LOCUS       NM_017918               2230 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial calcium uniporter dominant negative
            subunit beta (MCUB), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_017918
VERSION     NM_017918.5
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 2230)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2230)
  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   3  (bases 1 to 2230)
  AUTHORS   Lambert,J.P., Luongo,T.S., Tomar,D., Jadiya,P., Gao,E., Zhang,X.,
            Lucchese,A.M., Kolmetzky,D.W., Shah,N.S. and Elrod,J.W.
  TITLE     MCUB Regulates the Molecular Composition of the Mitochondrial
            Calcium Uniporter Channel to Limit Mitochondrial Calcium Overload
            During Stress
  JOURNAL   Circulation 140 (21), 1720-1733 (2019)
   PUBMED   31533452
  REMARK    GeneRIF: MCUB-dependent changes in mitochondrial calcium uniporter
            stoichiometry are a prominent regulatory mechanism to modulate
            mitochondrial Ca(2+) uptake and cardiac myocyte cellular
            physiology.
REFERENCE   4  (bases 1 to 2230)
  AUTHORS   Xu,R., Han,M., Xu,Y., Zhang,X., Zhang,C., Zhang,D., Ji,J., Wei,Y.,
            Wang,S., Huang,B., Chen,A., Zhang,Q., Li,W., Sun,T., Wang,F., Li,X.
            and Wang,J.
  TITLE     Coiled-coil domain containing 109B is a HIF1alpha-regulated gene
            critical for progression of human gliomas
  JOURNAL   J Transl Med 15 (1), 165 (2017)
   PUBMED   28754121
  REMARK    GeneRIF: This study elucidated a role for CCDC109B as an oncogene
            and a prognostic marker in human gliomas.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2230)
  AUTHORS   Sancak,Y., Markhard,A.L., Kitami,T., Kovacs-Bogdan,E., Kamer,K.J.,
            Udeshi,N.D., Carr,S.A., Chaudhuri,D., Clapham,D.E., Li,A.A.,
            Calvo,S.E., Goldberger,O. and Mootha,V.K.
  TITLE     EMRE is an essential component of the mitochondrial calcium
            uniporter complex
  JOURNAL   Science 342 (6164), 1379-1382 (2013)
   PUBMED   24231807
  REMARK    GeneRIF: MCUb (also known as CCDC109b) is a paralogue of MCU
            (CCDC109a).  MCUb physically resides within the mitochondrial
            uniporter complex (uniplex), which consists of the MCU, MCUb, EMRE,
            MICU1, and MICU2.
REFERENCE   6  (bases 1 to 2230)
  AUTHORS   Raffaello,A., De Stefani,D., Sabbadin,D., Teardo,E., Merli,G.,
            Picard,A., Checchetto,V., Moro,S., Szabo,I. and Rizzuto,R.
  TITLE     The mitochondrial calcium uniporter is a multimer that can include
            a dominant-negative pore-forming subunit
  JOURNAL   EMBO J 32 (17), 2362-2376 (2013)
   PUBMED   23900286
REFERENCE   7  (bases 1 to 2230)
  AUTHORS   Fritsche,L.G., Chen,W., Schu,M., Yaspan,B.L., Yu,Y.,
            Thorleifsson,G., Zack,D.J., Arakawa,S., Cipriani,V., Ripke,S.,
            Igo,R.P. Jr., Buitendijk,G.H., Sim,X., Weeks,D.E., Guymer,R.H.,
            Merriam,J.E., Francis,P.J., Hannum,G., Agarwal,A., Armbrecht,A.M.,
            Audo,I., Aung,T., Barile,G.R., Benchaboune,M., Bird,A.C.,
            Bishop,P.N., Branham,K.E., Brooks,M., Brucker,A.J., Cade,W.H.,
            Cain,M.S., Campochiaro,P.A., Chan,C.C., Cheng,C.Y., Chew,E.Y.,
            Chin,K.A., Chowers,I., Clayton,D.G., Cojocaru,R., Conley,Y.P.,
            Cornes,B.K., Daly,M.J., Dhillon,B., Edwards,A.O., Evangelou,E.,
            Fagerness,J., Ferreyra,H.A., Friedman,J.S., Geirsdottir,A.,
            George,R.J., Gieger,C., Gupta,N., Hagstrom,S.A., Harding,S.P.,
            Haritoglou,C., Heckenlively,J.R., Holz,F.G., Hughes,G.,
            Ioannidis,J.P., Ishibashi,T., Joseph,P., Jun,G., Kamatani,Y.,
            Katsanis,N., N Keilhauer,C., Khan,J.C., Kim,I.K., Kiyohara,Y.,
            Klein,B.E., Klein,R., Kovach,J.L., Kozak,I., Lee,C.J., Lee,K.E.,
            Lichtner,P., Lotery,A.J., Meitinger,T., Mitchell,P.,
            Mohand-Said,S., Moore,A.T., Morgan,D.J., Morrison,M.A., Myers,C.E.,
            Naj,A.C., Nakamura,Y., Okada,Y., Orlin,A., Ortube,M.C.,
            Othman,M.I., Pappas,C., Park,K.H., Pauer,G.J., Peachey,N.S.,
            Poch,O., Priya,R.R., Reynolds,R., Richardson,A.J., Ripp,R.,
            Rudolph,G., Ryu,E., Sahel,J.A., Schaumberg,D.A., Scholl,H.P.,
