• Gene id: 5818

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 (119729199: 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 immunoglobu

SNPs

rs34605051

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.86466703T>C
NC_000002.11   g.86693826T>C
NG_047167.1   g.31057T>C
NM_018433.6   c.1339T>C
NM_018433.5   c.1339T>C
NM_001146688.1   c.1339T>C
XM_006712051.4   c.-637T>C
XM_024452995.1   c.1339T>C
XM_024452994.1   c.1339T>C
XM_017004494.1   c.484T>C
XM_02  

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: 57158
• Sequence:

  MARMGLAGAAGRWWGLALGLTAFFLPGVHSQVVQVNDSMYGFIGTDVVLHCSFANPLPSVKITQVTWQKSTNGSK
  QNVAIYNPSMGVSVLAPYRERVEFLRPSFTDGTIRLSRLELEDEGVYICEFATFPTGNRESQLNLTVMAKPTNWI
  EGTQAVLRAKKGQDDKVLVATCTSANGKPPSVVSWETRLKGEAEYQEIRNPNGTVTVISRYRLVPSREAHQQSLA
  CIVNYHMDRFKESLTLNVQYEPEVTIEGFDGNWYLQRMDVKLTCKADANPPATEYHWTTLNGSLPKGVEAQNRTL
  FFKGPINYSLAGTYICEATNPIGTRSGQVEVNITEFPYTPSPPEHGRRAGPVPTAIIGGVAGSILLVLIVVGGIV
  VALRRRRHTFKGDYSTKKHVYGNGYSKAGIPQHHPPMAQNLQYPDDSDDEKKAGPLGGSSYEEEEEEEEGGGGGE
  RKVGGPHPKYDEDAKRPYFTVDEAEARQDGYGDRTLGYQYDPEQLDLAENMVSQNDGSFISKKEWYV

• Structural information:
  • Protein Domains: (31..14-)
    (/note="Ig-like-V-type)
    (149..23-)
    1 (/note="Ig-like-C2-type)
    (247..33-)
    2" (/note="Ig-like-C2-type)
  • Interpro: IPR013162  IPR007110  IPR036179  IPR013783  IPR003599   IPR003598  IPR013106  IPR041849  IPR041850  IPR033314  
  • Prosite: PS50835
  • CDD: cd05886 cd05890
  • PDB: 3ALP 3SKU 3U82 3U83 4FMF 4MYW
  • PDBsum: 3ALP 3SKU 3U82 3U83 4FMF 4MYW
  • DIP: 40302
  • STRING: ENSP00000264025
• Other Databases: GeneCards:  NECTIN1  Malacards:  NECTIN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	ISS	biological process
GO:0005912	adherens junction	IBA	cellular component
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:1902414	protein localization to cell junction	IBA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0019062	virion attachment to host cell	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0050839	cell adhesion molecule binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0001618	virus receptor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015026	coreceptor activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
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:0034332	adherens junction organization	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0032584	growth cone membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0043296	apical junction complex	IEA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA	biological process
GO:0006826	iron ion transport	IEA	biological process
GO:0005912	adherens junction	IEA	cellular component
GO:0046790	virion binding	IEA	molecular function
GO:0046718	viral entry into host cell	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0007411	axon guidance	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1902414	protein localization to cell junction	IEA	biological process
GO:0099059	integral component of presynaptic active zone membrane	IEA	cellular component
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0070166	enamel mineralization	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0044291	cell-cell contact zone	IEA	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0002934	desmosome organization	IEA	biological process
GO:0002089	lens morphogenesis in camera-type eye	IEA	biological process
GO:0050839	cell adhesion molecule binding	IPI	molecular function
GO:0005912	adherens junction	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098609	cell-cell adhesion	NAS	biological process
GO:0046718	viral entry into host cell	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005912	adherens junction	NAS	cellular component
GO:0007155	cell adhesion	NAS	biological process
GO:0006955	immune response	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa04514	Cell adhesion molecules
hsa04520	Adherens junction

Diseases

Associated diseases	References
Cleft lip and/or cleft palate	KEGG:H00516
Cleft lip and/or cleft palate	KEGG:H00516
Ectodermal dysplasia	PMID:10932188
cleft palate	PMID:10932188
Cleft lip	PMID:10932188
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq