LOCUS       NM_001406823            3800 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens mutS homolog 6 (MSH6), transcript variant 36, mRNA.
ACCESSION   NM_001406823
VERSION     NM_001406823.1
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 3800)
  AUTHORS   Varol,A., Boulos,J.C., Jin,C., Klauck,S.M., Zhitkovich,A. and
            Efferth,T.
  TITLE     Inhibition of MSH6 augments the antineoplastic efficacy of
            cisplatin in non-small cell lung cancer as autophagy modulator
  JOURNAL   Chem Biol Interact 402, 111193 (2024)
   PUBMED   39168426
  REMARK    GeneRIF: Inhibition of MSH6 augments the antineoplastic efficacy of
            cisplatin in non-small cell lung cancer as autophagy modulator.
REFERENCE   2  (bases 1 to 3800)
  AUTHORS   Singh,S., Singh,N., Gupta,P.S.S., Panda,S.K., Dhamija,I.,
            Nathiya,D., Kumar,S. and Sharma,S.
  TITLE     Assessing the impact of MSH3 and MSH6 polymorphisms on lung cancer
            risk in North Indian patients undergoing platinum chemotherapy
            through molecular dynamics simulation
  JOURNAL   Sci Rep 14 (1), 16164 (2024)
   PUBMED   39003369
  REMARK    GeneRIF: Assessing the impact of MSH3 and MSH6 polymorphisms on
            lung cancer risk in North Indian patients undergoing platinum
            chemotherapy through molecular dynamics simulation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3800)
  AUTHORS   Ha,G.W., Lee,M.R., Ahn,A.R., Chung,M.J. and Kim,K.M.
  TITLE     Attenuated adenomatous polyposis with MSH6 variation: Two case
            reports
  JOURNAL   Medicine (Baltimore) 103 (27), e38791 (2024)
   PUBMED   38968511
  REMARK    GeneRIF: Attenuated adenomatous polyposis with MSH6 variation: Two
            case reports.
REFERENCE   4  (bases 1 to 3800)
  AUTHORS   Sharbati,F., Tabriz,H.M. and Nazar,E.
  TITLE     Assessing the role of MSH2 and MSH6 gene expression deficiency in
            prostate cancer progression, a cross-sectional study
  JOURNAL   Cancer Treat Res Commun 40, 100826 (2024)
   PUBMED   38870667
  REMARK    GeneRIF: Assessing the role of MSH2 and MSH6 gene expression
            deficiency in prostate cancer progression, a cross-sectional study.
REFERENCE   5  (bases 1 to 3800)
  AUTHORS   Miyaki,M., Konishi,M., Tanaka,K., Kikuchi-Yanoshita,R., Muraoka,M.,
            Yasuno,M., Igari,T., Koike,M., Chiba,M. and Mori,T.
  TITLE     Germline mutation of MSH6 as the cause of hereditary nonpolyposis
            colorectal cancer
  JOURNAL   Nat Genet 17 (3), 271-272 (1997)
   PUBMED   9354786
REFERENCE   6  (bases 1 to 3800)
  AUTHORS   Risinger,J.I., Umar,A., Boyd,J., Berchuck,A., Kunkel,T.A. and
            Barrett,J.C.
  TITLE     Mutation of MSH3 in endometrial cancer and evidence for its
            functional role in heteroduplex repair
  JOURNAL   Nat Genet 14 (1), 102-105 (1996)
   PUBMED   8782829
REFERENCE   7  (bases 1 to 3800)
  AUTHORS   Papadopoulos,N., Nicolaides,N.C., Liu,B., Parsons,R., Lengauer,C.,
            Palombo,F., D'Arrigo,A., Markowitz,S., Willson,J.K., Kinzler,K.W.
            et al.
  TITLE     Mutations of GTBP in genetically unstable cells
  JOURNAL   Science 268 (5219), 1915-1917 (1995)
   PUBMED   7604266
REFERENCE   8  (bases 1 to 3800)
  AUTHORS   Palombo,F., Gallinari,P., Iaccarino,I., Lettieri,T., Hughes,M.,
            D'Arrigo,A., Truong,O., Hsuan,J.J. and Jiricny,J.
