LOCUS       NM_001289409            2870 bp    mRNA    linear   PRI 13-OCT-2024
DEFINITION  Homo sapiens PMS1 homolog 1, mismatch repair system component
            (PMS1), transcript variant 5, mRNA.
ACCESSION   NM_001289409
VERSION     NM_001289409.2
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 2870)
  AUTHORS   Landry,K.K., Seward,D.J., Dragon,J.A., Slavik,M., Xu,K.,
            McKinnon,W.C., Colello,L., Sweasy,J., Wallace,S.S., Cuke,M. and
            Wood,M.E.
  TITLE     Investigation of discordant sibling pairs from hereditary breast
            cancer families and analysis of a rare PMS1 variant
  JOURNAL   Cancer Genet 260-261, 30-36 (2022)
   PUBMED   34852986
  REMARK    GeneRIF: Investigation of discordant sibling pairs from hereditary
            breast cancer families and analysis of a rare PMS1 variant.
REFERENCE   2  (bases 1 to 2870)
  AUTHORS   Graur,F., Puia,A., Mois,E., Pop,P., Berar,M., Elisei,R.,
            Zaharie,F., Nechita,V., Rusu,I., Buiga,R., Puia,C. and Al Hajjar,N.
  TITLE     Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations
            with clinical data in rectal mucinous adenocarcinoma
  JOURNAL   Ann Ital Chir 93, 188-194 (2022)
   PUBMED   34807001
  REMARK    GeneRIF: Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their
            correlations with clinical data in rectal mucinous adenocarcinoma.
REFERENCE   3  (bases 1 to 2870)
  AUTHORS   Kim,M., Park,J., Bouhaddou,M., Kim,K., Rojc,A., Modak,M.,
            Soucheray,M., McGregor,M.J., O'Leary,P., Wolf,D., Stevenson,E.,
            Foo,T.K., Mitchell,D., Herrington,K.A., Munoz,D.P., Tutuncuoglu,B.,
            Chen,K.H., Zheng,F., Kreisberg,J.F., Diolaiti,M.E., Gordan,J.D.,
            Coppe,J.P., Swaney,D.L., Xia,B., van 't Veer,L., Ashworth,A.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   4  (bases 1 to 2870)
  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   5  (bases 1 to 2870)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2870)
  AUTHORS   Kolodner,R.
  TITLE     Biochemistry and genetics of eukaryotic mismatch repair
  JOURNAL   Genes Dev 10 (12), 1433-1442 (1996)
   PUBMED   8666228
  REMARK    Review article
REFERENCE   7  (bases 1 to 2870)
  AUTHORS   Horii,A., Han,H.J., Sasaki,S., Shimada,M. and Nakamura,Y.
  TITLE     Cloning, characterization and chromosomal assignment of the human
            genes homologous to yeast PMS1, a member of mismatch repair genes
  JOURNAL   Biochem Biophys Res Commun 204 (3), 1257-1264 (1994)
   PUBMED   7980603
REFERENCE   8  (bases 1 to 2870)
  AUTHORS   Nicolaides,N.C., Papadopoulos,N., Liu,B., Wei,Y.F., Carter,K.C.,
            Ruben,S.M., Rosen,C.A., Haseltine,W.A., Fleischmann,R.D.,
            Fraser,C.M. et al.
  TITLE     Mutations of two PMS homologues in hereditary nonpolyposis colon
            cancer
  JOURNAL   Nature 371 (6492), 75-80 (1994)
   PUBMED   8072530
REFERENCE   9  (bases 1 to 2870)
  AUTHORS   Papadopoulos,N., Nicolaides,N.C., Wei,Y.F., Ruben,S.M.,
            Carter,K.C., Rosen,C.A., Haseltine,W.A., Fleischmann,R.D.,
            Fraser,C.M., Adams,M.D. et al.
