LOCUS       NM_001351358            3472 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens MMS19 homolog, cytosolic iron-sulfur assembly
            component (MMS19), transcript variant 8, mRNA.
ACCESSION   NM_001351358 XM_017016526
VERSION     NM_001351358.2
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 3472)
  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 3472)
  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 3472)
  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 3472)
  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 3472)
  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 3472)
  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 3472)
  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 3472)
  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 3472)
  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 3472)
  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
            DC382327.1, DA413922.1, AF319947.1, DB199128.1 and BC009396.2.
            
            On Aug 13, 2020 this sequence version replaced NM_001351358.1.
            
            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 :: SRR14038194.51841.1,
                                           SRR1803611.175494.1 [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
            1-35                DC382327.1         26-60
            36-191              DA413922.1         49-204
            192-192             DC382327.1         266-266
            193-496             DA413922.1         206-509
            497-678             AF319947.1         581-762
            679-1245            DB199128.1         1-567
            1246-2584           AF319947.1         1308-2646
            2585-3472           BC009396.2         865-1752
FEATURES             Location/Qualifiers
     source          1..3472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.1"
     gene            1..3472
                     /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"
     exon            151..251
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            252..337
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            338..412
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            413..482
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            483..611
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            612..673
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            674..760
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            761..835
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            836..913
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            914..1074
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1075..1229
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     CDS             1104..3104
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /note="isoform 8 is encoded by transcript variant 8;
                     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 8"
                     /protein_id="NP_001338287.1"
                     /db_xref="GeneID:64210"
                     /db_xref="HGNC:HGNC:13824"
                     /db_xref="MIM:614777"
                     /translation="MKLVWPSAKLLQAAAGASARACDSVTSNVLPLLLEQFHKHSQSS
                     QRRTILEMLLGFLKLQQKWSYEDKDQRPLNGFKDQLCSLVFMALTDPSTQLQLVGIRT
                     LTVLGAQPDLLSYEDLELAVGHLYRLSFLKEDSQSCRVAALEASGTLAALYPVAFSSH
                     LVPKLAEELRVGESNLTNGDEPTQCSRHLCCLQALSAVSTHPSIVKETLPLLLQHLWQ
                     VNRGNMVAQSSDVIAVCQSLRQMAEKCQQDPESCWYFHQTAIPCLLALAVQASMPEKE
                     PSVLRKVLLEDEVLAAMVSVIGTATTHLSPELAAQSVTHIVPLFLDGNVSFLPENSFP
                     SRFQPFQDGSSGQRRLIALLMAFVCSLPRNVEIPQLNQLMRELLELSCCHSCPFSSTA
                     AAKCFAGLLNKHPAGQQLDEFLQLAVDKVEAGLGSGPCRSQAFTLLLWVTKALVLRYH
                     PLSSCLTARLMGLLSDPELGPAAADGFSLLMSDCTDVLTRAGHAEVRIMFRQRFFTDN
                     VPALVQGFHAAPQDVKPNYLKGLSHVLNRLPKPVLLPELPTLLSLLLEALSCPDCVVQ
                     LSTLSCLQPLLLEAPQVMSLHVDTLVTKFLNLSSSPSMAVRIAALQCMHALTRLPTPV
                     LLPYKPQVIRALAKPLDDKKRLVRKEAVSARGEWFLLGSPGS"
     exon            1230..1308
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1434
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1516
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1517..1617
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1767
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1768..1923
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            1924..2023
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2024..2126
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2127..2195
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2196..2322
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2323..2423
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2424..2480
