LOCUS       NM_001330128            3205 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens MMS19 homolog, cytosolic iron-sulfur assembly
            component (MMS19), transcript variant 5, mRNA.
ACCESSION   NM_001330128 XM_017016520
VERSION     NM_001330128.2
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 3205)
  AUTHORS   van Karnebeek,C.D.M., Tarailo-Graovac,M., Leen,R., Meinsma,R.,
            Correard,S., Jansen-Meijer,J., Prykhozhij,S.V., Pena,I.A., Ban,K.,
            Schock,S., Saxena,V., Pras-Raves,M.L., Drogemoller,B.I.,
            Grootemaat,A.E., van der Wel,N.N., Dobritzsch,D., Roseboom,W.,
            Schomakers,B.V., Jaspers,Y.R.J., Zoetekouw,L., Roelofsen,J.,
            Ferreira,C.R., van der Lee,R., Ross,C.J., Kochan,J., McIntyre,R.L.,
            van Klinken,J.B., van Weeghel,M., Kramer,G., Weschke,B.,
            Labrune,P., Willemsen,M.A., Riva,D., Garavaglia,B., Moeschler,J.B.,
            Filiano,J.J., Ekker,M., Berman,J.N., Dyment,D., Vaz,F.M.,
            Wasserman,W.W., Houtkooper,R.H. and van Kuilenburg,A.B.P.
  TITLE     CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype
            caused by cytosolic Fe-S cluster protein assembly disorders
  JOURNAL   Genet Med 26 (6), 101104 (2024)
   PUBMED   38411040
  REMARK    GeneRIF: CIAO1 and MMS19 deficiency: A lethal neurodegenerative
            phenotype caused by cytosolic Fe-S cluster protein assembly
            disorders.
REFERENCE   2  (bases 1 to 3205)
  AUTHORS   Ren,D., Li,L., Wang,S. and Zuo,Y.
  TITLE     The c-MYC transcription factor conduces to resistance to cisplatin
            by regulating MMS19 in bladder cancer cells
  JOURNAL   Tissue Cell 82, 102096 (2023)
   PUBMED   37201439
  REMARK    GeneRIF: The c-MYC transcription factor conduces to resistance to
            cisplatin by regulating MMS19 in bladder cancer cells.
REFERENCE   3  (bases 1 to 3205)
  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   4  (bases 1 to 3205)
  AUTHORS   Kassube,S.A. and Thoma,N.H.
  TITLE     Structural insights into Fe-S protein biogenesis by the CIA
            targeting complex
  JOURNAL   Nat Struct Mol Biol 27 (8), 735-742 (2020)
   PUBMED   32632277
  REMARK    GeneRIF: Structural insights into Fe-S protein biogenesis by the
            CIA targeting complex.
REFERENCE   5  (bases 1 to 3205)
  AUTHORS   Horton,A.J., Brooker,J., Streitfeld,W.S., Flessa,M.E., Pillai,B.,
            Simpson,R., Clark,C.D., Gooz,M.B., Sutton,K.K., Foley,A.C. and
            Lee,K.H.
  TITLE     Nkx2-5 Second Heart Field Target Gene Ccdc117 Regulates DNA
            Metabolism and Proliferation
  JOURNAL   Sci Rep 9 (1), 1738 (2019)
   PUBMED   30742009
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3205)
  AUTHORS   Hatfield,M.D., Reis,A.M., Obeso,D., Cook,J.R., Thompson,D.M.,
            Rao,M., Friedberg,E.C. and Queimado,L.
  TITLE     Identification of MMS19 domains with distinct functions in NER and
            transcription
  JOURNAL   DNA Repair (Amst) 5 (8), 914-924 (2006)
   PUBMED   16797255
  REMARK    GeneRIF: MMS19 HEAT repeat domain is essential for MMS19 function
            in NER and transcription, while domains A and B, within MMS19
            N-terminus, modulate the balance between DNA repair and
            transcription.
REFERENCE   7  (bases 1 to 3205)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3205)
  AUTHORS   Wu,X., Li,H. and Chen,J.D.
