LOCUS       NM_138401               1250 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens multivesicular body subunit 12A (MVB12A), transcript
            variant 1, mRNA.
ACCESSION   NM_138401
VERSION     NM_138401.4
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 1250)
  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 1250)
  AUTHORS   Flower,T.G., Takahashi,Y., Hudait,A., Rose,K., Tjahjono,N.,
            Pak,A.J., Yokom,A.L., Liang,X., Wang,H.G., Bouamr,F., Voth,G.A. and
            Hurley,J.H.
  TITLE     A helical assembly of human ESCRT-I scaffolds reverse-topology
            membrane scission
  JOURNAL   Nat Struct Mol Biol 27 (6), 570-580 (2020)
   PUBMED   32424346
  REMARK    GeneRIF: A helical assembly of human ESCRT-I scaffolds
            reverse-topology membrane scission.
REFERENCE   3  (bases 1 to 1250)
  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 1250)
  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 1250)
  AUTHORS   Boura,E. and Hurley,J.H.
  TITLE     Structural basis for membrane targeting by the MVB12-associated
            beta-prism domain of the human ESCRT-I MVB12 subunit
  JOURNAL   Proc Natl Acad Sci U S A 109 (6), 1901-1906 (2012)
   PUBMED   22232651
REFERENCE   6  (bases 1 to 1250)
  AUTHORS   Tsunematsu,T., Yamauchi,E., Shibata,H., Maki,M., Ohta,T. and
            Konishi,H.
  TITLE     Distinct functions of human MVB12A and MVB12B in the ESCRT-I
            dependent on their posttranslational modifications
  JOURNAL   Biochem Biophys Res Commun 399 (2), 232-237 (2010)
   PUBMED   20654576
  REMARK    GeneRIF: These results suggest that the expression of MVB12B may be
            normally suppressed through the ubiquitin-proteasome pathway that
            simultaneously regulates the fate of MVB12A and the functions of
            ESCRT-I.
            Erratum:[Biochem Biophys Res Commun. 2011 Mar 4;406(1):158-9]
REFERENCE   7  (bases 1 to 1250)
  AUTHORS   Hurley,J.H. and Hanson,P.I.
  TITLE     Membrane budding and scission by the ESCRT machinery: it's all in
            the neck
  JOURNAL   Nat Rev Mol Cell Biol 11 (8), 556-566 (2010)
   PUBMED   20588296
  REMARK    Review article
REFERENCE   8  (bases 1 to 1250)
  AUTHORS   Morita,E., Sandrin,V., Alam,S.L., Eckert,D.M., Gygi,S.P. and
            Sundquist,W.I.
  TITLE     Identification of human MVB12 proteins as ESCRT-I subunits that
            function in HIV budding
  JOURNAL   Cell Host Microbe 2 (1), 41-53 (2007)
   PUBMED   18005716
REFERENCE   9  (bases 1 to 1250)
  AUTHORS   Konishi,H., Tashiro,K., Murata,Y., Nabeshi,H., Yamauchi,E. and
            Taniguchi,H.
  TITLE     CFBP is a novel tyrosine-phosphorylated protein that might function
            as a regulator of CIN85/CD2AP
  JOURNAL   J Biol Chem 281 (39), 28919-28931 (2006)
   PUBMED   16895919
  REMARK    GeneRIF: CFBP is a novel tyrosine-phosphorylated protein that might
            function as a regulator of CIN85/CD2AP
REFERENCE   10 (bases 1 to 1250)
  AUTHORS   Wistow,G., Bernstein,S.L., Ray,S., Wyatt,M.K., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD672349.1, BC011840.2 and BP394542.1.
