Uracil-DNA Glycosylase Isoform 1

Preferred Label : Uracil-DNA Glycosylase Isoform 1;

NCIt synonyms : UNG; UDG1M; UDG; UDG1; EC 3.2.2.27; UNG1; Uracil-DNA Glycosylase, Mitochondrial Isoform; Uracil-DNA Glycosylase 1;

NCIt definition : Uracil-DNA glycosylase (304 aa, 34 kDa) is encoded by the human UNG gene. This protein plays a role in excision of uracil from DNA strands.;

NCIt note : Uracil-DNA glycosylase has 2 isoforms produced by alternative splicing. Isoform 1 is widely expressed and found in mitochondria. Isoform 2 is expressed in proliferating tissues and is found in the nucleus and is the canonical form according to UniProt.;

NCI Metathesaurus CUI : CL1773595;

Details

Origin ID

C185331;

UMLS CUI

C5575282;

OMIM relation
- Uracil-dna glycosylase [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [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]
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- UNG Gene [NCIt concept]
gene_product_has_associated_anatomy
- Mitochondrion [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Base Excision Repair Pathway [NCIt concept]
- Primary Immunodeficiency Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Base Excision Repair [NCIt concept]
- DNA Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Immunoglobulin Gene Rearrangement Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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