LOCUS       NM_005498               1748 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens adaptor related protein complex 1 subunit mu 2
            (AP1M2), transcript variant 2, mRNA.
ACCESSION   NM_005498
VERSION     NM_005498.5
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 1748)
  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 1748)
  AUTHORS   Muthu,M., Chun,S., Gopal,J., Park,G.S., Nile,A., Shin,J., Shin,J.,
            Kim,T.H. and Oh,J.W.
  TITLE     The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy?
  JOURNAL   Int J Mol Sci 21 (15), 5583 (2020)
   PUBMED   32759789
  REMARK    GeneRIF: The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy?
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1748)
  AUTHORS   Hinds,D.A., Buil,A., Ziemek,D., Martinez-Perez,A., Malik,R.,
            Folkersen,L., Germain,M., Malarstig,A., Brown,A., Soria,J.M.,
            Dichgans,M., Bing,N., Franco-Cereceda,A., Souto,J.C.,
            Dermitzakis,E.T., Hamsten,A., Worrall,B.B., Tung,J.Y. and
            Sabater-Lleal,M.
  CONSRTM   METASTROKE Consortium, INVENT Consortium
  TITLE     Genome-wide association analysis of self-reported events in 6135
            individuals and 252 827 controls identifies 8 loci associated with
            thrombosis
  JOURNAL   Hum Mol Genet 25 (9), 1867-1874 (2016)
   PUBMED   26908601
  REMARK    GeneRIF: Variants in AP1M2 gene is associated with thrombosis.
REFERENCE   4  (bases 1 to 1748)
  AUTHORS   Folsch,H.
  TITLE     Role of the epithelial cell-specific clathrin adaptor complex AP-1B
            in cell polarity
  JOURNAL   Cell Logist 5 (2), e1074331 (2015)
   PUBMED   27057418
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1748)
  AUTHORS   Casabonne,D., Reina,O., Benavente,Y., Becker,N., Maynadie,M.,
            Foretova,L., Cocco,P., Gonzalez-Neira,A., Nieters,A., Boffetta,P.,
            Middeldorp,J.M. and de Sanjose,S.
  TITLE     Single nucleotide polymorphisms of matrix metalloproteinase 9
            (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus
            in chronic lymphocytic leukemia: results from the European
            case-control study EpiLymph
  JOURNAL   Haematologica 96 (2), 323-327 (2011)
   PUBMED   21048031
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   6  (bases 1 to 1748)
  AUTHORS   Ohno,H., Tomemori,T., Nakatsu,F., Okazaki,Y., Aguilar,R.C.,
            Foelsch,H., Mellman,I., Saito,T., Shirasawa,T. and Bonifacino,J.S.
  TITLE     Mu1B, a novel adaptor medium chain expressed in polarized
            epithelial cells
  JOURNAL   FEBS Lett 449 (2-3), 215-220 (1999)
   PUBMED   10338135
REFERENCE   7  (bases 1 to 1748)
  AUTHORS   Stephens,D.J. and Banting,G.
  TITLE     Specificity of interaction between adaptor-complex medium chains
            and the tyrosine-based sorting motifs of TGN38 and lgp120
  JOURNAL   Biochem J 335 (Pt 3) (Pt 3), 567-572 (1998)
   PUBMED   9794796
REFERENCE   8  (bases 1 to 1748)
  AUTHORS   Hirst,J. and Robinson,M.S.
  TITLE     Clathrin and adaptors
  JOURNAL   Biochim Biophys Acta 1404 (1-2), 173-193 (1998)
   PUBMED   9714795
  REMARK    Review article
REFERENCE   9  (bases 1 to 1748)
  AUTHORS   Seaman,M.N., Sowerby,P.J. and Robinson,M.S.
  TITLE     Cytosolic and membrane-associated proteins involved in the
            recruitment of AP-1 adaptors onto the trans-Golgi network
  JOURNAL   J Biol Chem 271 (41), 25446-25451 (1996)
   PUBMED   8810314
REFERENCE   10 (bases 1 to 1748)
  AUTHORS   Ohno,H., Stewart,J., Fournier,M.C., Bosshart,H., Rhee,I.,
            Miyatake,S., Saito,T., Gallusser,A., Kirchhausen,T. and
            Bonifacino,J.S.
  TITLE     Interaction of tyrosine-based sorting signals with
            clathrin-associated proteins
  JOURNAL   Science 269 (5232), 1872-1875 (1995)
   PUBMED   7569928
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005021.1, AF020797.2 and
            BE044092.1.
            
            On Jun 2, 2019 this sequence version replaced NM_005498.4.
            
            Summary: This gene encodes a subunit of the heterotetrameric
            adaptor-related protein comlex 1 (AP-1), which belongs to the
            adaptor complexes medium subunits family. This protein is capable
            of interacting with tyrosine-based sorting signals. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2014].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. It
            encodes isoform 2, which is shorter than isoform 1.
            
