LOCUS       NM_001321047            3333 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens PMS1 homolog 1, mismatch repair system component
            (PMS1), transcript variant 8, mRNA.
ACCESSION   NM_001321047 XM_011511353
VERSION     NM_001321047.2
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 3333)
  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 3333)
  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 3333)
  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 3333)
  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 3333)
  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 3333)
  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 3333)
  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 3333)
  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 3333)
  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 3333)
  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, BG772717.1,
            AC013468.12, BC096332.1, AK316215.1 and BM677668.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001321047.1.
            
            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 :: SRR1803617.122237.1,
                                           SRR1803611.7784.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-93                DC347859.1         366-458
            94-311              BG772717.1         6-223
            312-312             AC013468.12        77173-77173
            313-630             BG772717.1         225-542
            631-3101            BC096332.1         360-2830
            3102-3237           AK316215.1         2524-2659
            3238-3333           BM677668.1         18-113              c
FEATURES             Location/Qualifiers
     source          1..3333
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..3333
                     /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..321
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            322..473
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             342..3140
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="isoform a is encoded by transcript variant 8; 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 a"
                     /protein_id="NP_001307976.1"
                     /db_xref="CCDS:CCDS2302.1"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
                     /translation="MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKL
                     ENYGFDKIEVRDNGEGIKAVDAPVMAMKYYTSKINSHEDLENLTTYGFRGEALGSICC
                     IAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYS
                     TAKKCKDEIKKIQDLLMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAV
                     MNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLI
                     RHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMT
                     TCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQN
                     DMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ
                     TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSV
                     GENIEPVKILVPEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLL
                     SNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSEEEKLKYEEKA
                     TKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELL
                     QSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTS
                     KTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTAD
                     DQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNA
                     ILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDIIYRMKHQFGNEIKE
                     CVHGRPFFHHLTYLPETT"
     exon            474..656
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            657..759
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            760..923
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1040
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1163
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1307
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..2197
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2198..2683
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2684..2814
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2815..2975
