PROS1 wt Allele

Preferred Label : PROS1 wt Allele;

NCIt synonyms : PS21; PS22; PS23; PS24; PS25; THPH5; Protein S (Alpha) wt Allele; THPH6; PSA; Protein S, Alpha Gene; PROS;

NCIt definition : Human PROS1 wild-type allele is located in the vicinity of 3q11.2 and is approximately 101 kb in length. This allele, which encodes vitamin K-dependent protein S, is involved in the regulation of coagulation. Mutations in this gene are associated with both autosomal dominant and autosomal recessive thrombophilia due to protein S deficiency.;

NCIt note : An inactive pseudogene of this locus is also located on chromosome 3;

GenBank Accession Number : NM_000313;

Détails

Origin ID

C107572;

UMLS CUI

C3813209;

Automatic exact mappings (from CISMeF team)
- Aminopeptidase, puromycin-sensitive [OMIM gene]
- Kallikrein-related peptidase 3 [OMIM gene]
- PIK3CA-related overgrowth syndrome [ORDO Disease]
- PSA [MedDRA LLT]
- Prostate specific antigen positive [ICD-11 Sub-sub category]
- Prostate-Specific antigen [MeSH Descriptor]
- Prostatic specific antigen [MedDRA Preferred Term]
- Protein s [OMIM gene]
- Salivary gland adenoma, pleomorphic [OMIM Phenotype]
- Thrombophilia due to protein s deficiency, autosomal dominant [OMIM Phenotype]
- Thrombophilia due to protein s deficiency, autosomal recessive [OMIM Phenotype]
- autosomal dominant thrombophilia due to protein S deficiency [DO Concept]
- autosomal recessive thrombophilia due to protein S deficiency [DO Concept]
- phosphoserine aminotransferase 1 [ORDO Gene]
- polysialic acid [MeSH Supplementary Concept]
- pros [IUPAC Term]
- protein S [ORDO Gene]
OMIM relation
- Protein s [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Acute Myocardial Infarction Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- Extrinsic Prothrombin Activation Pathway [NCIt concept]
- Intrinsic Prothrombin Activation Pathway [NCIt concept]
gene_plays_role_in_process
- Negative Regulation of Coagulation [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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