U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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