  TITLE     Mutation of a mutL homolog in hereditary colon cancer
  JOURNAL   Science 263 (5153), 1625-1629 (1994)
   PUBMED   8128251
REFERENCE   10 (bases 1 to 2870)
  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 DC347859.1, AK316215.1,
            BC096331.1 and BG214666.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001289409.1.
            
            Summary: This gene encodes a protein belonging to the DNA mismatch
            repair mutL/hexB family. This protein is thought to be involved in
            the repair of DNA mismatches, and it can form heterodimers with
            MLH1, a known DNA mismatch repair protein. Mutations in this gene
            cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3)
            either alone or in combination with mutations in other genes
            involved in the HNPCC phenotype, which is also known as Lynch
            syndrome. [provided by RefSeq, Jul 2008].
            
            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 :: AK316215.1, SRR18074967.339660.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154529, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               DC347859.1         366-480
            116-396             AK316215.1         1-281
            397-1734            BC096331.1         588-1925
            1735-2774           AK316215.1         1620-2659
            2775-2870           BG214666.1         456-551
FEATURES             Location/Qualifiers
     source          1..2870
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..2870
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="PMS1 homolog 1, mismatch repair system component"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
     exon            1..144
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            145..296
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            297..460
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             407..2677
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="isoform d is encoded by transcript variant 5; human
                     homolog of yeast mutL; PMS1 postmeiotic segregation
                     increased 1; PMS1 protein homolog 1; mismatch repair gene
                     PMSL1; rhabdomyosarcoma antigen MU-RMS-40.10B;
                     rhabdomyosarcoma antigen MU-RMS-40.10E; DNA mismatch
                     repair protein PMS1"
                     /codon_start=1
                     /product="PMS1 protein homolog 1 isoform d"
                     /protein_id="NP_001276338.1"
                     /db_xref="CCDS:CCDS74615.1"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
                     /translation="MSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMN
                     NMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRH
                     HYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTC
                     YGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDM
                     HNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQTE
                     YSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGE
                     NIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSN
                     RVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKATK
                     DLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQS
                     QIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKT
                     EVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQ
                     RYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAIL
                     NRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNEIKECV
                     HGRPFFHHLTYLPETT"
     exon            461..577
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            578..700
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            701..844
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            845..1734
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1735..2220
