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Gene id

5818

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

NECTIN1 Gene UCSC Ensembl

Aliases

CD111, CLPED1, ED4, HIgR, HV1S, HVEC, OFC7, PRR, PRR1, PVRL1, PVRR, PVRR1, SK-12, nectin-1

Gene name

nectin cell adhesion molecule 1

Alternate names

nectin-1, ectodermal dysplasia 4 (Margarita Island type), herpes simplex virus type 1 sensitivity, herpes virus entry mediator C, herpesvirus Ig-like receptor, nectin 1, poliovirus receptor-like 1, poliovirus receptor-related 1 (herpesvirus entry mediator C), pol,

Gene location

11q23.3 (119728724: 119638097) Exons: 10 NC_000011.10

Gene summary(Entrez)

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]

OMIM

600644

Protein Summary

Protein general information

Q15223

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)

Length: 517 Mass: 57,158

Sequence

MARMGLAGAAGRWWGLALGLTAFFLPGVHSQVVQVNDSMYGFIGTDVVLHCSFANPLPSVKITQVTWQKSTNGSK
QNVAIYNPSMGVSVLAPYRERVEFLRPSFTDGTIRLSRLELEDEGVYICEFATFPTGNRESQLNLTVMAKPTNWI
EGTQAVLRAKKGQDDKVLVATCTSANGKPPSVVSWETRLKGEAEYQEIRNPNGTVTVISRYRLVPSREAHQQSLA
CIVNYHMDRFKESLTLNVQYEPEVTIEGFDGNWYLQRMDVKLTCKADANPPATEYHWTTLNGSLPKGVEAQNRTL
FFKGPINYSLAGTYICEATNPIGTRSGQVEVNITEFPYTPSPPEHGRRAGPVPTAIIGGVAGSILLVLIVVGGIV
VALRRRRHTFKGDYSTKKHVYGNGYSKAGIPQHHPPMAQNLQYPDDSDDEKKAGPLGGSSYEEEEEEEEGGGGGE
RKVGGPHPKYDEDAKRPYFTVDEAEARQDGYGDRTLGYQYDPEQLDLAENMVSQNDGSFISKKEWYV

Structural information

Protein Domains	Ig-like (31-141) Ig-like (149-238) Ig-like (247-334)
Interpro:	IPR013162 IPR007110 IPR013783 IPR003599 IPR003598 IPR013106 IPR033314
Prosite:	PS50835
Pfam:	PF08205 PF07686
PDB:	3ALP 3SKU 3U82 3U83 4FMF 4MYW
PDBsum:	3ALP 3SKU 3U82 3U83 4FMF 4MYW
DIP:	40302
MINT:	90873
STRING:	ENSP00000264025;

