Homo sapiens Gene: PMS1
Summary
InnateDB Gene IDBG-77409.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PMS1
Gene Name PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
Synonyms HNPCC3; hPMS1; PMSL1;
Species Homo sapiens
Ensembl Gene ENSG00000064933
Encoded Proteins
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:189784085-189877629
Strand Forward strand
Band q32.2
Transcripts
ENST00000342075 ENSP00000343888
ENST00000374826 ENSP00000363959
ENST00000409823 ENSP00000387125
ENST00000409985 ENSP00000386623
ENST00000409593 ENSP00000387169
ENST00000441310 ENSP00000406490
ENST00000418224 ENSP00000404492
ENST00000432292 ENSP00000398378
ENST00000446877 ENSP00000413837
ENST00000450931 ENSP00000406225
ENST00000421722
ENST00000424766 ENSP00000410082
ENST00000447232 ENSP00000401064
ENST00000447734 ENSP00000411151
ENST00000420421 ENSP00000391136
ENST00000424307 ENSP00000389938
ENST00000424059
ENST00000452382 ENSP00000396232
ENST00000483293
ENST00000624204 ENSP00000485312
ENST00000618056 ENSP00000480632
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 52 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 52 [view]
Protein-Protein 51 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003697 single-stranded DNA binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0030983 mismatched DNA binding
Biological Process
GO:0006200 ATP catabolic process
GO:0006298 mismatch repair
GO:0042493 response to drug
Cellular Component
GO:0005634 nucleus
GO:0032389 MutLalpha complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL E9PH88 Q68DF0
UniProt Splice Variant
Entrez Gene 5378
UniGene Hs.111749
RefSeq NM_000534 NM_001128143 NM_001128144 NM_001289408 NM_001289409 XM_005246647 XM_006712596
HUGO HGNC:9121
OMIM 600258
CCDS CCDS2302 CCDS46473 CCDS46474 CCDS74615
HPRD 02597
IMGT
EMBL AC008122 AC013468 CR749432
GenPept CAH18270
RNA Seq Atlas 5378