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2221..2351
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2352..2512
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2513..2870
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2848..2853
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="hexamer: AATAAA"
     polyA_site      2870
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="major polyA site"
ORIGIN      
        1 agtgccgcgc tctctgcacc cgctctgccg cgcgcgtgcg tgctgggtgc gggtgcgggt
       61 gcggggttgg gcctgcgcat cgggtgagac gctggctgct tgcggctagt ggatggtaat
      121 tgcctgcctc gcgctagcag gaagctgctc tgttaaaagc gaaaatgaaa caattgcctg
      181 cggcaacagt tcgactcctt tcaagttctc agatcatcac ttcggtggtc agtgttgtaa
      241 aagagcttat tgaaaactcc ttggatgctg gtgccacaag cgtagatgtt aaactggtac
      301 aactgtaact gctttaagat tatttaagaa tctacctgta agaaagcagt tttactcaac
      361 tgcaaaaaaa tgtaaagatg aaataaaaaa gatccaagat ctcctcatga gctttggtat
      421 ccttaaacct gacttaagga ttgtctttgt acataacaag gcagttattt ggcagaaaag
      481 cagagtatca gatcacaaga tggctctcat gtcagttctg gggactgctg ttatgaacaa
      541 tatggaatcc tttcagtacc actctgaaga atctcagatt tatctcagtg gatttcttcc
      601 aaagtgtgat gcagaccact ctttcactag tctttcaaca ccagaaagaa gtttcatctt
      661 cataaacagt cgaccagtac atcaaaaaga tatcttaaag ttaatccgac atcattacaa
      721 tctgaaatgc ctaaaggaat ctactcgttt gtatcctgtt ttctttctga aaatcgatgt
      781 tcctacagct gatgttgatg taaatttaac accagataaa agccaagtat tattacaaaa
      841 taaggaatct gttttaattg ctcttgaaaa tctgatgacg acttgttatg gaccattacc
      901 tagtacaaat tcttatgaaa ataataaaac agatgtttcc gcagctgaca tcgttcttag
      961 taaaacagca gaaacagatg tgctttttaa taaagtggaa tcatctggaa agaattattc
     1021 aaatgttgat acttcagtca ttccattcca aaatgatatg cataatgatg aatctggaaa
     1081 aaacactgat gattgtttaa atcaccagat aagtattggt gactttggtt atggtcattg
     1141 tagtagtgaa atttctaaca ttgataaaaa cactaagaat gcatttcagg acatttcaat
     1201 gagtaatgta tcatgggaga actctcagac ggaatatagt aaaacttgtt ttataagttc
     1261 cgttaagcac acccagtcag aaaatggcaa taaagaccat atagatgaga gtggggaaaa
     1321 tgaggaagaa gcaggtcttg aaaactcttc ggaaatttct gcagatgagt ggagcagggg
     1381 aaatatactt aaaaattcag tgggagagaa tattgaacct gtgaaaattt tagtgcctga
     1441 aaaaagttta ccatgtaaag taagtaataa taattatcca atccctgaac aaatgaatct
     1501 taatgaagat tcatgtaaca aaaaatcaaa tgtaatagat aataaatctg gaaaagttac
     1561 agcttatgat ttacttagca atcgagtaat caagaaaccc atgtcagcaa gtgctctttt
     1621 tgttcaagat catcgtcctc agtttctcat agaaaatcct aagactagtt tagaggatgc
     1681 aacactacaa attgaagaac tgtggaagac attgagtgaa gaggaaaaac tgaaatatga
     1741 agagaaggct actaaagact tggaacgata caatagtcaa atgaagagag ccattgaaca
     1801 ggagtcacaa atgtcactaa aagatggcag aaaaaagata aaacccacca gcgcatggaa
     1861 tttggcccag aagcacaagt taaaaacctc attatctaat caaccaaaac ttgatgaact
     1921 ccttcagtcc caaattgaaa aaagaaggag tcaaaatatt aaaatggtac agatcccctt
     1981 ttctatgaaa aacttaaaaa taaattttaa gaaacaaaac aaagttgact tagaagagaa
     2041 ggatgaacct tgcttgatcc acaatctcag gtttcctgat gcatggctaa tgacatccaa
     2101 aacagaggta atgttattaa atccatatag agtagaagaa gccctgctat ttaaaagact
     2161 tcttgagaat cataaacttc ctgcagagcc actggaaaag ccaattatgt taacagagag
     2221 tctttttaat ggatctcatt atttagacgt tttatataaa atgacagcag atgaccaaag
     2281 atacagtgga tcaacttacc tgtctgatcc tcgtcttaca gcgaatggtt tcaagataaa
     2341 attgatacca ggagtttcaa ttactgaaaa ttacttggaa atagaaggaa tggctaattg
     2401 tctcccattc tatggagtag cagatttaaa agaaattctt aatgctatat taaacagaaa
     2461 tgcaaaggaa gtttatgaat gtagacctcg caaagtgata agttatttag agggagaagc
     2521 agtgcgtcta tccagacaat tacccatgta cttatcaaaa gaggacatcc aagacattat
     2581 ctacagaatg aagcaccagt ttggaaatga aattaaagag tgtgttcatg gtcgcccatt
     2641 ttttcatcat ttaacctatc ttccagaaac tacatgatta aatatgttta agaagattag
     2701 ttaccattga aattggttct gtcataaaac agcatgagtc tggttttaaa ttatctttgt
     2761 attatgtgtc acatggttat tttttaaatg aggattcact gacttgtttt tatattgaaa
     2821 aaagttccac gtattgtaga aaacgtaaat aaactaatat agactattca
//