Other Databases

GeneCards: NECTIN1; Malacards: NECTIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001618	virus receptor activity	IEA	molecular_function
GO:0002089	lens morphogenesis in cam era-type eye	IEA	biological_process
GO:0002934	desmosome organization	IEA	biological_process
GO:0005102	receptor binding	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0005912	adherens junction	NAS	cellular_component
GO:0005913	cell-cell adherens juncti on	IDA	cellular_component
GO:0006826	iron ion transport	IEA	biological_process
GO:0006955	immune response	NAS	biological_process
GO:0007155	cell adhesion	NAS	biological_process
GO:0007156	homophilic cell adhesion via plasma membrane adhes ion molecules	ISS	biological_process
GO:0007156	homophilic cell adhesion via plasma membrane adhes ion molecules	IBA	biological_process
GO:0007157	heterophilic cell-cell ad hesion via plasma membran e cell adhesion molecules	ISS	biological_process
GO:0007157	heterophilic cell-cell ad hesion via plasma membran e cell adhesion molecules	IBA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0008037	cell recognition	IBA	biological_process
GO:0015026	coreceptor activity	TAS	molecular_function
GO:0016020	membrane	TAS	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016337	single organismal cell-ce ll adhesion	NAS	biological_process
GO:0016342	catenin complex	IEA	cellular_component
GO:0030246	carbohydrate binding	IEA	molecular_function
GO:0030424	axon	IEA	cellular_component
GO:0032584	growth cone membrane	IEA	cellular_component
GO:0034332	adherens junction organiz ation	TAS	biological_process
GO:0042734	presynaptic membrane	IEA	cellular_component
GO:0042803	protein homodimerization activity	ISS	molecular_function
GO:0042803	protein homodimerization activity	IBA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0046718	viral entry into host cel l	NAS	biological_process
GO:0046790	virion binding	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0050839	cell adhesion molecule bi nding	IPI	molecular_function
GO:0051963	regulation of synapse ass embly	IEA	biological_process
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0070166	enamel mineralization	IEA	biological_process
GO:0001618	virus receptor activity	IEA	molecular_function
GO:0002089	lens morphogenesis in cam era-type eye	IEA	biological_process
GO:0002934	desmosome organization	IEA	biological_process
GO:0004872	receptor activity	IEA	molecular_function
GO:0005102	receptor binding	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0005912	adherens junction	IEA	cellular_component
GO:0005912	adherens junction	NAS	cellular_component
GO:0005913	cell-cell adherens juncti on	IEA	cellular_component
GO:0005913	cell-cell adherens juncti on	IDA	cellular_component
GO:0006826	iron ion transport	IEA	biological_process
GO:0006955	immune response	NAS	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	NAS	biological_process
GO:0007156	homophilic cell adhesion via plasma membrane adhes ion molecules	IEA	biological_process
GO:0007156	homophilic cell adhesion via plasma membrane adhes ion molecules	ISS	biological_process
GO:0007156	homophilic cell adhesion via plasma membrane adhes ion molecules	IBA	biological_process
GO:0007157	heterophilic cell-cell ad hesion via plasma membran e cell adhesion molecules	IEA	biological_process
GO:0007157	heterophilic cell-cell ad hesion via plasma membran e cell adhesion molecules	ISS	biological_process
GO:0007157	heterophilic cell-cell ad hesion via plasma membran e cell adhesion molecules	IBA	biological_process
GO:0007165	signal transduction	IEA	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0008037	cell recognition	IBA	biological_process
GO:0015026	coreceptor activity	TAS	molecular_function
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	TAS	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0016337	single organismal cell-ce ll adhesion	IEA	biological_process
GO:0016337	single organismal cell-ce ll adhesion	NAS	biological_process
GO:0016342	catenin complex	IEA	cellular_component
GO:0030054	cell junction	IEA	cellular_component
GO:0030246	carbohydrate binding	IEA	molecular_function
GO:0030424	axon	IEA	cellular_component
GO:0032584	growth cone membrane	IEA	cellular_component
GO:0034332	adherens junction organiz ation	TAS	biological_process
GO:0042734	presynaptic membrane	IEA	cellular_component
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0042803	protein homodimerization activity	ISS	molecular_function
GO:0042803	protein homodimerization activity	IBA	molecular_function
GO:0043005	neuron projection	IEA	cellular_component
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0045202	synapse	IEA	cellular_component
GO:0045202	synapse	IEA	cellular_component
GO:0045202	synapse	IEA	cellular_component
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0046718	viral entry into host cel l	IEA	biological_process
GO:0046718	viral entry into host cel l	NAS	biological_process
GO:0046790	virion binding	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048593	camera-type eye morphogen esis	IEA	biological_process
GO:0050839	cell adhesion molecule bi nding	IEA	molecular_function
GO:0050839	cell adhesion molecule bi nding	IPI	molecular_function
GO:0051963	regulation of synapse ass embly	IEA	biological_process
GO:0051963	regulation of synapse ass embly	IEA	biological_process
GO:0060041	retina development in cam era-type eye	IEA	biological_process
GO:0070166	enamel mineralization	IEA	biological_process
GO:0005102	receptor binding	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IBA	cellular_component
GO:0005912	adherens junction	NAS	cellular_component
GO:0005913	cell-cell adherens juncti on	IDA	cellular_component
GO:0006955	immune response	NAS	biological_process
GO:0007155	cell adhesion	NAS	biological_process
GO:0007156	homophilic cell adhesion via plasma membrane adhes ion molecules	ISS	biological_process
GO:0007156	homophilic cell adhesion via plasma membrane adhes ion molecules	IBA	biological_process
GO:0007157	heterophilic cell-cell ad hesion via plasma membran e cell adhesion molecules	ISS	biological_process
GO:0007157	heterophilic cell-cell ad hesion via plasma membran e cell adhesion molecules	IBA	biological_process
GO:0008037	cell recognition	IBA	biological_process
GO:0015026	coreceptor activity	TAS	molecular_function
GO:0016020	membrane	TAS	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0016337	single organismal cell-ce ll adhesion	NAS	biological_process
GO:0034332	adherens junction organiz ation	TAS	biological_process
GO:0042803	protein homodimerization activity	ISS	molecular_function
GO:0042803	protein homodimerization activity	IBA	molecular_function
GO:0046718	viral entry into host cel l	NAS	biological_process
GO:0050839	cell adhesion molecule bi nding	IPI	molecular_function

KEGG pathways

hsa05168  Herpes simplex infection
hsa04514  Cell adhesion molecules
hsa04520  Adherens junction

Diseases

Associated diseases	References
Cleft lip	OMIM: 600644
Endometriosis	PMID: 22926846
Isolated orofacial clefts	KEGG: H00516
Oral clefts	OMIM: 600644
Endometriosis	INFBASE22926846

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22926846	Endometrio sis			75 (55 women un dergoing endome trial biopsy or surgery for en dometriosis (20 proliferative endometrium fro m women with en dometriosis, pr oliferative end ometrium from w omen without en dometriosis, 20 peritoneal end ometriosis, 20 ovarian endomet riosis, 20 colo		Nectin-1 -3 -4 and Necl-2	Show abstract