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2481..2667
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2668..2750
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2751..2915
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2916..2975
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            2976..3076
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     exon            3077..3472
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3452..3457
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MMS19"
                     /gene_synonym="CIAO4; hMMS19; MET18; MMS19L"
                     /note="hexamer: AATAAA"
     polyA_site      3472
                     /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 gtcctctcta gagaatccag aaccccgaac
      181 tcgggcacga gcaatccagc ttttgtcaca ggtgctactc cactgtcaca ccttgctcct
      241 ggagaaggaa gtggtacacc tgatactgtt ctatgagaac cggctgaagg accatcatct
      301 tgtgatccca tctgtcctgc agggtttgaa ggcacttagc ctgtgtgtgg ccctgccccc
      361 agggctggct gtttctgtgc ttaaagccat cttccaggaa gtgcatgtac agtccctgcc
      421 acaggtggac cgacacacag tctacaatat catcaccaat tttatgcgaa cccgggaaga
      481 agagctaaag agcctaggag ctgacttcac ctttggcttc atccaggtga tggatgggga
      541 aaaggatccc cgtaatcttc tggtggcctt ccgcatcgtc catgacctca tctccaggga
      601 ctatagcctg ggaccctttg tggaggagtt gtttgaagtg acatcctgtt atttccctat
      661 cgattttacc cctccaccta atgatcccca tggtatccag agagaagacc tcatcctgag
      721 tcttcgcgct gtgctggctt ctacaccacg atttgctgag tttctgctgc ccctgttgat
      781 tgagaaagtg gattctgagg ttctgagtgc caagttggat tctctacaga ctctgaatgc
      841 ttgctgtgct gtgtatggac agaaggaact gaaggacttc ctccccagcc tttgggcttc
      901 tatccgcaga gagccatggg atccctccct gacaggtgtt ccagacggca agtgagcggg
      961 tggaggcaga gggcctggcg gccctccact ccctgactgc gtgtttgtct cgctctgtgc
     1021 tgagggctga tgctgaggac ctccttgact ccttccttag caacattcta caggactgca
     1081 ggcaccacct gtgtgaaccg gacatgaaac tggtgtggcc tagtgccaag ctgttgcagg
     1141 cagctgcagg tgcatctgcc cgggcctgtg actctgtcac cagcaatgta ctgcctttac
     1201 tgctggaaca gttccacaag cacagtcaga gcagccagcg gcggacaatc cttgaaatgc
     1261 tcctgggttt cttgaagctg cagcagaaat ggagctatga agacaaagat caaaggcctc
     1321 tgaatggctt caaggaccag ctgtgctcac tggtattcat ggctctaaca gaccccagca
     1381 cccagcttca gcttgttggc atccgtacac tgacagtctt gggtgcccag ccagatctcc
     1441 tatcttatga ggacttggag ctggcagtgg gtcacctgta cagactgagc ttcctgaagg
     1501 aggattccca gagttgcagg gtggcagcac tggaagcatc aggaaccctg gctgctctct
     1561 accctgtggc cttcagcagc cacctcgtac ccaagctcgc tgaggagctg cgtgtagggg
     1621 agtcaaattt gactaacgga gatgagccca cccaatgctc ccggcatctg tgctgtctgc
     1681 aagccttgtc agctgtatca acacatccca gcatcgtcaa ggagacactg cctctgctgc
     1741 tgcagcatct ctggcaagtg aacagaggga atatggttgc acaatccagt gacgttattg
     1801 ctgtctgtca gagcctcaga cagatggcag aaaaatgtca gcaggaccct gagagttgct
     1861 ggtatttcca ccagacagct ataccttgcc tgcttgcctt ggctgtgcag gcctctatgc
     1921 cagagaagga gccctcagtt ctgagaaaag tactattgga ggatgaggtg ttggctgcca
     1981 tggtgtctgt cattggcact gctacaaccc acctgagccc tgagttagct gcccagagtg
     2041 tgacacacat tgtgcccctc ttcttggatg gcaacgtgtc ctttctgcct gaaaacagct
     2101 tcccgagcag attccagcca ttccaggatg gctcctcagg gcagaggcgg ctgattgcac
     2161 tgcttatggc ctttgtctgc tccctgcctc gaaatgtgga aatccctcag ctgaaccaac
     2221 tcatgcggga gcttttggaa ctgagctgct gccacagctg ccccttttct tccaccgctg
     2281 ctgccaagtg ctttgcagga ctcctcaaca agcaccctgc agggcagcag ctggatgaat
     2341 tcctacagct agctgtggac aaagtggagg ctggcctggg ctctgggccc tgtcgtagtc
     2401 aggccttcac tcttcttctc tgggtaacaa aggccctagt gctcagatac catcctctca
     2461 gctcctgcct tacagcccgg ctcatgggcc tcctgagtga cccagaatta ggtccagcag
     2521 cagctgatgg cttctctctg ctcatgtctg actgcactga tgtgctgact cgtgctggcc
     2581 atgccgaagt gcggatcatg ttccgccagc ggttcttcac agataatgtg cctgctttgg
     2641 tccagggctt ccatgctgct ccccaagatg tgaagccaaa ctacttgaag ggtctttctc
     2701 atgtacttaa caggctgccc aagcctgtac tcttgccaga gctgcccacg cttctttcct
     2761 tgctgctgga ggccctgtcc tgccctgact gtgtggtgca gctctccacc ctcagctgcc
     2821 ttcagcctct tctactggaa gcaccccaag tcatgagtct tcacgtggac accctcgtca
     2881 ccaagtttct gaacctcagc tctagccctt ccatggctgt ccggatcgcc gcactgcagt
     2941 gcatgcatgc tctcactcgc ctgcccaccc ctgtgctgct gccgtacaaa ccacaggtga
     3001 ttcgggcctt agccaaaccc ctggatgaca agaagagact ggtgcgcaag gaagcagtgt
     3061 cagccagagg ggagtggttt ctgttgggga gccctggcag ctgagccctc agtcctggcc
     3121 tagactgttc tgacaatcta acctgggatt actaactgtt gagccatctt ccccaaagca
     3181 gggaaaccac tggtctctga ctgcctttcc cacagacaca gcacaaatgc taggcctctg
     3241 ttgcatggct gtacaaagaa cataagagtc catatttcta gtggatttgt aaaataagtg
     3301 tgtgtgagac acttgcgttt gaagaaagat ctagggtcct gggtctcttg catttatatg
     3361 tcagaaaagg ggcgatatgc tgctgagggg tgagtgcata tgagtgtggc cctgaggacc
     3421 agggctggca gatgttgtct acctgctgaa gaataaagat ttcttttggt aa
//
