LOCUS       NM_000179               4265 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens mutS homolog 6 (MSH6), transcript variant 1, mRNA.
ACCESSION   NM_000179
VERSION     NM_000179.3
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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 BC071594.1 and U54777.2.
            
            On Nov 27, 2019 this sequence version replaced NM_000179.2.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest protein (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 :: U28946.1, SRR11853561.15911.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000234420.11/ ENSP00000234420.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                BC071594.1         67-85
            20-4263             U54777.2           1-4244
            4264-4265           BC071594.1         4160-4161
FEATURES             Location/Qualifiers
     source          1..4265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.3"
     gene            1..4265
                     /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..349
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..4172
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="isoform 1 is encoded by transcript variant 1; 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 1"
                     /protein_id="NP_000170.1"
                     /db_xref="CCDS:CCDS1836.1"
                     /db_xref="GeneID:2956"
                     /db_xref="HGNC:HGNC:7329"
                     /db_xref="MIM:600678"
                     /translation="MSRQSTLYSFFPKSPALSDANKASARASREGGRAAAAPGASPSP
                     GGDAAWSEAGPGPRPLARSASPPKAKNLNGGLRRSVAPAAPTSCDFSPGDLVWAKMEG
                     YPWWPCLVYNHPFDGTFIREKGKSVRVHVQFFDDSPTRGWVSKRLLKPYTGSKSKEAQ
                     KGGHFYSAKPEILRAMQRADEALNKDKIKRLELAVCDEPSEPEEEEEMEVGTTYVTDK
                     SEEDNEIESEEEVQPKTQGSRRSSRQIKKRRVISDSESDIGGSDVEFKPDTKEEGSSD
                     EISSGVGDSESEGLNSPVKVARKRKRMVTGNGSLKRKSSRKETPSATKQATSISSETK
                     NTLRAFSAPQNSESQAHVSGGGDDSSRPTVWYHETLEWLKEEKRRDEHRRRPDHPDFD
                     ASTLYVPEDFLNSCTPGMRKWWQIKSQNFDLVICYKVGKFYELYHMDALIGVSELGLV
                     FMKGNWAHSGFPEIAFGRYSDSLVQKGYKVARVEQTETPEMMEARCRKMAHISKYDRV
                     VRREICRIITKGTQTYSVLEGDPSENYSKYLLSLKEKEEDSSGHTRAYGVCFVDTSLG
                     KFFIGQFSDDRHCSRFRTLVAHYPPVQVLFEKGNLSKETKTILKSSLSCSLQEGLIPG
                     SQFWDASKTLRTLLEEEYFREKLSDGIGVMLPQVLKGMTSESDSIGLTPGEKSELALS
                     ALGGCVFYLKKCLIDQELLSMANFEEYIPLDSDTVSTTRSGAIFTKAYQRMVLDAVTL
                     NNLEIFLNGTNGSTEGTLLERVDTCHTPFGKRLLKQWLCAPLCNHYAINDRLDAIEDL
                     MVVPDKISEVVELLKKLPDLERLLSKIHNVGSPLKSQNHPDSRAIMYEETTYSKKKII
                     DFLSALEGFKVMCKIIGIMEEVADGFKSKILKQVISLQTKNPEGRFPDLTVELNRWDT
                     AFDHEKARKTGLITPKAGFDSDYDQALADIRENEQSLLEYLEKQRNRIGCRTIVYWGI
                     GRNRYQLEIPENFTTRNLPEEYELKSTKKGCKRYWTKTIEKKLANLINAEERRDVSLK
                     DCMRRLFYNFDKNYKDWQSAVECIAVLDVLLCLANYSRGGDGPMCRPVILLPEDTPPF
                     LELKGSRHPCITKTFFGDDFIPNDILIGCEEEEQENGKAYCVLVTGPNMGGKSTLMRQ
                     AGLLAVMAQMGCYVPAEVCRLTPIDRVFTRLGASDRIMSGESTFFVELSETASILMHA
                     TAHSLVLVDELGRGTATFDGTAIANAVVKELAETIKCRTLFSTHYHSLVEDYSQNVAV
                     RLGHMACMVENECEDPSQETITFLYKFIKGACPKSYGFNAARLANLPEEVIQKGHRKA
                     REFEKMNQSLRLFREVCLASERSTVDAEAVHKLLTLIKEL"
     exon            350..546
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            547..716
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            717..3261
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3262..3527
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3528..3645
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3646..3735
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3736..3890
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            3891..4090
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     exon            4091..4265
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4241..4246
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="hexamer: AATAAA"
     polyA_site      4265
                     /gene="MSH6"
                     /gene_synonym="GTBP; GTMBP; HNPCC5; HSAP; LYNCH5; MMRCS3;
                     MSH-6; p160"
                     /note="major polyA site"
ORIGIN      
        1 agatttcccg ccagcaggag ccgcgcggta gatgcggtgc ttttaggagc tccgtccgac
       61 agaacggttg ggccttgccg gctgtcggta tgtcgcgaca gagcaccctg tacagcttct
      121 tccccaagtc tccggcgctg agtgatgcca acaaggcctc ggccagggcc tcacgcgaag
      181 gcggccgtgc cgccgctgcc cccggggcct ctccttcccc aggcggggat gcggcctgga
      241 gcgaggctgg gcctgggccc aggcccttgg cgcgctccgc gtcaccgccc aaggcgaaga
      301 acctcaacgg agggctgcgg agatcggtag cgcctgctgc ccccaccagt tgtgacttct
      361 caccaggaga tttggtttgg gccaagatgg agggttaccc ctggtggcct tgtctggttt
      421 acaaccaccc ctttgatgga acattcatcc gcgagaaagg gaaatcagtc cgtgttcatg
      481 tacagttttt tgatgacagc ccaacaaggg gctgggttag caaaaggctt ttaaagccat
      541 atacaggttc aaaatcaaag gaagcccaga agggaggtca tttttacagt gcaaagcctg
      601 aaatactgag agcaatgcaa cgtgcagatg aagccttaaa taaagacaag attaagaggc
      661 ttgaattggc agtttgtgat gagccctcag agccagaaga ggaagaagag atggaggtag
      721 gcacaactta cgtaacagat aagagtgaag aagataatga aattgagagt gaagaggaag
      781 tacagcctaa gacacaagga tctaggcgaa gtagccgcca aataaaaaaa cgaagggtca
      841 tatcagattc tgagagtgac attggtggct ctgatgtgga atttaagcca gacactaagg
      901 aggaaggaag cagtgatgaa ataagcagtg gagtggggga tagtgagagt gaaggcctga
      961 acagccctgt caaagttgct cgaaagcgga agagaatggt gactggaaat ggctctctta
     1021 aaaggaaaag ctctaggaag gaaacgccct cagccaccaa acaagcaact agcatttcat
     1081 cagaaaccaa gaatactttg agagctttct ctgcccctca aaattctgaa tcccaagccc
     1141 acgttagtgg aggtggtgat gacagtagtc gccctactgt ttggtatcat gaaactttag
     1201 aatggcttaa ggaggaaaag agaagagatg agcacaggag gaggcctgat caccccgatt
     1261 ttgatgcatc tacactctat gtgcctgagg atttcctcaa ttcttgtact cctgggatga
     1321 ggaagtggtg gcagattaag tctcagaact ttgatcttgt catctgttac aaggtgggga
     1381 aattttatga gctgtaccac atggatgctc ttattggagt cagtgaactg gggctggtat
     1441 tcatgaaagg caactgggcc cattctggct ttcctgaaat tgcatttggc cgttattcag
     1501 attccctggt gcagaagggc tataaagtag cacgagtgga acagactgag actccagaaa
     1561 tgatggaggc acgatgtaga aagatggcac atatatccaa gtatgataga gtggtgagga
     1621 gggagatctg taggatcatt accaagggta cacagactta cagtgtgctg gaaggtgatc
