NECTIN1 wt Allele

Preferred Label : NECTIN1 wt Allele;

NCIt synonyms : HVEC; PVRL1; ED4; SK-12; Herpes Simplex Virus Type 1 Sensitivity Gene; Nectin Cell Adhesion Molecule 1 wt Allele; PVRR; CLPED1; HIgR; Ectodermal Dysplasia 4 (Margarita Island Type) Gene; PRR; HV1S; CD111; PRR1; Poliovirus Receptor-Related 1 (Herpesvirus Entry Mediator C) Gene; OFC7; PVRR1;

NCIt definition : Human NECTIN1 wild-type allele is located in the vicinity of 11q23.3 and is approximately 106 kb in length. This allele, which encodes nectin-1 protein, is involved in both viral entry and the promotion of cell-cell adhesion. Mutation of the gene is associated with both cleft lip/palate-ectodermal dysplasia syndrome and orofacial cleft 7.;

NCIt note : HGNC reports the human PVRL1 gene is located within 11q23-q24.;

GenBank Accession Number : X76400;

Détails

Origin ID

C118613;

UMLS CUI

C3889721;

Automatic exact mappings (from CISMeF team)
- ATPase H+ transporting accessory protein 2 [ORDO Gene]
- Cleft lip/palate-ectodermal dysplasia syndrome [OMIM Phenotype]
- Cleft lip/palate-ectodermal dysplasia syndrome [ORDO Disease]
- Nectin cell adhesion molecule 1 [OMIM gene]
- Nectins [MeSH Descriptor]
- Zlotogora-Ogur syndrome [MeSH Supplementary Concept]
- cleft lip-palate-ectodermal dysplasia syndrome [DO Concept]
- nectin cell adhesion molecule 1 [ORDO Gene]
- pattern recognition receptor [COVID-19 Thesaurus concept]
- pattern recognition receptor activity [GO term]
OMIM relation
- Nectin cell adhesion molecule 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_in_chromosomal_location
- 11q23.3 [NCIt concept]
gene_is_element_in_pathway
- Adherens Junction Assembly Pathway [NCIt concept]
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
- Nectin Adhesion Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell-Cell Adhesion Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Virus-Cell Membrane Interaction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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