NECTIN1 (nectin cell adhesion molecule 1)

Gene

• Entrez ID: 5818
• Gene name: Nectin cell adhesion molecule 1
• Gene symbol: NECTIN1
• Synonyms: CD111, CLPED1, ED4, HIgR, HV1S, HVEC, OFC7, PRR, PRR1, PVRL1, PVRR, PVRR1, SK-12, nectin-1
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: 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 immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004550	hsa-miR-661	immunoblot, qRT-PCR	20543867
MIRT039655	hsa-miR-615-3p	CLASH	23622248
MIRT437384	hsa-miR-199a-5p	Luciferase reporter assay	23201090
MIRT737395	hsa-miR-1324	PAR-CLIP	26701625
MIRT737478	hsa-miR-1343-5p	PAR-CLIP	26701625
MIRT737759	hsa-miR-149-3p	PAR-CLIP	26701625
MIRT738212	hsa-miR-185-3p	PAR-CLIP	26701625
MIRT740275	hsa-miR-3150a-3p	PAR-CLIP	26701625
MIRT740672	hsa-miR-3175	PAR-CLIP	26701625
MIRT740867	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT743264	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT745292	hsa-miR-4492	PAR-CLIP	26701625
MIRT745373	hsa-miR-4498	PAR-CLIP	26701625
MIRT745532	hsa-miR-4505	PAR-CLIP	26701625
MIRT746802	hsa-miR-4667-5p	PAR-CLIP	26701625
MIRT747279	hsa-miR-4700-5p	PAR-CLIP	26701625
MIRT747334	hsa-miR-4706	PAR-CLIP	26701625
MIRT747855	hsa-miR-4728-5p	PAR-CLIP	26701625
MIRT747941	hsa-miR-4731-5p	PAR-CLIP	26701625
MIRT748315	hsa-miR-4749-5p	PAR-CLIP	26701625
MIRT749366	hsa-miR-5001-5p	PAR-CLIP	26701625
MIRT751481	hsa-miR-5787	PAR-CLIP	26701625
MIRT751803	hsa-miR-6085	PAR-CLIP	26701625
MIRT755017	hsa-miR-6763-5p	PAR-CLIP	26701625
MIRT755392	hsa-miR-6777-5p	PAR-CLIP	26701625
MIRT755512	hsa-miR-6779-5p	PAR-CLIP	26701625
MIRT755850	hsa-miR-6785-5p	PAR-CLIP	26701625
MIRT756739	hsa-miR-6813-5p	PAR-CLIP	26701625
MIRT757000	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT757789	hsa-miR-6858-5p	PAR-CLIP	26701625
MIRT758435	hsa-miR-6883-5p	PAR-CLIP	26701625
MIRT758641	hsa-miR-6889-5p	PAR-CLIP	26701625
MIRT758874	hsa-miR-7106-5p	PAR-CLIP	26701625
MIRT759364	hsa-miR-744-5p	PAR-CLIP	26701625
MIRT759508	hsa-miR-762	PAR-CLIP	26701625
MIRT759576	hsa-miR-765	PAR-CLIP	26701625
MIRT760274	hsa-miR-8089	PAR-CLIP	26701625
MIRT760769	hsa-miR-939-5p	PAR-CLIP	26701625

Gene ontology (GO)

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
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0005912	Component	Adherens junction	IDA	10225955
GO:0005912	Component	Adherens junction	NAS	12885915
GO:0006826	Process	Iron ion transport	IEA
GO:0006955	Process	Immune response	NAS	10932188
GO:0007155	Process	Cell adhesion	NAS	12764381
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA	21873635
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	21873635
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007411	Process	Axon guidance	IEA
GO:0015026	Function	Coreceptor activity	TAS	9616127
GO:0016020	Component	Membrane	TAS	9616127
GO:0016021	Component	Integral component of membrane	NAS	10932188
GO:0019062	Process	Virion attachment to host cell	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030425	Component	Dendrite	IEA
GO:0032584	Component	Growth cone membrane	IEA
GO:0034332	Process	Adherens junction organization	TAS
GO:0042802	Function	Identical protein binding	IPI	21982860, 22902367
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0043296	Component	Apical junction complex	IEA
GO:0044291	Component	Cell-cell contact zone	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046718	Process	Viral entry into host cell	NAS	12885915
GO:0046790	Function	Virion binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	IPI	12438620
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0070166	Process	Enamel mineralization	IEA
GO:0098609	Process	Cell-cell adhesion	NAS	12885915
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0099059	Component	Integral component of presynaptic active zone membrane	IEA
GO:1902414	Process	Protein localization to cell junction	IBA	21873635

Other IDs

• MIM: 600644
• HGNC: 9706
• e!Ensembl: ENSG00000110400

Protein

• 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: Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4. Has some neurite outgrowth-promoting activity. ; (Microbial infection) Acts as a receptor for herpes simplex virus 1/HHV-1, herpes simplex virus 2/HHV-2, and pseudorabies virus/PRV.
• 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

Pathways

KEGG:

Virion - Herpesvirus
Cell adhesion molecules
Adherens junction
Herpes simplex virus 1 infection

Reactome:

Adherens junctions interactions
Nectin/Necl trans heterodimerization

Associated diseases

Disease name	Disease term	References
	Alopecia
	Developmental absence of tooth
	Cleft Lip with or without Cleft Palate	10932188
	Zlotogora-Ogur syndrome	10932188, 11559849
	Cleft palate and bilateral cleft lip
	Congenital abnormality of Eustachian tube
	Congenital clubfoot
	Congenital exomphalos
	Deglutition Disorders
	Ectodermal Dysplasia
	Conductive hearing loss
	Hypodontia
	Hypogonadism
	Hypohidrosis
	Hypoplasia of the maxilla
	Macrodontia
	Macrotia
	Malnutrition
	Intellectual Disability
	Microdontia (disorder)
	Micrognathism
	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
	Nail dysplasia
	Obsessive-Compulsive Disorder	25158072
	Oropharyngeal Dysphagia
	OROFACIAL CLEFT 7
	Chronic otitis media
	Recurrent otitis media
	Palmoplantar Keratosis
	Situs inversus totalis
	Specific learning disability
	Speech Disorders
	Syndactyly of fingers
	Cutaneous finger syndactyly
	Syndactyly of the toes
	Cutaneous syndactyly of toes
	Synophrys
	Gilles de la Tourette syndrome	25158072
	Velopharyngeal Insufficiency