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2976..3333
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3311..3316
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /note="hexamer: AATAAA"
     polyA_site      3333
                     /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 gaaggtagtg tggtgtgact aacgggtatt tattatatcc
      181 tcgatggctc gagggccccg tcccctctac tcgtcctggt ccgggcgcga acgctatagg
      241 gcagctaagg gcgctccccg cggggcggga agcgaagccg ggcttgcggg cgcgcacacg
      301 tggaacgcgt tttctgagca gctgctctgt taaaagcgaa aatgaaacaa ttgcctgcgg
      361 caacagttcg actcctttca agttctcaga tcatcacttc ggtggtcagt gttgtaaaag
      421 agcttattga aaactccttg gatgctggtg ccacaagcgt agatgttaaa ctggagaact
      481 atggatttga taaaattgag gtgcgagata acggggaggg tatcaaggct gttgatgcac
      541 ctgtaatggc aatgaagtac tacacctcaa aaataaatag tcatgaagat cttgaaaatt
      601 tgacaactta cggttttcgt ggagaagcct tggggtcaat ttgttgtata gctgaggttt
      661 taattacaac aagaacggct gctgataatt ttagcaccca gtatgtttta gatggcagtg
      721 gccacatact ttctcagaaa ccttcacatc ttggtcaagg tacaactgta actgctttaa
      781 gattatttaa gaatctacct gtaagaaagc agttttactc aactgcaaaa aaatgtaaag
      841 atgaaataaa aaagatccaa gatctcctca tgagctttgg tatccttaaa cctgacttaa
      901 ggattgtctt tgtacataac aaggcagtta tttggcagaa aagcagagta tcagatcaca
      961 agatggctct catgtcagtt ctggggactg ctgttatgaa caatatggaa tcctttcagt
     1021 accactctga agaatctcag atttatctca gtggatttct tccaaagtgt gatgcagacc
     1081 actctttcac tagtctttca acaccagaaa gaagtttcat cttcataaac agtcgaccag
     1141 tacatcaaaa agatatctta aagttaatcc gacatcatta caatctgaaa tgcctaaagg
     1201 aatctactcg tttgtatcct gttttctttc tgaaaatcga tgttcctaca gctgatgttg
     1261 atgtaaattt aacaccagat aaaagccaag tattattaca aaataaggaa tctgttttaa
     1321 ttgctcttga aaatctgatg acgacttgtt atggaccatt acctagtaca aattcttatg
     1381 aaaataataa aacagatgtt tccgcagctg acatcgttct tagtaaaaca gcagaaacag
     1441 atgtgctttt taataaagtg gaatcatctg gaaagaatta ttcaaatgtt gatacttcag
     1501 tcattccatt ccaaaatgat atgcataatg atgaatctgg aaaaaacact gatgattgtt
     1561 taaatcacca gataagtatt ggtgactttg gttatggtca ttgtagtagt gaaatttcta
     1621 acattgataa aaacactaag aatgcatttc aggacatttc aatgagtaat gtatcatggg
     1681 agaactctca gacggaatat agtaaaactt gttttataag ttccgttaag cacacccagt
     1741 cagaaaatgg caataaagac catatagatg agagtgggga aaatgaggaa gaagcaggtc
     1801 ttgaaaactc ttcggaaatt tctgcagatg agtggagcag gggaaatata cttaaaaatt
     1861 cagtgggaga gaatattgaa cctgtgaaaa ttttagtgcc tgaaaaaagt ttaccatgta
     1921 aagtaagtaa taataattat ccaatccctg aacaaatgaa tcttaatgaa gattcatgta
     1981 acaaaaaatc aaatgtaata gataataaat ctggaaaagt tacagcttat gatttactta
     2041 gcaatcgagt aatcaagaaa cccatgtcag caagtgctct ttttgttcaa gatcatcgtc
     2101 ctcagtttct catagaaaat cctaagacta gtttagagga tgcaacacta caaattgaag
     2161 aactgtggaa gacattgagt gaagaggaaa aactgaaata tgaagagaag gctactaaag
     2221 acttggaacg atacaatagt caaatgaaga gagccattga acaggagtca caaatgtcac
     2281 taaaagatgg cagaaaaaag ataaaaccca ccagcgcatg gaatttggcc cagaagcaca
     2341 agttaaaaac ctcattatct aatcaaccaa aacttgatga actccttcag tcccaaattg
     2401 aaaaaagaag gagtcaaaat attaaaatgg tacagatccc cttttctatg aaaaacttaa
     2461 aaataaattt taagaaacaa aacaaagttg acttagaaga gaaggatgaa ccttgcttga
     2521 tccacaatct caggtttcct gatgcatggc taatgacatc caaaacagag gtaatgttat
     2581 taaatccata tagagtagaa gaagccctgc tatttaaaag acttcttgag aatcataaac
     2641 ttcctgcaga gccactggaa aagccaatta tgttaacaga gagtcttttt aatggatctc
     2701 attatttaga cgttttatat aaaatgacag cagatgacca aagatacagt ggatcaactt
     2761 acctgtctga tcctcgtctt acagcgaatg gtttcaagat aaaattgata ccaggagttt
     2821 caattactga aaattacttg gaaatagaag gaatggctaa ttgtctccca ttctatggag
     2881 tagcagattt aaaagaaatt cttaatgcta tattaaacag aaatgcaaag gaagtttatg
     2941 aatgtagacc tcgcaaagtg ataagttatt tagagggaga agcagtgcgt ctatccagac
     3001 aattacccat gtacttatca aaagaggaca tccaagacat tatctacaga atgaagcacc
     3061 agtttggaaa tgaaattaaa gagtgtgttc atggtcgccc attttttcat catttaacct
     3121 atcttccaga aactacatga ttaaatatgt ttaagaagat tagttaccat tgaaattggt
     3181 tctgtcataa aacagcatga gtctggtttt aaattatctt tgtattatgt gtcacatggt
     3241 tattttttaa atgaggattc actgacttgt ttttatattg aaaaaagttc cacgtattgt
     3301 agaaaacgta aataaactaa tatagactat tca
//
