LOCUS       NM_033446               4838 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens multivesicular body subunit 12B (MVB12B), transcript
            variant 1, mRNA.
ACCESSION   NM_033446 XM_088525
VERSION     NM_033446.3
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 4838)
  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 4838)
  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
REFERENCE   3  (bases 1 to 4838)
  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   4  (bases 1 to 4838)
  AUTHORS   Nag,A., Venturini,C., Small,K.S., Young,T.L., Viswanathan,A.C.,
            Mackey,D.A., Hysi,P.G. and Hammond,C.
  CONSRTM   International Glaucoma Genetics Consortium
  TITLE     A genome-wide association study of intra-ocular pressure suggests a
            novel association in the gene FAM125B in the TwinsUK cohort
  JOURNAL   Hum Mol Genet 23 (12), 3343-3348 (2014)
   PUBMED   24518671
  REMARK    GeneRIF: Study suggests a novel association between SNPs in FAM125B
            andintra-ocular pressure in the TwinsUK cohort.
REFERENCE   5  (bases 1 to 4838)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   6  (bases 1 to 4838)
  AUTHORS   Letra,A., Menezes,R., Govil,M., Fonseca,R.F., McHenry,T.,
            Granjeiro,J.M., Castilla,E.E., Orioli,I.M., Marazita,M.L. and
            Vieira,A.R.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4838)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   8  (bases 1 to 4838)
  AUTHORS   Audhya,A., McLeod,I.X., Yates,J.R. and Oegema,K.
  TITLE     MVB-12, a fourth subunit of metazoan ESCRT-I, functions in receptor
            downregulation
  JOURNAL   PLoS One 2 (9), e956 (2007)
   PUBMED   17895996
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 4838)
  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   10 (bases 1 to 4838)
  AUTHORS   Hattori,A., Okumura,K., Nagase,T., Kikuno,R., Hirosawa,M. and
            Ohara,O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006443.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_033446.2.
            
            Summary: The protein encoded by this gene is a component of the
            ESCRT-I complex, a heterotetramer, which mediates the sorting of
            ubiquitinated cargo protein from the plasma membrane to the
            endosomal vesicle. ESCRT-I complex plays an essential role in HIV
            budding and endosomal protein sorting. Depletion and overexpression
            of this and related protein (MVB12A) inhibit HIV-1 infectivity and
            induce unusual viral assembly defects, indicating a role for MVB12
            subunits in regulating ESCRT-mediated virus budding. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes the longer 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 :: AK024432.1, SRR1803611.109826.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361171.8/ ENSP00000354772.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-182               AC006443.1         182727-182908       c
            183-305             AC006443.1         169107-169229       c
            306-413             AC006443.1         128566-128673       c
            414-510             AC006443.1         123079-123175       c
            511-640             AC006443.1         117542-117671       c
            641-763             AC006443.1         114040-114162       c
            764-858             AC006443.1         87789-87883         c
            859-914             AC006443.1         28313-28368         c
            915-974             AC006443.1         25705-25764         c
            975-4838            AC006443.1         2697-6560           c
FEATURES             Location/Qualifiers
     source          1..4838
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     gene            1..4838
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="multivesicular body subunit 12B"
                     /db_xref="GeneID:89853"
                     /db_xref="HGNC:HGNC:23368"
     exon            1..182
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..1061
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ESCRT-I complex subunit MVB12B; family with sequence
                     similarity 125, member B"
                     /codon_start=1
                     /product="multivesicular body subunit 12B isoform 1"
                     /protein_id="NP_258257.1"
                     /db_xref="CCDS:CCDS35142.1"
                     /db_xref="GeneID:89853"
                     /db_xref="HGNC:HGNC:23368"
                     /translation="MRSCFCVRRSRDPPPPQPPPPPPQRGTDQSTMPEVKDLSEALPE
                     TSMDPITGVGVVASRNRAPTGYDVVAQTADGVDADLWKDGLFKSKVTRYLCFTRSFSK
                     ENSHLGNVLVDMKLIDIKDTLPVGFIPIQETVDTQEVAFRKKRLCIKFIPRDSTEAAI
                     CDIRIMGRTKQAPPQYTFIGELNSMGIWYRMGRVPRNHDSSQPTTPSQSSAASTPAPN
                     LPRHISLTLPATFRGRNSTRTDYEYQHSNLYAISAMDGVPFMISEKFSCVPESMQPFD
                     LLGITIKSLAEIEKEYEYSFRTEQSAAARLPPSPTRCQQIPQS"
     exon            183..305
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     exon            306..413
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     exon            414..510
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     exon            511..640
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     exon            641..763
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     exon            764..858
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     exon            859..914
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     exon            915..974
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     exon            975..4838
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4814..4819
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="hexamer: AATAAA"
     polyA_site      4838
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="major polyA site"
ORIGIN      
        1 gccgccgccg ccgccgctct cggtgaggct cgcgctcgag ctgcggcgcc ggctcctgcc
       61 gcctgggccc cgggcccggc ccctcccgcg ccgcccgggc gatgagaagc tgcttctgcg
      121 tgagacggag ccgggacccg ccgccgccgc agccaccgcc gccgccgccc cagcggggaa
      181 cagaccagtc caccatgcct gaagtcaaag acctctcaga agccttgcca gaaacgtcaa
      241 tggatcccat cacgggagtc ggggtggtgg cttctcggaa ccgagccccg acaggctatg
      301 acgtagttgc acagacagca gatggtgtgg atgctgacct ctggaaagac ggcttattta
      361 aatccaaggt taccagatac ctgtgtttca caagatcatt ttccaaagaa aatagtcatc
      421 tggggaacgt gttagtagat atgaagctca ttgacatcaa ggacacactg cctgtgggct
      481 tcatcccaat tcaggagacg gtggacacac aggaagtggc ttttaggaag aagaggctgt
      541 gcattaaatt tattccacgg gattcaacgg aagctgcgat ttgtgacatt cggatcatgg
      601 gccggaccaa gcaggccccg cctcagtaca cgtttattgg ggaactgaac agcatgggga
      661 tctggtatcg aatgggcaga gtaccaagaa atcatgactc atctcaaccc acaacgcctt
      721 cccagtcatc agctgcctcc accccagccc ccaaccttcc caggcacatc tccctaacac
      781 ttcctgccac cttccgaggc aggaacagca cccggacgga ctacgagtac cagcactcca
      841 atttgtatgc catatcagca atggatggtg tgccttttat gatttcagag aagttttctt
      901 gtgttccaga aagtatgcag ccctttgatc tcctgggaat caccatcaaa tctctagcag
      961 aaatcgaaaa agagtacgag tacagcttcc gcacagagca gagcgcagcc gccaggctcc
     1021 cgcccagccc caccaggtgt cagcagatcc cgcagtcctg aggagccagc ggccacctgc
     1081 ggggagacca ccgccgccca gactactgac ggcaggggct gctgcccccg cctcctcctg
     1141 ccgcctccgc cagccctccc tcccacactg ccccagcagg gctggcccgg agactgggca
     1201 gctaagtggg cgcatcctgt cttcagctgg cctcactgac accccggcct ccctggggac
     1261 attgttcata accatgacta atctgtgtgt gctgtagtga ccagcggctc ctaacgtgtc
     1321 tgtgtgatga ccagttgtcc tccaaaaacc tcactcacca cggagtcacc ctgagggccc
     1381 cgggcagttg ccctggccgc ccagtgacgc ccaccggctc cctccgctcc ctcctgtcac
     1441 ctaccagggc agaccccact aagccgttga gtctcttcct ggaagaccct gagggccggc
     1501 agctttgcct aggactctcc agggtcgctg atcctccccg gcccagggct gccaggaaca
     1561 agttcctctc tgcaggatct cacagcagcc ctgagaagac atgggaggaa gaagccagtg
     1621 gccctggggt ggaccctgcc ctttggacat cccatggact tgtcacccag tcgcctggaa