  TITLE     GTBP, a 160-kilodalton protein essential for mismatch-binding
            activity in human cells
  JOURNAL   Science 268 (5219), 1912-1914 (1995)
   PUBMED   7604265
REFERENCE   9  (bases 1 to 3800)
  AUTHORS   Drummond,J.T., Li,G.M., Longley,M.J. and Modrich,P.
  TITLE     Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch
            repair to tumor cells
  JOURNAL   Science 268 (5219), 1909-1912 (1995)
   PUBMED   7604264
REFERENCE   10 (bases 1 to 3800)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301390
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006509.15.
            
            Summary: This gene encodes a member of the DNA mismatch repair MutS
            family. In E. coli, the MutS protein helps in the recognition of
            mismatched nucleotides prior to their repair. A highly conserved
            region of approximately 150 aa, called the Walker-A adenine
            nucleotide binding motif, exists in MutS homologs. The encoded
            protein heterodimerizes with MSH2 to form a mismatch recognition
            complex that functions as a bidirectional molecular switch that
            exchanges ADP and ATP as DNA mismatches are bound and dissociated.
            Mutations in this gene may be associated with hereditary
            nonpolyposis colon cancer, colorectal cancer, and endometrial
            cancer. Transcripts variants encoding different isoforms have been
            described. [provided by RefSeq, Jul 2013].
            
            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 :: SRR14372079.3292319.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                AC006509.15        33101-33154         c
            55-251              AC006509.15        25984-26180         c
            252-2796            AC006509.15        15952-18496         c
            2797-3062           AC006509.15        13422-13687         c
            3063-3180           AC006509.15        12080-12197         c
            3181-3270           AC006509.15        11400-11489         c
            3271-3425           AC006509.15        10749-10903         c
            3426-3625           AC006509.15        10456-10655         c
            3626-3800           AC006509.15        10154-10328         c
FEATURES             Location/Qualifiers
     source          1..3800
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..3800
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="mutS homolog 6"
                     /db_xref="GeneID:2956"
                     /db_xref="HGNC:HGNC:7329"
                     /db_xref="MIM:600678"
     exon            1..54
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            55..251
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            252..2796
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     CDS             531..3707
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="isoform 3 is encoded by transcript variant 36; G/T
                     mismatch-binding protein; sperm-associated protein; DNA
                     mismatch repair protein Msh6; mutS-alpha 160 kDa subunit;
                     mutS protein homolog 6; mutS-like protein 6"
                     /codon_start=1
                     /product="DNA mismatch repair protein Msh6 isoform 3"
                     /protein_id="NP_001393752.1"
                     /db_xref="GeneID:2956"
                     /db_xref="HGNC:HGNC:7329"
