nectin cell adhesion molecule 1
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
Clefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEctodermal dysplasia
BIALLELIC, autosomal or pseudoautosomalEctodermal dysplasia without a known gene mutation
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
UnknownIntellectual disability
cleft lip/palate-ectodermal dysplasia syndrome
Zlotogora-Ogur syndrome
orofacial cleft 7
cleft lip
systemic inflammatory response syndrome
ocular hypotension
mathematical ability
Headache
Abdominal pain
Limb pain
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Nectin-1
Cell adhesion molecule that promotes cell-cell contacts and plays important roles in the development of the nervous system (PubMed:21325282). Acts by forming homophilic or heterophilic trans-dimers (PubMed:21325282). Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4 (By similarity). Involved in axon guidance by promoting contacts between the commissural axons and the floor plate cells (By similarity). Involved in synaptogegesis (By similarity). Has some neurite outgrowth-promoting activity (By similarity). Promotes formation of checkerboard-like cellular pattern of hair cells and supporting cells in the auditory epithelium via heterophilic interaction with NECTIN3: NECTIN1 is present in the membrane of hair cells and associates with NECTIN3 on supporting cells, thereby mediating heterotypic adhesion between these two cell types (By similarity). Required for enamel mineralization (By similarity)
NECTIN1 · Q15223
Mean pLDDT
75.6/ 100
Confident
517 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
