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    PMS1 PMS1 homolog 1, mismatch repair system component [ Homo sapiens (human) ]

    Gene ID: 5378, updated on 7-Apr-2024

    Summary

    Official Symbol
    PMS1provided by HGNC
    Official Full Name
    PMS1 homolog 1, mismatch repair system componentprovided by HGNC
    Primary source
    HGNC:HGNC:9121
    See related
    Ensembl:ENSG00000064933 MIM:600258; AllianceGenome:HGNC:9121
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MLH2; PMSL1; hPMS1; HNPCC3
    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]
    Expression
    Ubiquitous expression in testis (RPKM 8.3), endometrium (RPKM 3.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2q32.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189784450..189877629)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190273733..190366996)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190649176..190742355)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ankyrin and armadillo repeat containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:190627447-190628193 Neighboring gene OSGEPL1 antisense RNA 1 Neighboring gene O-sialoglycoprotein endopeptidase like 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:190648352-190649238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16857 Neighboring gene ORMDL sphingolipid biosynthesis regulator 1 Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene Neighboring gene uncharacterized LOC105373796 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:190727824-190728081 Neighboring gene chromosome 2 open reading frame 88 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 2 Neighboring gene TERF1 pseudogene 6

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Lynch syndrome 1
    MedGen: C2936783 OMIM: 120435 GeneReviews: Lynch Syndrome
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ98259, DKFZp781M0253

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables mismatched DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of MutLalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    PMS1 protein homolog 1
    Names
    DNA mismatch repair protein PMS1
    PMS1 postmeiotic segregation increased 1
    human homolog of yeast mutL
    mismatch repair gene PMSL1
    rhabdomyosarcoma antigen MU-RMS-40.10B
    rhabdomyosarcoma antigen MU-RMS-40.10E

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008648.1 RefSeqGene

      Range
      5001..98545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_221

    mRNA and Protein(s)

    1. NM_000534.5NP_000525.1  PMS1 protein homolog 1 isoform a

      See identical proteins and their annotated locations for NP_000525.1

      Status: REVIEWED

      Source sequence(s)
      BC096330, BC096332, BM677668, DC347859
      Consensus CDS
      CCDS2302.1
      UniProtKB/Swiss-Prot
      D3DPI1, P54277, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8
      UniProtKB/TrEMBL
      B4DIH7
      Related
      ENSP00000406490.3, ENST00000441310.7
      Conserved Domains (2) summary
      cd01390
      Location:572636
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
    2. NM_001128143.2NP_001121615.1  PMS1 protein homolog 1 isoform b

      See identical proteins and their annotated locations for NP_001121615.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is also known as PMS1 nirs variant 7.
      Source sequence(s)
      AB102875, BM677668, DC347859
      Consensus CDS
      CCDS46474.1
      UniProtKB/TrEMBL
      B4DIH7
      Related
      ENSP00000387125.3, ENST00000409823.7
      Conserved Domains (2) summary
      cd01390
      Location:533597
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      TIGR00585
      Location:1279
      mutl; DNA mismatch repair protein MutL
    3. NM_001128144.2NP_001121616.1  PMS1 protein homolog 1 isoform c

      See identical proteins and their annotated locations for NP_001121616.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is also known as PMS1 nirs variant 2.
      Source sequence(s)
      AB102870, BC096330, BM677668, DC347859
      Consensus CDS
      CCDS46473.1
      UniProtKB/TrEMBL
      I6L9H5
      Related
      ENSP00000401064.2, ENST00000447232.6
      Conserved Domains (4) summary
      cd01390
      Location:572617
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      cd03485
      Location:205338
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
      pfam02518
      Location:18105
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
    4. NM_001289408.2NP_001276337.1  PMS1 protein homolog 1 isoform d

      See identical proteins and their annotated locations for NP_001276337.1

      Status: REVIEWED

      Source sequence(s)
      AK295602, BC096332, BG195153, DC347859
      Consensus CDS
      CCDS74615.1
      UniProtKB/TrEMBL
      B4DIH7, B7ZAA0
      Related
      ENSP00000485312.1, ENST00000624204.3
      Conserved Domains (2) summary
      cd01390
      Location:396460
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      cd03485
      Location:29162
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
    5. NM_001289409.2NP_001276338.1  PMS1 protein homolog 1 isoform d

