PMS1
Sign in to saveAlso known as HNPCC3, PMSL1, hPMS1, MLH2, PMS1 homolog 1, mismatch repair system component
PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene.
In the Vinony graph
Vinony's link graph records 10 inbound references to PMS1, and connects out to PubMed, human chromosome 2 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 2.
Vinony links it to 6 Wikipedia language editions.
Gene data
PMS1- Name
- PMS1 homolog 1, mismatch repair system component
- Type
- protein-coding
- Position
- 189,784,062–189,878,385 (+)
- Aliases
- HNPCC3, MLH2, PMSL1, hPMS1
- Ensembl
- ENSG00000064933
- RefSeq RNA
- NM_000534.5, NM_001128143.2, NM_001128144.2, NM_001289408.2, NM_001289409.2
- RefSeq protein
- NP_000525.1, NP_001121615.1, NP_001121616.1, NP_001276337.1, NP_001276338.1
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 Ontology
Molecular function
via MyGene.info
Gene · Ensembl
PMS1 homolog 1, mismatch repair system component
- Symbol
- PMS1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:189,784,062-189,878,385
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein PMS1 PDB 2cs1.png
Show 7 more facts
- HomoloGene ID
- 449
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5378
- genomic end
- 190742355
- genomic start
- 190649107
- chromosome
- human chromosome 2
- cytogenetic location
- 2q32.2
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Function
- Yeast studies
- References
- Further reading
PMS1 protein homolog 1 is a protein that in humans is encoded by the PMS1 gene.
== Function ==
Excerpted from Wikipedia’s “PMS1” article, available under the CC BY-SA 4.0 licence.