     1681 gtcggggagc agcacccctg cccccggtgg aggggttgtt gctttctggg gaggaggacg
     1741 gttgacggcc ctgcttggat ccaccaccag gacgctgtgc tcggccatgg cgcgcctccc
     1801 ccaagggctc atctgtgcaa caaccacatg ccaacaatag ctccaggtgc ctcagccccg
     1861 tgccctgacc cggggaccac agggacaccc tctgagacgt gctggcccca ggaggataca
     1921 ggcacacggg cacccagccc ctctcagagc caggcgtgtc ttgacggtat ctgctgacgg
     1981 gaacaagtca ttctgaaagg tccctctgac ccaggtcacc aaatttgggc cagaactggc
     2041 acttccgagt gcccactggt gctggcgtcc tcaaagtgcc gggcgccaag ttcagcccca
     2101 ggtgcgtttg cctaggcagt ggtggctgcc atccctcggg gcccaggccc tcacccgaag
     2161 ggctgcctca ctctgtggtg tcaggcactg ggctgtgtcc tgattcctca gagtatgggg
     2221 acctgacatc tttgggtccc caagagttgg ctcttggatg tggaggcttg atgctgcggt
     2281 tgggggctgc actacctgcg tccgtggaag cctctgcctc agcggggacg gcctcctgct
     2341 gcaggtcctg ggcagcccac agtagtgcta gctgaggccc agaggaacgg gaggaaaggg
     2401 aggcagcgcc ggacggcgca gctggccaag aggcgggcgg ggccagaaat acctcatgcc
     2461 cctgcaccag cccctccgtc tccaggcccc aggcctcttt gtggacccat cttcctcctc
     2521 tgccaccccg atcttcactc ggatacctct tgatttctgt ggataaggga agcggccact
     2581 tctccctccc tgagacccga ggatgcccct ggtgggggtg gccttctcag gactcctggg
     2641 tggcacagca gcaggacctt gtcatgggac tgatgctgag cagggagggg gctgccaggc
     2701 tggctgccga tgctccgttc acataagcca gtgtggttct ggggacctga ggagccctgt
     2761 ggcacccaca gggggcacct atgtctgccg tggctcctcg ggtggtgccc tgtgtgacaa
     2821 agcccaacag caagggtgac tcctggcagg tgggggcagc aggagggcag agggcagagc
     2881 tctggccact tctgcccact tcattagggt ttgtgaactt tgtccttcac ctcttttcgt
     2941 gccctggttg tgagattgcc tctaacaggt aatgccaggg gcccttcact ccgcccccat
     3001 gactgggaag aggcctgtgg cagcgccgct ggaccctagg aggctcagag gcagtggtgt
     3061 gggagccctg tctgcaagga cgcagaataa gcagtgaggg cggctgcagg agaggaaggg
     3121 gctcccacag cccccactga tgccgctgca ggcccctgtc gagctggggt cccagccagg
     3181 tgcccccgca tgccctcctg cagttgctgg atggataggg acaccaggaa gaggacaaac
     3241 tgcatggact caagcgagct ggagccatct tctccatagc attacggact tagcataaga
     3301 gtaaatgact gtgaacgttg tagtaaacgg cagcttaaga taagtaagca gagacagtgt
     3361 taaggacgag ttggtgtctg tggtagcttt taggctgctc ctaacccacc atttattgcc
     3421 ttctgagagg tgggtgagga caagcatgtg cctgtgtgtg tgtgtgtgtg tgtgtgtata
     3481 tgtgtgtgtg tgcacgcaca tgcgtgtgta taagcccacc tgagtggggc tcgtgcagga
     3541 gaactgaggc atgaaactct ggctcaaacc taggaattga gagcgtttct gtcttttggg
     3601 agagtacttt tctccacgag ccctctggcc actgtgggag ggaaggacaa gggttccctt
     3661 ggaaatgtga agggtcttgg cctcatccct caggtccccc cacagcactt cccactactg
     3721 cttctgtccc tgctggcagc ctctgtccct ccagaacggc taaccagagc acactgtccc
     3781 caccgcctcc cctttctctc tggaaagttg aagtatctcc aaaggccttg gaaatggcac
     3841 aaaggtgata aggagcaggt gctttgctgc agtctccctt gcaaatgtat aattaaggcc
     3901 tttcttccca ccccaagtcc aagaacaaat gccagccacg tcctccgcca cttggagaga
     3961 tgagaaccca gtggggtcac gtaaaggaat tgcaggtcgg tgagaggaca agagggactc
     4021 ccatgttcta agcacctgtt cctggccagg ctctaggcca ggctctctaa gcacatttct
     4081 cctttcattc cccctaaaaa cagagtgacc tggaagtaga tgttctttgc tccttgtcag
     4141 agttgaagag gctgacttgg cccactgcta agcggcagag gcagggccag ccatcctgtc
     4201 gcaagcccgt gctggggctg ccctttctgt ttccagtcca gttacggact tcccggccgc
     4261 cactgggccc tgccggtcac caggccactg tgcagtgggc gcagagcatg gtcaggagtg
     4321 gcctgcccgt actcctccac ccagatgagg gccctccaga gcctgcaggc atctgtgggg
     4381 aatcccagcc tgcaggttct tggagaagca ggtgaaccta aggatgaaag caaaggaggg
     4441 ccttgaggaa gcagccccca ggcctggcag ccacgcagcg gctgagctca tgaacttggt
     4501 tcgcagcctg ccttgcccct ggaggccacg ccaggcgctc acccctgagc ccacagcccc
     4561 tgcttgggct gcctggcacc ctcagggtgg cccggcctcc tcctgccact ctgagcacat
     4621 gtccgggggt tgccaccaga gacggctttg ttctcccagc taaggccgtg gagctgctgt
     4681 gtgactgtgt caggcctgga caaggaagac ccttagggat gacgtccccg ctgcatattt
     4741 attcaaggtg actcttgtac ttggcaaggg aagtccactg tgtgattgtc tgtattctta
     4801 atataatttg ttaaataaac gtttgtttta acctcttt
//