  TITLE     The human homologue of the yeast DNA repair and TFIIH regulator
            MMS19 is an AF-1-specific coactivator of estrogen receptor
  JOURNAL   J Biol Chem 276 (26), 23962-23968 (2001)
   PUBMED   11279242
REFERENCE   9  (bases 1 to 3205)
  AUTHORS   Queimado,L., Rao,M., Schultz,R.A., Koonin,E.V., Aravind,L.,
            Nardo,T., Stefanini,M. and Friedberg,E.C.
  TITLE     Cloning the human and mouse MMS19 genes and functional
            complementation of a yeast mms19 deletion mutant
  JOURNAL   Nucleic Acids Res 29 (9), 1884-1891 (2001)
   PUBMED   11328871
  REMARK    GeneRIF: Cloning of the human MMS19 genes and functional
            complementation in Saccharomyces cerevisiae
REFERENCE   10 (bases 1 to 3205)
  AUTHORS   Seroz,T., Winkler,G.S., Auriol,J., Verhage,R.A., Vermeulen,W.,
            Smit,B., Brouwer,J., Eker,A.P., Weeda,G., Egly,J.M. and
            Hoeijmakers,J.H.
  TITLE     Cloning of a human homolog of the yeast nucleotide excision repair
            gene MMS19 and interaction with transcription repair factor TFIIH
            via the XPB and XPD helicases
  JOURNAL   Nucleic Acids Res 28 (22), 4506-4513 (2000)
   PUBMED   11071939
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC410036.1, CN260136.1, DA855951.1, DA482032.1, DA509912.1,
            AK027710.1 and BC009396.2.
            
            On Aug 14, 2020 this sequence version replaced NM_001330128.1.
            
            Transcript Variant: This variant (5) lacks two alternate, in-frame
            exons in the central coding region compared to variant 1. It
            encodes isoform 5, 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 :: SRR14038193.3862492.1,
                                           SRR14038194.4471622.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                DC410036.1         188-243
            57-240              CN260136.1         2-185
            241-241             DA855951.1         213-213
            242-249             CN260136.1         187-194
            250-827             DA482032.1         1-578
            828-936             DA509912.1         465-573
            937-1589            AK027710.1         758-1410
            1590-3205           BC009396.2         137-1752
FEATURES             Location/Qualifiers
     source          1..3205
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     gene            1..3205
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /note="MMS19 homolog, cytosolic iron-sulfur assembly
                     component"
                     /db_xref="GeneID:64210"
                     /db_xref="HGNC:HGNC:13824"
                     /db_xref="MIM:614777"
     exon            1..150
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..2837
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /note="isoform 5 is encoded by transcript variant 5;
                     homolog of yeast MMS19; MET18 homolog; MMS19-like (MET18
                     homolog, S. cerevisiae); MMS19 nucleotide excision repair
                     protein homolog; MMS19-like protein; MMS19 nucleotide
                     excision repair homolog; MMS19 cytosolic iron-sulfur
                     assembly component"
                     /codon_start=1
                     /product="MMS19 nucleotide excision repair protein homolog
                     isoform 5"
                     /protein_id="NP_001317057.1"
                     /db_xref="CCDS:CCDS81493.1"
                     /db_xref="GeneID:64210"
                     /db_xref="HGNC:HGNC:13824"
                     /db_xref="MIM:614777"
                     /translation="MAAAAAVEAAAPMGALWGLVHDFVVGQQEGPADQVAADVKSGNY
