BMP1 wt Allele

Preferred Label : BMP1 wt Allele;

NCIt synonyms : TLD; PCOLC; PCP2; Tolloid, Drosophila, Homolog of Gene; OI13; PCP; Tolloid-Like Gene; Bone Morphogenetic Protein 1 wt Allele;

NCIt definition : Human BMP1 wild-type allele is located in the vicinity of 8p21.3 and is approximately 47 kb in length. This allele, which encodes bone morphogenetic protein 1, plays a role in collagen fibril remodeling during osteogenesis and cartilage formation. Mutation of the gene is associated with osteogenesis imperfecta type XIII.;

NCI Metathesaurus CUI : CL1663019;

GenBank Accession Number : NM_00613;

Details

Origin ID

C180432;

UMLS CUI

C5551061;

Automatic exact mappings (from CISMeF team)
- Bone morphogenetic protein 1 [OMIM gene]
- Osteogenesis imperfecta, type XIII [OMIM Phenotype]
- Phencyclidine [LOINC component]
- Phencyclidine (substance) [SNOMED CT concept]
- Prolylcarboxypeptidase [OMIM gene]
- Protein-tyrosine phosphatase, receptor-type, u [OMIM gene]
- Pyroglutamyl peptidase I [OMIM gene]
- family doctor [Q-code]
- non-ribosomal peptide synthetase activity [GO term]
- osteogenesis imperfecta type 13 [DO Concept]
- primary care provider [Q-code]
OMIM relation
- Bone morphogenetic protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8p21.3 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Developmental Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Protein Cleavage [NCIt concept]
- Proteolysis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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