            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 :: BC003612.2, AK023863.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000250244.11/ ENSP00000250244.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                BC005021.1         4-37
            35-1330             AF020797.2         1-1296
            1331-1748           BE044092.1         6-423               c
FEATURES             Location/Qualifiers
     source          1..1748
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1748
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /note="adaptor related protein complex 1 subunit mu 2"
                     /db_xref="GeneID:10053"
                     /db_xref="HGNC:HGNC:558"
                     /db_xref="MIM:607309"
     exon            1..123
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..1353
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /note="isoform 2 is encoded by transcript variant 2; AP-mu
                     chain family member mu1B; clathrin-associated adaptor
                     medium chain mu2; clathrin coat assembly protein AP47 2;
                     clathrin coat associated protein AP47 2; clathrin assembly
                     protein complex 1 mu-2 medium chain 2; golgi adaptor AP-1
                     47 kDa protein; adaptor related protein complex 1 mu 2
                     subunit; HA1 47 kDa subunit 2; mu-adaptin 2; mu1B-adaptin;
                     adaptor protein complex AP-1 mu-2 subunit; golgi adaptor
                     HA1/AP1 adaptin mu-2 subunit"
                     /codon_start=1
                     /product="AP-1 complex subunit mu-2 isoform 2"
                     /protein_id="NP_005489.2"
                     /db_xref="CCDS:CCDS45964.1"
                     /db_xref="GeneID:10053"
                     /db_xref="HGNC:HGNC:558"
                     /db_xref="MIM:607309"
                     /translation="MSASAVFILDVKGKPLISRNYKGDVAMSKIEHFMPLLVQREEEG
                     ALAPLLSHGQVHFLWIKHSNLYLVATTSKNANASLVYSFLYKTIEVFCEYFKELEEES
                     IRDNFVIVYELLDELMDFGFPQTTDSKILQEYITQQSNKLETGKSRVPPTVTNAVSWR
                     SEGIKYKKNEVFIDVIESVNLLVNANGSVLLSEIVGTIKLKVFLSGMPELRLGLNDRV
                     LFELTGRSKNKSVELEDVKFHQCVRLSRFDNDRTISFIPPDGDFELMSYRLSTQVKPL
                     IWIESVIEKFSHSRVEIMVKAKGQFKKQSVANGVEISVPVPSDADSPRFKTSVGSAKY
                     VPERNVVIWSIKSFPGGKEYLMRAHFGLPSVEKEEVEGRPPIGVKFEIPYFTVSGIQV
                     RYMKIIEKSGYQALPWVRYITQSGDYQLRTS"
     exon            124..280
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            281..348
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            349..479
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            480..627
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            628..754
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            755..897
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            898..969
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1128
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            1129..1254
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1330
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1748
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1731..1736
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /note="hexamer: ATTAAA"
     polyA_site      1748
                     /gene="AP1M2"
                     /gene_synonym="AP1-mu2; HSMU1B; MU-1B; MU1B; mu2"
                     /note="major polyA site"
ORIGIN      
        1 gcttccgcag gaagaaggaa gcggcgccgc catcgcctcc cggcgctccc tccccgactc
       61 ctaagtcctt cggccgccac catgtccgcc tcggctgtct tcattctgga cgttaagggc
      121 aagccattga tcagccgcaa ctacaagggc gatgtggcca tgagcaagat tgagcacttc
      181 atgcctttgc tggtacagcg ggaggaggaa ggcgccctgg ccccgctgct gagccacggc
      241 caggtccact tcctatggat caaacacagc aacctctact tggtggccac cacatcgaag
      301 aatgccaatg cctccctggt gtactccttc ctgtataaga caatagaggt attctgcgaa
      361 tacttcaagg agctggagga ggagagcatc cgggacaact ttgtcatcgt ctacgagttg
      421 ctggacgagc tcatggactt tggcttcccg cagaccaccg acagcaagat cctgcaggag
      481 tacatcactc agcagagcaa caagctggag acgggcaagt cacgggtgcc acccactgtc
      541 accaacgctg tgtcctggcg ctccgagggt atcaagtata agaagaacga ggtcttcatt
      601 gatgtcatag agtctgtcaa cctgctggtc aatgccaacg gcagcgtcct tctgagcgaa
      661 atcgtcggta ccatcaagct caaggtgttt ctgtcaggaa tgccagagct gcggctgggc
      721 ctcaatgacc gcgtgctctt cgagctcact ggccgcagca agaacaaatc agtagagctg
      781 gaggatgtaa aattccacca gtgcgtgcgg ctctctcgct ttgacaacga ccgcaccatc
      841 tccttcatcc cgcctgatgg tgactttgag ctcatgtcat accgcctcag cacccaggtc
      901 aagccactga tctggattga gtctgtcatt gagaagttct cccacagccg cgtggagatc
      961 atggtcaagg ccaaggggca gtttaagaaa cagtcagtgg ccaacggtgt ggagatatct
     1021 gtgcctgtac ccagcgatgc cgactccccc agattcaaga ccagtgtggg cagcgccaag
     1081 tatgtgccgg agagaaacgt cgtgatttgg agtattaagt ctttcccggg gggcaaggag
     1141 tacttgatgc gagcccactt tggcctcccc agtgtggaaa aggaagaggt ggagggccgg
     1201 ccccccatcg gggtcaagtt tgagatcccc tacttcaccg tctctgggat ccaggtccga
     1261 tacatgaaga tcattgagaa aagtggttac caggccctgc cctgggttcg ctacatcacc
     1321 cagagtggcg attaccaact tcgtaccagc tagaagggag aagagatggg ggcttgaaca
     1381 cggggcttcc ttacagcccc ggatgcagat tttagaggga gggcaggtgc gggctgtgtg
     1441 tgtctgtgtg agggcaggtc ctggacttgg cagtttcttg ctcccagcac ccgccccttc
     1501 ctcacctctt ccttattcca taggctggga gagaaactct ctctgcttcc ctcgcccttg
     1561 gagctttccc catccccctg attttatatg aagaaataga agaggggctt gaagtcctcc
     1621 tcgcgagtgc cttcttgcaa ttacctgcct tagcgggtgt tgcgggtccc tccttcacag
     1681 ccgctgagcc cagaggtccc gctggcccct cctctgaatt ttaggatgtc attaaaaaga
     1741 tgaatcta
//