                     /db_xref="MIM:600678"
                     /translation="MVTGNGSLKRKSSRKETPSATKQATSISSETKNTLRAFSAPQNS
                     ESQAHVSGGGDDSSRPTVWYHETLEWLKEEKRRDEHRRRPDHPDFDASTLYVPEDFLN
                     SCTPGMRKWWQIKSQNFDLVICYKVGKFYELYHMDALIGVSELGLVFMKGNWAHSGFP
                     EIAFGRYSDSLVQKGYKVARVEQTETPEMMEARCRKMAHISKYDRVVRREICRIITKG
                     TQTYSVLEGDPSENYSKYLLSLKEKEEDSSGHTRAYGVCFVDTSLGKFFIGQFSDDRH
                     CSRFRTLVAHYPPVQVLFEKGNLSKETKTILKSSLSCSLQEGLIPGSQFWDASKTLRT
                     LLEEEYFREKLSDGIGVMLPQVLKGMTSESDSIGLTPGEKSELALSALGGCVFYLKKC
                     LIDQELLSMANFEEYIPLDSDTVSTTRSGAIFTKAYQRMVLDAVTLNNLEIFLNGTNG
                     STEGTLLERVDTCHTPFGKRLLKQWLCAPLCNHYAINDRLDAIEDLMVVPDKISEVVE
                     LLKKLPDLERLLSKIHNVGSPLKSQNHPDSRAIMYEETTYSKKKIIDFLSALEGFKVM
                     CKIIGIMEEVADGFKSKILKQVISLQTKNPEGRFPDLTVELNRWDTAFDHEKARKTGL
                     ITPKAGFDSDYDQALADIRENEQSLLEYLEKQRNRIGCRTIVYWGIGRNRYQLEIPEN
                     FTTRNLPEEYELKSTKKGCKRYWTKTIEKKLANLINAEERRDVSLKDCMRRLFYNFDK
                     NYKDWQSAVECIAVLDVLLCLANYSRGGDGPMCRPVILLPEDTPPFLELKGSRHPCIT
                     KTFFGDDFIPNDILIGCEEEEQENGKAYCVLVTGPNMGGKSTLMRQAGLLAVMAQMGC
                     YVPAEVCRLTPIDRVFTRLGASDRIMSGESTFFVELSETASILMHATAHSLVLVDELG
                     RGTATFDGTAIANAVVKELAETIKCRTLFSTHYHSLVEDYSQNVAVRLGHMACMVENE
                     CEDPSQETITFLYKFIKGACPKSYGFNAARLANLPEEVIQKGHRKAREFEKMNQSLRL
                     FREVCLASERSTVDAEAVHKLLTLIKEL"
     exon            2797..3062
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3063..3180
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3181..3270
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3271..3425
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3426..3625
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3626..3800
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3776..3781
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="hexamer: AATAAA"
     polyA_site      3800
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="major polyA site"
ORIGIN      
        1 gagagtccgg tggtgtgggg tgcgaaagga ggttcctcgg ccggcgcgga gatattgtga
       61 cttctcacca ggagatttgg tttgggccaa gatggagggt tacccctggt ggccttgtct
      121 ggtttacaac cacccctttg atggaacatt catccgcgag aaagggaaat cagtccgtgt
      181 tcatgtacag ttttttgatg acagcccaac aaggggctgg gttagcaaaa ggcttttaaa
      241 gccatataca ggtaggcaca acttacgtaa cagataagag tgaagaagat aatgaaattg
      301 agagtgaaga ggaagtacag cctaagacac aaggatctag gcgaagtagc cgccaaataa
      361 aaaaacgaag ggtcatatca gattctgaga gtgacattgg tggctctgat gtggaattta
      421 agccagacac taaggaggaa ggaagcagtg atgaaataag cagtggagtg ggggatagtg
      481 agagtgaagg cctgaacagc cctgtcaaag ttgctcgaaa gcggaagaga atggtgactg
      541 gaaatggctc tcttaaaagg aaaagctcta ggaaggaaac gccctcagcc accaaacaag
      601 caactagcat ttcatcagaa accaagaata ctttgagagc tttctctgcc cctcaaaatt
      661 ctgaatccca agcccacgtt agtggaggtg gtgatgacag tagtcgccct actgtttggt
      721 atcatgaaac tttagaatgg cttaaggagg aaaagagaag agatgagcac aggaggaggc
      781 ctgatcaccc cgattttgat gcatctacac tctatgtgcc tgaggatttc ctcaattctt
      841 gtactcctgg gatgaggaag tggtggcaga ttaagtctca gaactttgat cttgtcatct
      901 gttacaaggt ggggaaattt tatgagctgt accacatgga tgctcttatt ggagtcagtg
      961 aactggggct ggtattcatg aaaggcaact gggcccattc tggctttcct gaaattgcat
     1021 ttggccgtta ttcagattcc ctggtgcaga agggctataa agtagcacga gtggaacaga