            
            On Nov 23, 2018 this sequence version replaced NM_138401.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK289487.1, SRR1163655.242545.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317040.12/ ENSP00000324810.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                CD672349.1         141-196
            57-1249             BC011840.2         1-1193
            1250-1250           BP394542.1         424-424
FEATURES             Location/Qualifiers
     source          1..1250
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..1250
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /note="multivesicular body subunit 12A"
                     /db_xref="GeneID:93343"
                     /db_xref="HGNC:HGNC:25153"
     exon            1..179
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..911
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     CIN85/CD2AP family binding protein; ESCRT-I complex
                     subunit MVB12A; family with sequence similarity 125,
                     member A"
                     /codon_start=1
                     /product="multivesicular body subunit 12A isoform 1"
                     /protein_id="NP_612410.1"
                     /db_xref="CCDS:CCDS12359.1"
                     /db_xref="GeneID:93343"
                     /db_xref="HGNC:HGNC:25153"
                     /translation="MDPVPGTDSAPLAGLAWSSASAPPPRGFSAISCTVEGAPASFGK
                     SFAQKSGYFLCLSSLGSLENPQENVVADIQIVVDKSPLPLGFSPVCDPMDSKASVSKK
                     KRMCVKLLPLGATDTAVFDVRLSGKTKTVPGYLRIGDMGGFAIWCKKAKAPRPVPKPR
                     GLSRDMQGLSLDAASQPSKGGLLERTASRLGSRASTLRRNDSIYEASSLYGISAMDGV
                     PFTLHPRFEGKSCSPLAFSAFGDLTIKSLADIEEEYNYGFVVEKTAAARLPPSVS"
     exon            180..278
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /inference="alignment:Splign:2.1.0"
     exon            279..375
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /inference="alignment:Splign:2.1.0"
     exon            376..502
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /inference="alignment:Splign:2.1.0"
     exon            503..622
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /inference="alignment:Splign:2.1.0"
     exon            623..729
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /inference="alignment:Splign:2.1.0"
     exon            730..791
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /inference="alignment:Splign:2.1.0"
     exon            792..848
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /inference="alignment:Splign:2.1.0"
     exon            849..1250
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1227..1232
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /note="hexamer: AATAAA"
     polyA_site      1250
                     /gene="MVB12A"
                     /gene_synonym="CFBP; FAM125A"
                     /note="major polyA site"
ORIGIN      
        1 gtagttcggt cgcgagcgct gccgtcggga ggcgctccga ggttcgaggc tgtgccccgc
       61 gaccccgcct tcggcgctcg gctcgcagga tggatcccgt acccgggaca gactcggcgc
      121 cgctggctgg cctggcctgg tcgtcggcct ctgcaccccc gccgcggggg ttcagcgcga
      181 tctcctgcac cgtcgagggg gcacccgcca gctttggcaa gagcttcgcg cagaaatctg
      241 gctacttcct gtgccttagt tctctgggca gcctagagaa cccgcaggag aacgtggtgg
      301 ccgatatcca gatcgtggtg gacaagagcc ccctgccgct gggcttctcc cccgtctgcg
      361 accccatgga ttccaaggcc tctgtgtcca agaagaaacg catgtgtgtg aagctgttgc
      421 ccctgggagc cacggacacg gctgtgtttg atgtccggct gagtgggaag accaagacag
      481 tgcctggata ccttcgaata ggggacatgg gcggctttgc catctggtgc aagaaggcca
      541 aggccccgag gccagtgccc aagccccgag gtctcagccg ggacatgcag ggcctctctc
      601 tggatgcagc cagccagcca agtaagggcg gcctcctgga gcggacagcg tcaaggctgg
      661 gctctcgggc atccactctg cggaggaatg actccatcta cgaggcctcc agcctctatg
      721 gcatctcagc catggatggg gttcccttca cactccaccc acgatttgag ggcaagagct
      781 gcagccccct ggccttctct gcttttgggg acctgaccat caagtctctg gcggacattg
      841 aggaggagta taactacggc ttcgtggtgg agaagaccgc ggctgcccgc ctgcccccca
      901 gcgtctcata gtccctcacc cttccgcgga aagagccccc ttactccacc tccccgccag
      961 cctggggcca ccccccctca ctgcatcctg gggccacccc cactcactgc atcctgggaa
     1021 ccttcgccct gcaaggcgtt tgctatcttc agccactggg cggagctgca gccctggagg
     1081 agggggcggg tcgaggctgc gtggtgatgg ggtctccgcc cccacgccct gccgggcagg
     1141 gctggagctg gacagaagcc agtgccttta agtcatttgt gtcaaaaccc tctggggtcc
     1201 ggaggctgtg cgggtgtcct cctggcaata aacactaccc ggttctcgcc
//