     1681 cctctgagaa ctacagtaag tatcttctta gcctcaaaga aaaagaggaa gattcttctg
     1741 gccatactcg tgcatatggt gtgtgctttg ttgatacttc actgggaaag tttttcatag
     1801 gtcagttttc agatgatcgc cattgttcga gatttaggac tctagtggca cactatcccc
     1861 cagtacaagt tttatttgaa aaaggaaatc tctcaaagga aactaaaaca attctaaaga
     1921 gttcattgtc ctgttctctt caggaaggtc tgatacccgg ctcccagttt tgggatgcat
     1981 ccaaaacttt gagaactctc cttgaggaag aatattttag ggaaaagcta agtgatggca
     2041 ttggggtgat gttaccccag gtgcttaaag gtatgacttc agagtctgat tccattgggt
     2101 tgacaccagg agagaaaagt gaattggccc tctctgctct aggtggttgt gtcttctacc
     2161 tcaaaaaatg ccttattgat caggagcttt tatcaatggc taattttgaa gaatatattc
     2221 ccttggattc tgacacagtc agcactacaa gatctggtgc tatcttcacc aaagcctatc
     2281 aacgaatggt gctagatgca gtgacattaa acaacttgga gatttttctg aatggaacaa
     2341 atggttctac tgaaggaacc ctactagaga gggttgatac ttgccatact ccttttggta
     2401 agcggctcct aaagcaatgg ctttgtgccc cactctgtaa ccattatgct attaatgatc
     2461 gtctagatgc catagaagac ctcatggttg tgcctgacaa aatctccgaa gttgtagagc
     2521 ttctaaagaa gcttccagat cttgagaggc tactcagtaa aattcataat gttgggtctc
     2581 ccctgaagag tcagaaccac ccagacagca gggctataat gtatgaagaa actacataca
     2641 gcaagaagaa gattattgat tttctttctg ctctggaagg attcaaagta atgtgtaaaa
     2701 ttatagggat catggaagaa gttgctgatg gttttaagtc taaaatcctt aagcaggtca
     2761 tctctctgca gacaaaaaat cctgaaggtc gttttcctga tttgactgta gaattgaacc
     2821 gatgggatac agcctttgac catgaaaagg ctcgaaagac tggacttatt actcccaaag
     2881 caggctttga ctctgattat gaccaagctc ttgctgacat aagagaaaat gaacagagcc
     2941 tcctggaata cctagagaaa cagcgcaaca gaattggctg taggaccata gtctattggg
     3001 ggattggtag gaaccgttac cagctggaaa ttcctgagaa tttcaccact cgcaatttgc
     3061 cagaagaata cgagttgaaa tctaccaaga agggctgtaa acgatactgg accaaaacta
     3121 ttgaaaagaa gttggctaat ctcataaatg ctgaagaacg gagggatgta tcattgaagg
     3181 actgcatgcg gcgactgttc tataactttg ataaaaatta caaggactgg cagtctgctg
     3241 tagagtgtat cgcagtgttg gatgttttac tgtgcctggc taactatagt cgagggggtg
     3301 atggtcctat gtgtcgccca gtaattctgt tgccggaaga tacccccccc ttcttagagc
     3361 ttaaaggatc acgccatcct tgcattacga agactttttt tggagatgat tttattccta
     3421 atgacattct aataggctgt gaggaagagg agcaggaaaa tggcaaagcc tattgtgtgc
     3481 ttgttactgg accaaatatg gggggcaagt ctacgcttat gagacaggct ggcttattag
     3541 ctgtaatggc ccagatgggt tgttacgtcc ctgctgaagt gtgcaggctc acaccaattg
     3601 atagagtgtt tactagactt ggtgcctcag acagaataat gtcaggtgaa agtacatttt
     3661 ttgttgaatt aagtgaaact gccagcatac tcatgcatgc aacagcacat tctctggtgc
     3721 ttgtggatga attaggaaga ggtactgcaa catttgatgg gacggcaata gcaaatgcag
     3781 ttgttaaaga acttgctgag actataaaat gtcgtacatt attttcaact cactaccatt
     3841 cattagtaga agattattct caaaatgttg ctgtgcgcct aggacatatg gcatgcatgg
     3901 tagaaaatga atgtgaagac cccagccagg agactattac gttcctctat aaattcatta
     3961 agggagcttg tcctaaaagc tatggcttta atgcagcaag gcttgctaat ctcccagagg
     4021 aagttattca aaagggacat agaaaagcaa gagaatttga gaagatgaat cagtcactac
     4081 gattatttcg ggaagtttgc ctggctagtg aaaggtcaac tgtagatgct gaagctgtcc
     4141 ataaattgct gactttgatt aaggaattat agactgacta cattggaagc tttgagttga
     4201 cttctgacaa aggtggtaaa ttcagacaac attatgatct aataaacttt attttttaaa
     4261 aatga
//
