• Gene id: 5378

Gene Summary

• Gene Symbol: PMS1   Gene   UCSC   Ensembl
• Aliases: HNPCC3, MLH2, PMSL1, hPMS1
• Gene name: PMS1 homolog 1, mismatch repair system component
• Alternate names: PMS1 protein homolog 1, 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,
• Gene location: 2q32.2 (189784084: 189877628)     Exons: 18     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 600258

SNPs

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs759981524

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

Protein Summary

• Protein general information: P54277  
  • Name: PMS1 protein homolog 1 (DNA mismatch repair protein PMS1)
  • Length: 932  
  • Mass: 105830
• Sequence:

  MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEGIKAVDAPVMAMKYYT
  SKINSHEDLENLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQYVLDGSGHILSQKPSHLGQGTTVTALRLFK
  NLPVRKQFYSTAKKCKDEIKKIQDLLMSFGILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESF
  QYHSEESQIYLSGFLPKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKID
  VPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVES
  SGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKNAFQDISMSNVSWENSQ
  TEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLP
  CKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLED
  ATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQ
  PKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPY
  RVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPG
  VSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDI
  IYRMKHQFGNEIKECVHGRPFFHHLTYLPETT

• Structural information:
  • Interpro: IPR014762  IPR002099  IPR013507  IPR036890  IPR009071   IPR036910  IPR038973  IPR031263  IPR020568  IPR014721  
  • Prosite: PS00058 PS50118
  • PDB: 2CS1
  • PDBsum: 2CS1
  • STRING: ENSP00000406490
• Other Databases: GeneCards:  PMS1  Malacards:  PMS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032389	MutLalpha complex	IBA	cellular component
GO:0032300	mismatch repair complex	IBA	cellular component
GO:0006298	mismatch repair	IBA	biological process
GO:0016887	ATPase activity	IBA	molecular function
GO:0006298	mismatch repair	IEA	biological process
GO:0032300	mismatch repair complex	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0030983	mismatched DNA binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006298	mismatch repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006298	mismatch repair	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function

Diseases

Associated diseases	References
pancreatic ductal carcinoma	PMID:15856462
Lynch syndrome	PMID:8072530
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray