NECTIN1 (nectin cell adhesion molecule 1)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5818
Gene name Gene Name - the full gene name approved by the HGNC.
Nectin cell adhesion molecule 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NECTIN1
Synonyms (NCBI Gene) Gene synonyms aliases
CD111, CLPED1, ED4, HIgR, HV1S, HVEC, OFC7, PRR, PRR1, PVRL1, PVRR, PVRR1, SK-12, nectin-1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OFC7
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobu
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs104894281 C>T Pathogenic Coding sequence variant, stop gained
rs876657374 C>- Pathogenic Frameshift variant, coding sequence variant
rs878853255 ->A Pathogenic Frameshift variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(41)
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0002089 Process Lens morphogenesis in camera-type eye IEA
GO:0002934 Process Desmosome organization IEA
GO:0005515 Function Protein binding IPI 11277703, 21982860, 22902367, 26787460, 32296183
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
600644 9706 ENSG00000110400
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID Q15223
Protein name Nectin-1 (Herpes virus entry mediator C) (Herpesvirus entry mediator C) (HveC) (Herpesvirus Ig-like receptor) (HIgR) (Nectin cell adhesion molecule 1) (Poliovirus receptor-related protein 1) (CD antigen CD111)
Protein function 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 ha
PDB 3ALP , 3SKU , 3U82 , 3U83 , 4FMF , 4MYW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 34 → 143 Immunoglobulin V-set domain Domain
PF08205 C2-set_2 148 → 237 CD80-like C2-set immunoglobulin domain Domain
PF13927 Ig_3 246 → 320 Domain
Sequence 
MARMGLAGAAGRWWGLALGLTAFFLPGVHSQVVQVNDSMYGFIGTDVVLHCSFANPLPSV
KITQVTWQKSTNGSKQNVAIYNPSMGVSVLAPYRERVEFLRPSFTDGTIRLSRLELEDEG
VYICEFATFPTGNRESQLNLTVMAKPTNWIEGTQAVLRAKKGQDDKVLVATCTSANGKPP
SVVSWETRLKGEAEYQEIRNPNGTVTVISRYRLVPSREAHQQSLACIVNYHMDRFKESLT
LNVQYEPEVTIEGFDGNWYLQRMDVKLTCKADANPPATEYHWTTLNGSLPKGVEAQNRTL
FFKGPINYSLAGTYICEATNPIGTRSGQVEVNITEFPYTPSPPEHGRRAGPVPTAIIGGV
AGSILLVLIVVGGIVVALRRRRHTFKGDYSTKKHVYGNGYSKAGIPQHHPPMAQNLQYPD
DSDDEKKAGPLGGSSYEEEEEEEEGGGGGERKVGGPHPKYDEDAKRPYFTVDEAEARQDG
YGDRTLGYQYDPEQLDLAENMVSQNDGSFISKKEWYV
Sequence length 517
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Ectodermal Dysplasia cleft lip/palate-ectodermal dysplasia syndrome GenCC
Hypertension Hypertension GWAS
Hyperopia Hyperopia GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Show/Hide Text Mining Associations (35)
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 19180502
Ascites Associate 28038455
Atypical Squamous Cells of the Cervix Inhibit 16879022
Breast Neoplasms Associate 20543867, 24386110
Calcinosis Cutis Stimulate 24386110
Carcinoma Adenoid Cystic Associate 23583282
Carcinoma Hepatocellular Associate 26058814
Carcinoma Squamous Cell Inhibit 16879022
Carcinoma Squamous Cell Associate 20855955
Cleft Lip Associate 22455396, 9758630