta cactttcctt
      781 catgaaccct aggttgttgg atgatgtcag cttccatcct tgtgttcgtt tcaaacgctg
      841 ggaatctgag cgcatcctct ccttcatccc tcctgatgga aacttccgcc tgctgtctta
      901 ccatgtcagt gcacagaatc tggttgcaat cccagtgtat gtcaaacata acatcagttt
      961 ccgggacagt agttcccttg gacgctttga aataacggtg ggacccaagc agacgatggg
     1021 gaagaccatt gagggagtga ctgtcaccag ccagatgccc aagggggtcc tgaacatgag
     1081 ccttactcca tcacagggga cacacacatt cgacccagtc acaaagatgc tgtcttggga
     1141 tgtaggaaaa ataaatccac aaaagctacc aagtttgaag gggaccatga gtcttcaggc
     1201 tggagcttcc aaaccagatg aaaaccccac aattaacctg cagtttaaga tccagcagct
     1261 ggccatttct ggactcaagg tgaatcgtct ggatatgtat ggagaaaagt acaaaccctt
     1321 taagggcata aaatacatga ccaaagctgg gaagttccaa gttcgaacct gaagggagca
     1381 tttgctgagg gaatagtctt gcacattttt tcatttctta cttgtctaaa agtaaaaaaa
     1441 aatatcagcc tgtctcctag gtcagtcccc tcctggaccc acccgctccc ttttttcctt
     1501 agccttcagt gccatggaac taatcaaggg aggaaaaggt caccagggag aactggacag
     1561 aactgaaaca cagcaacacc agttctcaag gacaaggtgt gtgatggggg taggaagctt
     1621 ggtgcttatg taaccatttt aaacgtggtt tctataggaa agaccaacat ttgtttagct
     1681 tgcttggctt taattatcta aagccaatga aagacttctt tgttgatttt ttaagataga
     1741 aagattaaaa agaaagaaag atgggaagaa aatgaatgtc agtcaaggaa aggccactta
     1801 aggatctgct ctatgaagga gaagaaagag gaaaaagaag taaaggagtt aggaggagac
     1861 acttaaatga aagattggca agaaaagcag tcggactcta ccttaaggag ggatgggaag
     1921 gaaagagttg agttggtttc tttctgattc ctctactcat gtagaaaaca cttgtacttc
     1981 tggaaatgga ctggagactt tttaaatttg agtccactat tgacatggaa accccagtgg
     2041 aatcagattt tccctcaaag accatgatgg tatcggacta gttttcagac actgcctgtt
     2101 gctgtccatc agcacttggt ctcttatctt cagtgagaag gtgacccgcc ttcttcccat
     2161 ggtggctgcc taaagtgctt cttttctaac ccaaaacagt tctactcact tccttttaca
     2221 gaattcaccg gccattttcc tgttacctga tccttctaca ggatttttaa aaagtaagag
     2281 agtttcagag aagccgatcc cataatcccc agtgcagcca gggtttgtgt gtcatcgtac
     2341 tggagtagag ggccgactct tcccatgaag gtgagcacag ctgtgagtga gtgagctcat
     2401 atctccattt gtcagtgctg gactggtacc agatcgtaac cttcccgttg gtcggaaact
     2461 tttccatctg tcgccctaga aaaagagaaa gcttaccatc gagggtgtgg ttgatccttg
     2521 aagctgcttg gtaaagttat catttcctca gtcttttctt ttgtactcct atcatgtatt
     2581 cattaatatc taccagtccc ttttcattct aagacaaaac atttctccta aatctctgaa
     2641 taaaatcagt gctgtaggaa gatggactgt gttgatcatg ggtgtaagca acccagttta
     2701 agaaacatgg caactaaagg gatacctcag gctttctttc ccagtgggtc atttttgtcc
     2761 tagttcagtg tgtctgttac tatttaaata tttatacaaa agggtttttg tttatagctt
     2821 aaggaatgat actgtgctct gcttggtgca tggagaaaaa ggaagacccg tactctccac
     2881 accctagagc ttttctctaa atattgtgca aagtttttgc tagttttatc ttctgacttt
     2941 gggactagtt tttgctgcag agttgtgttg ctttgtgatt ttcctctggg atagtgtact
     3001 gtacacaacc agatgtgttc cacactccgt gactccgcag tttgtcctgg agtgacatac
     3061 acatccacca tggaaaggga agcatctctg cctgtggatt ctcaagtact tggaagcacc
     3121 tctcctgagg aacctacagg attctaaggt ttcctaggtc actgaacaac taatcttggt
     3181 ccctgaatat ttctaggttt gtaagtgcag cagttttatt tcctctagaa ctcatcctgt
     3241 ttcaagggaa gtacctaaga agatatagag tgtttctagg gtaagggacc tgcaggtgta
     3301 agcatagatg aaataactgt cctgtcacat gtgcagcagg ccatggagtg tagcgggcat
     3361 cgctgccgcc attcctgcag catcaccata agcagtgcag ggtgtctcca tcgagctgtt
     3421 tggttccatg tgtgtttaac atgtgcagaa gtagcttctc tgtttaagtt taataaagtt
     3481 gagtttcacc agtc
//
