LOCUS       NP_000525                932 aa            linear   PRI 12-OCT-2024
DEFINITION  PMS1 protein homolog 1 isoform a [Homo sapiens].
ACCESSION   NP_000525
VERSION     NP_000525.1
DBSOURCE    REFSEQ: accession NM_000534.5
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  (residues 1 to 932)
  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  (residues 1 to 932)
  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  (residues 1 to 932)
  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  (residues 1 to 932)
  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  (residues 1 to 932)
  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  (residues 1 to 932)
  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  (residues 1 to 932)
  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  (residues 1 to 932)
  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  (residues 1 to 932)
  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 (residues 1 to 932)
  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, BC096330.1,
            BC096332.1 and BM677668.1.
            
            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 :: BC096330.1, SRR14038193.3056086.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000441310.7/ ENSP00000406490.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..932
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     Protein         1..932
                     /product="PMS1 protein homolog 1 isoform a"
                     /note="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"
                     /calculated_mol_wt=105700
     Region          1..318
                     /region_name="mutl"
                     /note="DNA mismatch repair protein MutL; TIGR00585"
                     /db_xref="CDD:273155"
     Region          465..493
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P54277.1)"
     Region          571..642
                     /region_name="HMG-box_PMS1"
                     /note="high mobility group (HMG)-box found in PMS1 protein
                     homolog 1 (PMS1) and similar proteins; cd21985"
                     /db_xref="CDD:438801"
     Site            order(572..573,575..579,582..583,590,602..603,606,
                     609..610,617,621,624,628,631)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:438801"
     CDS             1..932
                     /gene="PMS1"
                     /gene_synonym="HNPCC3; hPMS1; MLH2; PMSL1"
                     /coded_by="NM_000534.5:165..2963"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2302.1"
                     /db_xref="GeneID:5378"
                     /db_xref="HGNC:HGNC:9121"
                     /db_xref="MIM:600258"
ORIGIN      
        1 mkqlpaatvr llsssqiits vvsvvkelie nsldagatsv dvklenygfd kievrdngeg
       61 ikavdapvma mkyytskins hedlenltty gfrgealgsi cciaevlitt rtaadnfstq
      121 yvldgsghil sqkpshlgqg ttvtalrlfk nlpvrkqfys takkckdeik kiqdllmsfg
      181 ilkpdlrivf vhnkaviwqk srvsdhkmal msvlgtavmn nmesfqyhse esqiylsgfl
      241 pkcdadhsft slstpersfi finsrpvhqk dilklirhhy nlkclkestr lypvfflkid
      301 vptadvdvnl tpdksqvllq nkesvliale nlmttcygpl pstnsyennk tdvsaadivl
      361 sktaetdvlf nkvessgkny snvdtsvipf qndmhndesg kntddclnhq isigdfgygh
      421 csseisnidk ntknafqdis msnvswensq teysktcfis svkhtqseng nkdhidesge
      481 neeeaglens seisadewsr gnilknsvge niepvkilvp ekslpckvsn nnypipeqmn
      541 lnedscnkks nvidnksgkv taydllsnrv ikkpmsasal fvqdhrpqfl ienpktsled
      601 atlqieelwk tlseeeklky eekatkdler ynsqmkraie qesqmslkdg rkkikptsaw
      661 nlaqkhklkt slsnqpklde llqsqiekrr sqnikmvqip fsmknlkinf kkqnkvdlee
      721 kdepclihnl rfpdawlmts ktevmllnpy rveeallfkr llenhklpae plekpimlte
      781 slfngshyld vlykmtaddq rysgstylsd prltangfki klipgvsite nyleiegman
      841 clpfygvadl keilnailnr nakevyecrp rkvisylege avrlsrqlpm ylskediqdi
      901 iyrmkhqfgn eikecvhgrp ffhhltylpe tt
//