      See identical proteins and their annotated locations for NP_001276338.1

      Status: REVIEWED

      Source sequence(s)
      AK316215, BC096331, BG214666, DC347859
      Consensus CDS
      CCDS74615.1
      UniProtKB/TrEMBL
      B4DIH7, B7ZAA0
      Related
      ENSP00000398378.3, ENST00000432292.7
      Conserved Domains (2) summary
      cd01390
      Location:396460
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      cd03485
      Location:29162
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
    6. NM_001321044.2NP_001307973.1  PMS1 protein homolog 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AK316215, AY540751, BM677668, DA389799, DC347859
      UniProtKB/TrEMBL
      I6L9H5
      Conserved Domains (4) summary
      cd01390
      Location:533601
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      cd03485
      Location:194299
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
      TIGR00585
      Location:1279
      mutl; DNA mismatch repair protein MutL
      pfam02518
      Location:18105
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
    7. NM_001321045.2NP_001307974.1  PMS1 protein homolog 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AK316215, BC096332, BM677668, DB178424, DC347859
      Consensus CDS
      CCDS2302.1
      UniProtKB/Swiss-Prot
      D3DPI1, P54277, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8
      UniProtKB/TrEMBL
      B4DIH7
      Conserved Domains (2) summary
      cd01390
      Location:572636
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
    8. NM_001321046.2NP_001307975.1  PMS1 protein homolog 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AK316215, BC096332, BM677668, DC347859, DC360786
      UniProtKB/TrEMBL
      B4DIH7
      Conserved Domains (3) summary
      cd01390
      Location:511575
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      cd03485
      Location:144277
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
      TIGR00585
      Location:1257
      mutl; DNA mismatch repair protein MutL
    9. NM_001321047.2NP_001307976.1  PMS1 protein homolog 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC013468, AK316215, BC096332, BG772717, BM677668, DC347859
      Consensus CDS
      CCDS2302.1
      UniProtKB/Swiss-Prot
      D3DPI1, P54277, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8
      UniProtKB/TrEMBL
      B4DIH7
      Conserved Domains (2) summary
      cd01390
      Location:572636
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
    10. NM_001321048.2NP_001307977.1  PMS1 protein homolog 1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AK316215, BC096332, BM677668, DA206770, DC347859
      Consensus CDS
      CCDS2302.1
      UniProtKB/Swiss-Prot
      D3DPI1, P54277, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8
      UniProtKB/TrEMBL
      B4DIH7
      Conserved Domains (2) summary
      cd01390
      Location:572636
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
    11. NM_001321049.2NP_001307978.1  PMS1 protein homolog 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC008122, BC008410, DC347859
      Consensus CDS
      CCDS82544.1
      UniProtKB/TrEMBL
      E9PC40, Q7KZT4
      Related
      ENSP00000386623.1, ENST00000409985.5
      Conserved Domains (1) summary
      cl00075
      Location:2061
      HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins
    12. NM_001321051.2NP_001307980.1  PMS1 protein homolog 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      BC084548, DC347859
      Consensus CDS
      CCDS82543.1
      UniProtKB/TrEMBL
      Q5XG96, Q7KZT4
      Related
      ENSP00000363959.4, ENST00000374826.8
      Conserved Domains (2) summary
      pfam13900
      Location:144165
      GVQW; Putative domain of unknown function
      cl00075
      Location:2061
      HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins

    RNA

    1. NR_110332.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008122, AY540751, CV570894
      Related
      ENST00000450931.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      189784450..189877629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004348.2XP_016859837.1  PMS1 protein homolog 1 isoform X4

      UniProtKB/TrEMBL
      I6L9H5
      Conserved Domains (4) summary
      cd01390
      Location:572617
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      cd03485
      Location:205338
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
      pfam02518
      Location:18105
      HATPase_c; Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase
    2. XM_047444775.1XP_047300731.1  PMS1 protein homolog 1 isoform X1

    3. XM_024452966.2XP_024308734.1  PMS1 protein homolog 1 isoform X1

      UniProtKB/TrEMBL
      B4DIH7
      Conserved Domains (2) summary
      cd01390
      Location:533597
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      TIGR00585
      Location:1279
      mutl; DNA mismatch repair protein MutL
    4. XM_017004344.2XP_016859833.1  PMS1 protein homolog 1 isoform X1

      UniProtKB/TrEMBL
      B4DIH7
      Conserved Domains (2) summary
      cd01390
      Location:533597
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      TIGR00585
      Location:1279
      mutl; DNA mismatch repair protein MutL
    5. XM_017004350.2XP_016859839.1  PMS1 protein homolog 1 isoform X6

      UniProtKB/TrEMBL
      I6L9H5
    6. XM_017004347.2XP_016859836.1  PMS1 protein homolog 1 isoform X2

      UniProtKB/TrEMBL
      B4DIH7
    7. XM_047444777.1XP_047300733.1  PMS1 protein homolog 1 isoform X4

    8. XM_024452967.2XP_024308735.1  PMS1 protein homolog 1 isoform X1

      UniProtKB/TrEMBL
      B4DIH7
      Conserved Domains (2) summary
      cd01390
      Location:533597
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      TIGR00585
      Location:1279
      mutl; DNA mismatch repair protein MutL
    9. XM_047444778.1XP_047300734.1  PMS1 protein homolog 1 isoform X6

    10. XM_047444776.1XP_047300732.1  PMS1 protein homolog 1 isoform X3

      Related
      ENSP00000389938.1, ENST00000424307.5
    11. XM_006712596.2XP_006712659.1  PMS1 protein homolog 1 isoform X5

      UniProtKB/TrEMBL
      B4DIH7
      Conserved Domains (2) summary
      cd01390
      Location:387451
      HMGB-UBF_HMG-box; HMGB-UBF_HMG-box, class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone ...
      cd03485
      Location:20153
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      190273733..190366996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342584.1XP_054198559.1  PMS1 protein homolog 1 isoform X4

    2. XM_054342578.1XP_054198553.1  PMS1 protein homolog 1 isoform X1

    3. XM_054342579.1XP_054198554.1  PMS1 protein homolog 1 isoform X1

    4. XM_054342586.1XP_054198561.1  PMS1 protein homolog 1 isoform X6

    5. XM_054342581.1XP_054198556.1  PMS1 protein homolog 1 isoform X2

    6. XM_054342583.1XP_054198558.1  PMS1 protein homolog 1 isoform X4

    7. XM_054342580.1XP_054198555.1  PMS1 protein homolog 1 isoform X1

    8. XM_054342587.1XP_054198562.1  PMS1 protein homolog 1 isoform X6

    9. XM_054342582.1XP_054198557.1  PMS1 protein homolog 1 isoform X3

    10. XM_054342577.1XP_054198552.1  PMS1 protein homolog 1 isoform X1

    11. XM_054342585.1XP_054198560.1  PMS1 protein homolog 1 isoform X5