NT5C3A wt Allele

Preferred Label : NT5C3A wt Allele;

NCIt synonyms : P5N-1; Pyrimidine 5-Prime-Nucleotidase 1 Gene; PN-I; 5-Prime-Nucleotidase, Cytosolic IIIA Gene; NT5C3; P5N1; Lupin Gene; 5'-Nucleotidase, Cytosolic IIIA wt Allele; P5'N-1; UMPH; p36; Nucleotidase, 5-Prime, Cytosolic III Gene; 5'-Nucleotidase, Cytosolic III Gene; hUMP1; UMPH1; POMP; Uridine 5-Prime Monophosphate Hydrolase 1 Gene; PSN1; cN-III;

NCIt definition : Human NT5C3A wild-type allele is located in the vicinity of 7p14.3 and is approximately 49 kb in length. This allele, which encodes cytosolic 5'-nucleotidase 3A protein, plays a role in the metabolism of pyrimidine 5' monophosphates. Loss of function mutations in the gene are associated with hemolytic anemia due to pyrimidine 5'-nucleotidase deficiency.;

NCI Metathesaurus CUI : CL1799131;

GenBank Accession Number : AF312735;

Details

Origin ID

C190603;

UMLS CUI

C5780993;

OMIM relation
- 5-prime-nucleotidase, cytosolic iiia [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- 5'-nucleotidase, cytosolic IIIA [ORDO Gene]
- 5-prime-nucleotidase, cytosolic iiia [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

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