                     TVLQVVEALGSSLENPEPRTRARAIQLLSQVLLHCHTLLLEKEVVHLILFYENRLKDH
                     HLVIPSVLQGLKALSLCVALPPGLAVSVLKAIFQEVHVQSLPQVDRHTVYNIITNFMR
                     TREEELKSLGADFTFGFIQVMDGEKDPRNLLVAFRIVHDLISRDYSLGPFVEELFEVT
                     SCYFPIDFTPPPNDPHGIQREDLILSLRAVLASTPRFAEFLLPLLIEKVDSEVLSAKL
                     DSLQTLNACCAVYGQKELKDFLPSLWASIRRESSQRRTILEMLLGFLKLQQKWSYEDK
                     DQRPLNGFKDQLCSLVFMALTDPSTQLQLVGIRTLTVLGAQPDLLSYEDLELAVGHLY
                     RLSFLKEDSQSCRVAALEASGTLAALYPVAFSSHLVPKLAEELRVGESNLTNGDEPTQ
                     CSRHLCCLQALSAVSTHPSIVKETLPLLLQHLWQVNRGNMVAQSSDVIAVCQSLRQMA
                     EKCQQDPESCWYFHQTAIPCLLALAVQASMPEKEPSVLRKVLLEDEVLAAMVSVIGTA
                     TTHLSPELAAQSVTHIVPLFLDGNVSFLPENSFPSRFQPFQDGSSGQRRLIALLMAFV
                     CSLPRNVEIPQLNQLMRELLELSCCHSCPFSSTAAAKCFAGLLNKHPAGQQLDEFLQL
                     AVDKVEAGLGSGPCRSQAFTLLLWVTKALVLRYHPLSSCLTARLMGLLSDPELGPAAA
                     DGFSLLMSDCTDVLTRAGHAEVRIMFRQRFFTDNVPALVQGFHAAPQDVKPNYLKGLS
                     HVLNRLPKPVLLPELPTLLSLLLEALSCPDCVVQLSTLSCLQPLLLEAPQVMSLHVDT
                     LVTKFLNLSSSPSMAVRIAALQCMHALTRLPTPVLLPYKPQVIRALAKPLDDKKRLVR
                     KEAVSARGEWFLLGSPGS"
     exon            151..199
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            200..300
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            301..386
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            387..461
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            462..531
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            532..660
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            661..722
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            723..809
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            810..884
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            885..962
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1041
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1167
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1249
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1350
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1500
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1656
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1657..1756
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1757..1859
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1860..1928
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1929..2055
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2056..2156
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2157..2213
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2214..2400
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2401..2483
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2484..2648
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2649..2708
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2709..2809
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2810..3205
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3185..3190
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /note="hexamer: AATAAA"
     polyA_site      3205
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /note="major polyA site"
ORIGIN      
        1 accgcccata tcccctccca cggtctctag ttcgcgttat ggccgctgcc gcggctgtgg
       61 aggcggcggc gcctatgggt gccctatggg gcctcgtgca cgacttcgtc gtgggtcagc
      121 aagagggccc cgctgaccag gtggctgcag atgtgaaatc tggcaactat acagtgttac
      181 aagttgtgga agcccttggg tcctctctag agaatccaga accccgaact cgggcacgag
      241 caatccagct tttgtcacag gtgctactcc actgtcacac cttgctcctg gagaaggaag
