LOCUS       NM_001011703            2703 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens multivesicular body subunit 12B (MVB12B), transcript
            variant 2, mRNA.
ACCESSION   NM_001011703
VERSION     NM_001011703.3
KEYWORDS    RefSeq.
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 2703)
  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 2703)
  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 2703)
  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 2703)
  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 2703)
  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 2703)
  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 2703)
  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 2703)
  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 2703)
  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 2703)
  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, DA339911.1,
            BC028675.1, BC000122.1 and BC041601.1.
            
            On May 31, 2019 this sequence version replaced NM_001011703.2.
            
            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 (2) differs at the 3' end compared
            to variant 1. This results in a shorter isoform (2) with a distinct
            C-terminus compared to 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 :: BC028675.1, SRR1803615.161663.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AC006443.1         182894-182908       c
            16-33               DA339911.1         1-18
            34-235              BC028675.1         5-206
            236-763             BC000122.1         196-723
            764-2699            BC041601.1         319-2254
            2700-2703           AC006443.1         112100-112103       c
FEATURES             Location/Qualifiers
     source          1..2703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     gene            1..2703
                     /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..767
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ESCRT-I complex subunit MVB12B; family with sequence
                     similarity 125, member B"
                     /codon_start=1
                     /product="multivesicular body subunit 12B isoform 2"
                     /protein_id="NP_001011703.1"
                     /db_xref="CCDS:CCDS48022.1"
                     /db_xref="GeneID:89853"
                     /db_xref="HGNC:HGNC:23368"
                     /translation="MRSCFCVRRSRDPPPPQPPPPPPQRGTDQSTMPEVKDLSEALPE
                     TSMDPITGVGVVASRNRAPTGYDVVAQTADGVDADLWKDGLFKSKVTRYLCFTRSFSK
                     ENSHLGNVLVDMKLIDIKDTLPVGFIPIQETVDTQEVAFRKKRLCIKFIPRDSTEAAI
                     CDIRIMGRTKQAPPQYTFIGELNSMGIWYRMGRVPRNHDSSQPTTPSQSSAASTPAPN
                     LPR"
     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..2703
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2575..2580
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="hexamer: AATAAA"
     regulatory      2580..2585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="hexamer: AACAAA"
     polyA_site      2595
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="major polyA site"
     polyA_site      2600
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="major polyA site"
     regulatory      2679..2684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MVB12B"
                     /gene_synonym="C9orf28; FAM125B"
                     /note="hexamer: AGTAAA"
     polyA_site      2703
                     /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 caggtgaggc cttgtcgggg
      781 tgtcttgcgt tgtcctgtgg tcttaggtcc ctgcacaaca ttttagaaca ccaccactta
      841 gtgtctgctg aaatactgca aagtacagct gaataattgt agaagcaata tatctttaga
      901 ggagattttt aaaaatccac ttggaaatct ttgcattaca tgaatgcaaa ggccattcta
      961 tagtctattt tgtgcgtgtt ctgcaggctt ctaaaattgc agattatgca acttaaaatt
     1021 ggctccctat tcaaaagagc tgctagctac acacagacac gtgctgtata gccatggggt
     1081 tgggatcact ggccttaagg tcaaattcct tctctgtctt ggccagcaac tcatttgaaa
     1141 cccaggaggg taggtgagtt cttatattct tcattttcat ataatttctt tttccaatga
     1201 gctataaagt aagaaatggg tagtttgggt atgagagaat agtgaggagt ttttcaggaa
     1261 atgctagttt taacaattgt ctccgcaaag aaacttgggt gagccaactg tttgctctgc
     1321 aactgatttc agtcataaca gaggtagtaa cagtctctac actttctgca aaaagaatcc
     1381 tgtcaaataa aaatcctgtg catcactagg agtaaactaa gggcaaggaa caaacagcac
     1441 tgatggatta agcttgagaa agggattgca aaagtaaata aaacaagaac ggtgaggcag
     1501 caacacttag ggattgacat aacgtaaatg agaatggatc tccaagcttc cacgtgggtg
     1561 aatagagatg aacaaaatct gtcaggaacc ggacagaaga gtcaccagta ggtcttcctg
     1621 ggccatccac aatacagcct gccctccggg acataccacc agctctctgt actctgttcc
     1681 tctgtgccaa gcctccgtct cacttggaag aatgtgctgt aatgaggctc caaagccctg
     1741 aggactctgt cctctgggac atccccctat aaagacaatc tggtccttct catgacagtt
     1801 tcacaaacca agagtggtat ttaaacttaa ctacccctgg aattgcctga aactttagaa
     1861 gtagttttca gtttcatttg gcataaaaag ataggaatct ctaataagcc tcccagagtt
     1921 gcagggtgaa cagttgagtc tctgttgggt tcaagagtgt gaggttcgca ctgcccatca
     1981 gcacttgttc ctcacttctg agccagagcg ctgtcagctc cgccctggag ggcactgctg
     2041 agggtcactg tctcctgtgc tcaaggctat atcaggtgtg tcacctgtgc tggggagtca
     2101 gctaagtcca tcacctgtgt gtcggggtcc tccatcacct gtgctgaggc ccatcacttg
     2161 tacttggagc agctcaagtg tgggctcctt gcagaggctg gaaagccccc acaggagcag
     2221 ttgccctgaa gttgttacag ctgctccctg ctgacatcat gtggtctaga agggcccaga
     2281 aatgggcacc acctcaggca ggttttgact ttctgtggtt aaagaaagaa caccagttct
     2341 ctcagataaa gcagagagag ctctcagaag cctgctggtg actgtgagag caaagtcact
     2401 tgcacctgaa gcaagacagc cgagaacacc gagccaccgg cagcctggtg ggtttggagg
     2461 gtagtgcgtc agaaccagat gtttataagg cttatgtatt ttatcacctc tgctgtacag
     2521 tttatggttt acaatggctg caaggaaatc ggatcagttt tgttttactt gccaaataaa
     2581 acaaatgtca aaatagtcaa tataaaatgt attctaattt ggctgagtta agtcagccaa
     2641 tatgcaacag gataattgaa tgttcattag tgcttccaag taaaagccat ttgtctgtcc
     2701 caa
//
