Bloom Syndrome Protein

Preferred Label : Bloom Syndrome Protein;

NCIt synonyms : BLM Protein; BLM; DNA Helicase, RECQ-Like, Type 2; EC 3.6.4.12; RecQ Protein-Like 3; DNA Helicase, RecQ-Like Type 2; RecQ2;

NCIt definition : Bloom syndrome protein (1417 aa, 159 kDa) is encoded by the human BLM gene. This protein plays a role in DNA replication and cell division.;

Details

Origin ID

C17980;

UMLS CUI

C1741784;

Automatic exact mappings (from CISMeF team)
- BLM RecQ like helicase [ORDO Gene]
- Bloom syndrome [OMIM Phenotype]
- RecQ helicases [MeSH Descriptor]
- RecQ2 helicase [MeSH concept]
- Recq protein-like 3 [OMIM gene]
- milk banks [MeSH Descriptor]
OMIM relation
- Recq protein-like 3 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- BLM protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- BLM Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Helicase Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleolus [NCIt concept]
gene_product_has_biochemical_function
- ATPase [NCIt concept]
gene_product_has_gene_product_variant
- BLM NP_000048.1:p.Y736fs*4 [NCIt concept]
- BLM Protein Variant [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Homologous Recombination Pathway [NCIt concept]
- Telomerase Regulation Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- ATP Hydrolysis [NCIt concept]
- DNA Binding [NCIt concept]
- DNA Maintenance Process [NCIt concept]
- DNA Recombination Process [NCIt concept]
- DNA Repair [NCIt concept]
- DNA Replication [NCIt concept]
- Hydrolysis [NCIt concept]
- Nucleic Acid Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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