Jagged 1 - CISMeF

Preferred Label : Jagged 1;

Symbol : JAG1;

CISMeF acronym : JAGL1; JAG1;

Type : Gene;

Alternative titles and symbols : JAGL1;

Description : Jagged-1 is a ligand of the Notch receptor (see Notch1, 190198), and their binding triggers a cascade of proteolytic cleavage that eventually leads to the release of the intracellular part of the receptor from the membrane, allowing it to translocate to the nucleus and activate transcription factors that play key roles in cell differentiation and morphogenesis (Guarnaccia et al., 2004).;

Ensembl ID : ENSG00000101384;

Prefixed ID : *601920;

Details

Origin ID

601920;

UMLS CUI

C1416525;

Automatic exact mappings (from CISMeF team)
- JAG1 Gene [NCIt concept]
- JAG1 gene [LOINC component]
- JAG1 wt Allele [NCIt concept]
- Jagged-1 Protein [MeSH Descriptor]
- Protein Jagged-1 [NCIt concept]
- jagged canonical Notch ligand 1 [HGNC gene]
Currated CISMeF NLP mapping
- jagged canonical Notch ligand 1 [ORDO Gene]
HGNC gene
- jagged canonical Notch ligand 1 [HGNC gene]
NCIt concept(s)
- JAG1 Gene [NCIt concept]
- JAG1 wt Allele [NCIt concept]
- Protein Jagged-1 [NCIt concept]
ORDO concept(s)
- jagged canonical Notch ligand 1 [ORDO Gene]
Phenotypes related
- Alagille syndrome 1 [OMIM Phenotype]
- Charcot-marie-tooth disease, axonal, type 2hh [OMIM Phenotype]
- Deafness, congenital heart defects, and posterior embryotoxon [OMIM Phenotype]
- Tetralogy of fallot [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- JAG1 Gene [NCIt concept]
- JAG1 gene [LOINC component]
- jagged canonical Notch ligand 1 [ORDO Gene]
- jagged canonical Notch ligand 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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