            Schwartz,S.G., Scott,W.K., Shahid,H., Sigurdsson,H., Silvestri,G.,
            Sivakumaran,T.A., Smith,R.T., Sobrin,L., Souied,E.H.,
            Stambolian,D.E., Stefansson,H., Sturgill-Short,G.M., Takahashi,A.,
            Tosakulwong,N., Truitt,B.J., Tsironi,E.E., Uitterlinden,A.G., van
            Duijn,C.M., Vijaya,L., Vingerling,J.R., Vithana,E.N., Webster,A.R.,
            Wichmann,H.E., Winkler,T.W., Wong,T.Y., Wright,A.F., Zelenika,D.,
            Zhang,M., Zhao,L., Zhang,K., Klein,M.L., Hageman,G.S.,
            Lathrop,G.M., Stefansson,K., Allikmets,R., Baird,P.N., Gorin,M.B.,
            Wang,J.J., Klaver,C.C., Seddon,J.M., Pericak-Vance,M.A.,
            Iyengar,S.K., Yates,J.R., Swaroop,A., Weber,B.H., Kubo,M.,
            Deangelis,M.M., Leveillard,T., Thorsteinsdottir,U., Haines,J.L.,
            Farrer,L.A., Heid,I.M. and Abecasis,G.R.
  CONSRTM   AMD Gene Consortium
  TITLE     Seven new loci associated with age-related macular degeneration
  JOURNAL   Nat Genet 45 (4), 433-439 (2013)
   PUBMED   23455636
REFERENCE   8  (bases 1 to 2230)
  AUTHORS   Kalsi,G., Kuo,P.H., Aliev,F., Alexander,J., McMichael,O.,
            Patterson,D.G., Walsh,D., Zhao,Z., Schuckit,M., Nurnberger,J. Jr.,
            Edenberg,H., Kramer,J., Hesselbrock,V., Tischfield,J.A.,
            Vladimirov,V., Prescott,C.A., Dick,D.M., Kendler,K.S. and
            Riley,B.P.
  TITLE     A systematic gene-based screen of chr4q22-q32 identifies
            association of a novel susceptibility gene, DKK2, with the
            quantitative trait of alcohol dependence symptom counts
  JOURNAL   Hum Mol Genet 19 (12), 2497-2506 (2010)
   PUBMED   20332099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock,
            Victor [added]; Tischfield, Jay A [added]]
REFERENCE   9  (bases 1 to 2230)
  AUTHORS   Hosgood,H.D. 3rd, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
            Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
            Smith,M. and Lan,Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2230)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK291098.1, BM830891.1, BC002633.2 and AC004067.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017918.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660803.243268.1, AK095936.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000394650.7/
                                                  ENSP00000378145.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-589               AK291098.1         42-630
            590-1217            BM830891.1         11-638
            1218-1227           BC002633.2         1203-1212
            1228-2230           AC004067.1         115241-116243
FEATURES             Location/Qualifiers
     source          1..2230
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..2230
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /note="mitochondrial calcium uniporter dominant negative
                     subunit beta"
                     /db_xref="GeneID:55013"
                     /db_xref="HGNC:HGNC:26076"
                     /db_xref="MIM:620702"
     exon            1..191
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..1103
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /note="coiled-coil domain-containing protein 109B;
                     mitochondrial calcium uniporter regulatory subunit MCUb;
                     coiled-coil domain containing 109B; mitochondrial calcium
                     uniporter dominant negative beta subunit"
                     /codon_start=1
                     /product="calcium uniporter regulatory subunit MCUb,
                     mitochondrial"
                     /protein_id="NP_060388.2"
                     /db_xref="CCDS:CCDS3683.2"
                     /db_xref="GeneID:55013"
                     /db_xref="HGNC:HGNC:26076"
                     /db_xref="MIM:620702"
                     /translation="MLQRGLWPWRTRLLPTPGTWRPARPWPLPPPPQVLRVKLCGNVK
                     YYQSHHYSTVVPPDEITVIYRHGLPLVTLTLPSRKERCQFVVKPMLSTVGSFLQDLQN
                     EDKGIKTAAIFTADGNMISASTLMDILLMNDFKLVINKIAYDVQCPKREKPSNEHTAE
                     MEHMKSLVHRLFTILHLEESQKKREHHLLEKIDHLKEQLQPLEQVKAGIEAHSEAKTS
                     GLLWAGLALLSIQGGALAWLTWWVYSWDIMEPVTYFITFANSMVFFAYFIVTRQDYTY
