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 immunoglobu

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

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: 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