      301 tggtacacct gatactgttc tatgagaacc ggctgaagga ccatcatctt gtgatcccat
      361 ctgtcctgca gggtttgaag gcacttagcc tgtgtgtggc cctgccccca gggctggctg
      421 tttctgtgct taaagccatc ttccaggaag tgcatgtaca gtccctgcca caggtggacc
      481 gacacacagt ctacaatatc atcaccaatt ttatgcgaac ccgggaagaa gagctaaaga
      541 gcctaggagc tgacttcacc tttggcttca tccaggtgat ggatggggaa aaggatcccc
      601 gtaatcttct ggtggccttc cgcatcgtcc atgacctcat ctccagggac tatagcctgg
      661 gaccctttgt ggaggagttg tttgaagtga catcctgtta tttccctatc gattttaccc
      721 ctccacctaa tgatccccat ggtatccaga gagaagacct catcctgagt cttcgcgctg
      781 tgctggcttc tacaccacga tttgctgagt ttctgctgcc cctgttgatt gagaaagtgg
      841 attctgaggt tctgagtgcc aagttggatt ctctacagac tctgaatgct tgctgtgctg
      901 tgtatggaca gaaggaactg aaggacttcc tccccagcct ttgggcttct atccgcagag
      961 agagcagcca gcggcggaca atccttgaaa tgctcctggg tttcttgaag ctgcagcaga
     1021 aatggagcta tgaagacaaa gatcaaaggc ctctgaatgg cttcaaggac cagctgtgct
     1081 cactggtatt catggctcta acagacccca gcacccagct tcagcttgtt ggcatccgta
     1141 cactgacagt cttgggtgcc cagccagatc tcctatctta tgaggacttg gagctggcag
     1201 tgggtcacct gtacagactg agcttcctga aggaggattc ccagagttgc agggtggcag
     1261 cactggaagc atcaggaacc ctggctgctc tctaccctgt ggccttcagc agccacctcg
     1321 tacccaagct cgctgaggag ctgcgtgtag gggagtcaaa tttgactaac ggagatgagc
     1381 ccacccaatg ctcccggcat ctgtgctgtc tgcaagcctt gtcagctgta tcaacacatc
     1441 ccagcatcgt caaggagaca ctgcctctgc tgctgcagca tctctggcaa gtgaacagag
     1501 ggaatatggt tgcacaatcc agtgacgtta ttgctgtctg tcagagcctc agacagatgg
     1561 cagaaaaatg tcagcaggac cctgagagtt gctggtattt ccaccagaca gctatacctt
     1621 gcctgcttgc cttggctgtg caggcctcta tgccagagaa ggagccctca gttctgagaa
     1681 aagtactatt ggaggatgag gtgttggctg ccatggtgtc tgtcattggc actgctacaa
     1741 cccacctgag ccctgagtta gctgcccaga gtgtgacaca cattgtgccc ctcttcttgg
     1801 atggcaacgt gtcctttctg cctgaaaaca gcttcccgag cagattccag ccattccagg
     1861 atggctcctc agggcagagg cggctgattg cactgcttat ggcctttgtc tgctccctgc
     1921 ctcgaaatgt ggaaatccct cagctgaacc aactcatgcg ggagcttttg gaactgagct
     1981 gctgccacag ctgccccttt tcttccaccg ctgctgccaa gtgctttgca ggactcctca
     2041 acaagcaccc tgcagggcag cagctggatg aattcctaca gctagctgtg gacaaagtgg
     2101 aggctggcct gggctctggg ccctgtcgta gtcaggcctt cactcttctt ctctgggtaa
     2161 caaaggccct agtgctcaga taccatcctc tcagctcctg ccttacagcc cggctcatgg
     2221 gcctcctgag tgacccagaa ttaggtccag cagcagctga tggcttctct ctgctcatgt
     2281 ctgactgcac tgatgtgctg actcgtgctg gccatgccga agtgcggatc atgttccgcc
     2341 agcggttctt cacagataat gtgcctgctt tggtccaggg cttccatgct gctccccaag
     2401 atgtgaagcc aaactacttg aagggtcttt ctcatgtact taacaggctg cccaagcctg
     2461 tactcttgcc agagctgccc acgcttcttt ccttgctgct ggaggccctg tcctgccctg
     2521 actgtgtggt gcagctctcc accctcagct gccttcagcc tcttctactg gaagcacccc
     2581 aagtcatgag tcttcacgtg gacaccctcg tcaccaagtt tctgaacctc agctctagcc
     2641 cttccatggc tgtccggatc gccgcactgc agtgcatgca tgctctcact cgcctgccca
     2701 cccctgtgct gctgccgtac aaaccacagg tgattcgggc cttagccaaa cccctggatg
     2761 acaagaagag actggtgcgc aaggaagcag tgtcagccag aggggagtgg tttctgttgg
     2821 ggagccctgg cagctgagcc ctcagtcctg gcctagactg ttctgacaat ctaacctggg
     2881 attactaact gttgagccat cttccccaaa gcagggaaac cactggtctc tgactgcctt
     2941 tcccacagac acagcacaaa tgctaggcct ctgttgcatg gctgtacaaa gaacataaga
     3001 gtccatattt ctagtggatt tgtaaaataa gtgtgtgtga gacacttgcg tttgaagaaa
     3061 gatctagggt cctgggtctc ttgcatttat atgtcagaaa aggggcgata tgctgctgag
     3121 gggtgagtgc atatgagtgt ggccctgagg accagggctg gcagatgttg tctacctgct
     3181 gaagaataaa gatttctttt ggtaa
//