                     SAVKSRQFLQFFHKKSKQQHFDVQQYNKLKEDLAKAKESLKQARHSLCLQMQVEELNE
                     KN"
     exon            192..267
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /inference="alignment:Splign:2.1.0"
     exon            268..438
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /inference="alignment:Splign:2.1.0"
     exon            439..543
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /inference="alignment:Splign:2.1.0"
     exon            544..704
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /inference="alignment:Splign:2.1.0"
     exon            705..908
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1025
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..2230
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1206..1211
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /note="hexamer: ATTAAA"
     polyA_site      1227
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /note="major polyA site"
     regulatory      2130..2135
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /note="hexamer: AATAAA"
     polyA_site      2156
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
     regulatory      2208..2213
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
                     /note="hexamer: AATAAA"
     polyA_site      2230
                     /gene="MCUB"
                     /gene_synonym="CCDC109B"
ORIGIN      
        1 acagctcgga gccaccaggc gctgacgagg agcccggctg agggaggatg cgccgctgac
       61 gcctgcggga gccgcgcgcc tggggcggga ggatgctcca gaggggcctc tggccgtggc
      121 gcacgcggct gctgccgacc cctggcacct ggcgcccagc gcgcccgtgg ccgctgccgc
      181 ctccgcccca ggttttgcgt gtgaagctgt gtggaaatgt gaaatactac cagtcacacc
      241 attatagtac cgtggtgcca cctgatgaaa taacagttat ttatagacat ggccttccct
      301 tggtaacact taccttgcca tctagaaaag aacgttgtca attcgtagtc aaaccaatgt
      361 tgtcaacagt tggttcattc cttcaggacc tacaaaatga agataagggt atcaaaactg
      421 cagccatctt cacagcagat ggcaacatga tttcagcttc taccttgatg gatattttgc
      481 taatgaatga ttttaaactt gtcattaata aaatagcata tgatgtgcag tgtccaaaga
      541 gagaaaaacc aagtaatgag cacactgctg agatggaaca catgaaatct ttggttcaca
      601 gactatttac aatcttgcat ttagaagagt ctcagaaaaa gagagagcac catttactgg
      661 agaaaattga ccacctgaag gaacagctgc agccccttga acaggtgaaa gctggaatag
      721 aagctcattc ggaagccaaa accagtggac tcctgtgggc tggattggca ctgctgtcca
      781 ttcagggtgg ggcactggcc tggctcacgt ggtgggtgta ctcctgggat atcatggagc
      841 cagttacata cttcatcaca tttgcaaatt ctatggtctt ttttgcatac tttatagtca
      901 ctcgacagga ttatacttac tcagctgtta agagtaggca atttcttcag ttcttccaca
      961 agaaatcaaa gcaacagcac tttgatgtgc agcaatacaa caagttaaaa gaagaccttg
     1021 ctaaggctaa agaatccctg aaacaggcgc gtcattctct ctgtttgcaa atgcaagtag
     1081 aagaactcaa tgaaaagaat taatcttaca gttttaaatg tcgtcagatt ttccattatg
     1141 tattgatttt gcaacttagg atgtttttga gtcccatggt tcattttgat tgtttaatct
     1201 ttgttattaa attcttgtaa aacagaagta ttgtttgaag ttctcaactg agatttttac
     1261 tttttggatt tttatgactt gctaatgtta gaaagggctt gtatgcgtct atcaaagcaa
     1321 cggtggctgc tgttagctaa aaatccttgt cagcttgtcc cacgtttatt ctctatgtgg
     1381 aggtgaaagg gtctgtgctt ggcattcact tccattctta gacttaattt ggaatcatcc
     1441 ttttaaaaaa atcagagacc aggtcttgcc aaatcaaact cctgggctca agcaaccctc
     1501 ctgcctcaac ctcccacgga atcgtcttgt cattaacttc tttttttaat atgcagtagt
     1561 tgggagtaag atctttttat catttatcaa aaaggcataa atgttccacc aaccataaag
     1621 tatagttggt actttttgaa cttcaactga aacagtgtat ataaacgatt gcttttgaac
     1681 ctgcaaatca caagtttcag gtatcgaagc caaaacagtt aactttcttc agcctctggc
     1741 agattattaa caaaacagta ttattcagat tctatatcat attaataaga attgaacctt
     1801 gaaagtaaca tctgttattc tattaatgtg attgtgtgtg aatgggtctg atgactgttg
     1861 gactgtttgt aggaacttaa catggaagat gctgacagaa tcagattttg caggtgttca
     1921 acctatagtg gctaagaatt atgttttcta tttcatcctc agaatgccat acaacaattc
     1981 tggaatgctg atttttttta aagtaggaat taaagtcata cacaaaatgt ggtaattcat
     2041 atgtagatga aatattaaac atttaaatga ccgagtaaaa aacatctatc aattacacaa
     2101 atgaacaaga atgtgagtta gaaaaatgta ataaaatatg aatttcgaat attttattaa
     2161 gggatgattt aattcctgga tttcaaaaac ctttaaaaac atcaaacaat aaacttttat
     2221 aaaaaagtga
//
