PMS1 Protein Homolog 1

Preferred Label : PMS1 Protein Homolog 1;

NCIt synonyms : Postmeiotic Segregation 1; PMS1; Human Homolog of Yeast mutL; DNA Mismatch Repair Protein PMS1; Rhabdomyosarcoma Antigen MU-RMS-40.10B; Rhabdomyosarcoma Antigen MU-RMS-40.10E; DNA Mismatch Repair Protein-PMS1;

NCIt definition : PMS1 protein homolog 1 (932 aa, 106 kDa) is encoded by the human PMS1 gene. This protein is involved in the repair of DNA mismatches.;

NCIt note : MutL-beta is a heterodimer of PMS1 and MLH1. (UniProt);

Details

Origin ID

C21477;

UMLS CUI

C0258380;

Automatic exact mappings (from CISMeF team)
- PMS-1 [MeSH concept]
- PMS-1 [MeSH Supplementary Concept]
- PMS1 homolog 1, mismatch repair system component [ORDO Gene]
- Pms1 homolog 1, mismatch repair system component [OMIM gene]
OMIM relation
- Pms1 homolog 1, mismatch repair system component [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- DNA Repair Gene [NCIt concept]
- PMS1 Gene [NCIt concept]
gene_product_expressed_in_tissue
- Gallbladder [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- Mismatch Repair Protein [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_has_structural_domain_or_motif
- HMG-Box [NCIt concept]
gene_product_malfunction_associated_with_disease
- Lynch Syndrome [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Mismatch Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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