COL18A1 wt Allele

Preferred Label : COL18A1 wt Allele;

NCIt synonyms : Collagen, Type XVIII, Alpha 1 wt Allele; Collagen XVIII (Alpha 1) Gene; Knobloch Syndrome, Type 1 Gene; Collagen, Type XVIII, Alpha-1 Gene; KNO1; KS; Endostatin Gene; KNO;

NCIt definition : Human COL18A1 wild-type allele is located in the vicinity of 21q22.3 and is approximately 109 kb in length. This allele, which encodes collagen alpha-1 (XVIII) chain protein, plays a role in the development of both the neural tube and the retina. Mutations in the gene are associated with Knobloch syndrome.;

NCIt note : The COL18A1 gene product can be cleaved by various proteases to release the antiangiogenic peptide endostatin.;

GenBank Accession Number : NM_030582;

Details

Origin ID

C52452;

UMLS CUI

C1704809;

Automatic exact mappings (from CISMeF team)
- 3-oxoacyl-acp synthase, mitochondrial [OMIM gene]
- Collagen, type XVIII, alpha-1 [OMIM gene]
- Kaposi sarcoma, primary site [ICD-11 Category]
- Kindler epidermolysis bullosa [ORDO Disease]
- Knobloch syndrome 1 [OMIM Phenotype]
- collagen type XVIII alpha 1 chain [ORDO Gene]
- endostatins [MeSH Descriptor]
- kaposi sarcoma [MedlinePlus Topic]
OMIM relation
- Collagen, type XVIII, alpha-1 [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_has_physical_location
- 21: 45649525-45758062 [NCIt concept]
gene_in_chromosomal_location
- 21q22.3 [NCIt concept]
gene_is_element_in_pathway
- FOXA1 Transcription Factor Signaling Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Inhibition of Cell Proliferation [NCIt concept]
- Morphogenesis [NCIt concept]
- Negative Regulation of Angiogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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