     1081 ctgagactcc agaaatgatg gaggcacgat gtagaaagat ggcacatata tccaagtatg
     1141 atagagtggt gaggagggag atctgtagga tcattaccaa gggtacacag acttacagtg
     1201 tgctggaagg tgatccctct gagaactaca gtaagtatct tcttagcctc aaagaaaaag
     1261 aggaagattc ttctggccat actcgtgcat atggtgtgtg ctttgttgat acttcactgg
     1321 gaaagttttt cataggtcag ttttcagatg atcgccattg ttcgagattt aggactctag
     1381 tggcacacta tcccccagta caagttttat ttgaaaaagg aaatctctca aaggaaacta
     1441 aaacaattct aaagagttca ttgtcctgtt ctcttcagga aggtctgata cccggctccc
     1501 agttttggga tgcatccaaa actttgagaa ctctccttga ggaagaatat tttagggaaa
     1561 agctaagtga tggcattggg gtgatgttac cccaggtgct taaaggtatg acttcagagt
     1621 ctgattccat tgggttgaca ccaggagaga aaagtgaatt ggccctctct gctctaggtg
     1681 gttgtgtctt ctacctcaaa aaatgcctta ttgatcagga gcttttatca atggctaatt
     1741 ttgaagaata tattcccttg gattctgaca cagtcagcac tacaagatct ggtgctatct
     1801 tcaccaaagc ctatcaacga atggtgctag atgcagtgac attaaacaac ttggagattt
     1861 ttctgaatgg aacaaatggt tctactgaag gaaccctact agagagggtt gatacttgcc
     1921 atactccttt tggtaagcgg ctcctaaagc aatggctttg tgccccactc tgtaaccatt
     1981 atgctattaa tgatcgtcta gatgccatag aagacctcat ggttgtgcct gacaaaatct
     2041 ccgaagttgt agagcttcta aagaagcttc cagatcttga gaggctactc agtaaaattc
     2101 ataatgttgg gtctcccctg aagagtcaga accacccaga cagcagggct ataatgtatg
     2161 aagaaactac atacagcaag aagaagatta ttgattttct ttctgctctg gaaggattca
     2221 aagtaatgtg taaaattata gggatcatgg aagaagttgc tgatggtttt aagtctaaaa
     2281 tccttaagca ggtcatctct ctgcagacaa aaaatcctga aggtcgtttt cctgatttga
     2341 ctgtagaatt gaaccgatgg gatacagcct ttgaccatga aaaggctcga aagactggac
     2401 ttattactcc caaagcaggc tttgactctg attatgacca agctcttgct gacataagag
     2461 aaaatgaaca gagcctcctg gaatacctag agaaacagcg caacagaatt ggctgtagga
     2521 ccatagtcta ttgggggatt ggtaggaacc gttaccagct ggaaattcct gagaatttca
     2581 ccactcgcaa tttgccagaa gaatacgagt tgaaatctac caagaagggc tgtaaacgat
     2641 actggaccaa aactattgaa aagaagttgg ctaatctcat aaatgctgaa gaacggaggg
     2701 atgtatcatt gaaggactgc atgcggcgac tgttctataa ctttgataaa aattacaagg
     2761 actggcagtc tgctgtagag tgtatcgcag tgttggatgt tttactgtgc ctggctaact
     2821 atagtcgagg gggtgatggt cctatgtgtc gcccagtaat tctgttgccg gaagataccc
     2881 cccccttctt agagcttaaa ggatcacgcc atccttgcat tacgaagact ttttttggag
     2941 atgattttat tcctaatgac attctaatag gctgtgagga agaggagcag gaaaatggca
     3001 aagcctattg tgtgcttgtt actggaccaa atatgggggg caagtctacg cttatgagac
     3061 aggctggctt attagctgta atggcccaga tgggttgtta cgtccctgct gaagtgtgca
     3121 ggctcacacc aattgataga gtgtttacta gacttggtgc ctcagacaga ataatgtcag
     3181 gtgaaagtac attttttgtt gaattaagtg aaactgccag catactcatg catgcaacag
     3241 cacattctct ggtgcttgtg gatgaattag gaagaggtac tgcaacattt gatgggacgg
     3301 caatagcaaa tgcagttgtt aaagaacttg ctgagactat aaaatgtcgt acattatttt
     3361 caactcacta ccattcatta gtagaagatt attctcaaaa tgttgctgtg cgcctaggac
     3421 atatggcatg catggtagaa aatgaatgtg aagaccccag ccaggagact attacgttcc
     3481 tctataaatt cattaaggga gcttgtccta aaagctatgg ctttaatgca gcaaggcttg
     3541 ctaatctccc agaggaagtt attcaaaagg gacatagaaa agcaagagaa tttgagaaga
     3601 tgaatcagtc actacgatta tttcgggaag tttgcctggc tagtgaaagg tcaactgtag
     3661 atgctgaagc tgtccataaa ttgctgactt tgattaagga attatagact gactacattg
     3721 gaagctttga gttgacttct gacaaaggtg gtaaattcag acaacattat gatctaataa
     3781 actttatttt ttaaaaatga
//
