NECTIN4 (nectin cell adhesion molecule 4)

Gene

• Entrez ID: 81607
• Gene name: Nectin cell adhesion molecule 4
• Gene symbol: NECTIN4
• Synonyms: EDSS1, LNIR, PRR4, PVRL4, nectin-4
• Chromosome: 1
• Chromosome location: 1q23.3
• Summary: This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1537044	G>A,C	Conflicting-interpretations-of-pathogenicity, not-provided	3 prime UTR variant, coding sequence variant, missense variant
rs267606991	C>T	Pathogenic	Missense variant, coding sequence variant
rs267606992	G>A	Pathogenic	Missense variant, coding sequence variant
rs387907014	G>C	Pathogenic	Coding sequence variant, missense variant
rs730880260	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307124	C>T	Pathogenic	Missense variant, coding sequence variant
rs1085307125	G>A	Pathogenic	Stop gained, coding sequence variant
rs1571153052	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT614817	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT614818	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT614819	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT614820	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT614821	hsa-miR-4775	HITS-CLIP	23824327
MIRT614822	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT614823	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT614824	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT614825	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT614826	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT731898	hsa-miR-31-3p	Luciferase reporter assay, Western blot	27507538
MIRT731899	hsa-miR-128-3p	Luciferase reporter assay, Western blot	27507538

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001618	Function	Virus receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	21982860, 22048310, 22902367, 23202587, 32296183
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IBA	21873635
GO:0005912	Component	Adherens junction	IDA	25468996
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA	21873635
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0034332	Process	Adherens junction organization	TAS
GO:0042802	Function	Identical protein binding	IPI	22902367
GO:0046718	Process	Viral entry into host cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 609607
• HGNC: 19688
• e!Ensembl: ENSG00000143217

Protein

• UniProt ID: Q96NY8
• Protein name: Nectin-4 (Ig superfamily receptor LNIR) (Nectin cell adhesion molecule 4) (Poliovirus receptor-related protein 4) [Cleaved into: Processed poliovirus receptor-related protein 4]
• Protein function: Seems to be involved in cell adhesion through trans-homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Does not act as receptor for alpha-herpesvirus entry into cells.; (Microbial infection) Acts as a receptor for measles virus.
• PDB: 4FRW, 4GJT, 4JJH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	35 → 146	Immunoglobulin V-set domain	Domain
  PF08205	C2-set_2	151 → 234	CD80-like C2-set immunoglobulin domain	Domain
  PF13927	Ig_3	256 → 319		Domain

• Sequence:

  MPLSLGAEMWGPEAWLLLLLLLASFTGRCPAGELETSDVVTVVLGQDAKLPCFYRGDSGE
  QVGQVAWARVDAGEGAQELALLHSKYGLHVSPAYEGRVEQPPPPRNPLDGSVLLRNAVQA
  DEGEYECRVSTFPAGSFQARLRLRVLVPPLPSLNPGPALEEGQGLTLAASCTAEGSPAPS
  VTWDTEVKGTTSSRSFKHSRSAAVTSEFHLVPSRSMNGQPLTCVVSHPGLLQDQRITHIL
  HVSFLAEASVRGLEDQNLWHIGREGAMLKCLSEGQPPPSYNWTRLDGPLPSGVRVDGDTL
  GFPPLTTEHSGIYVCHVSNEFSSRDSQVTVDVLDPQEDSGKQVDLVSASVVVVGVIAALL
  FCLLVVVVVLMSRYHRRKAQQMTQKYEEELTLTRENSIRRLHSHHTDPRSQPEESVGLRA
  EGHPDSLKDNSSCSVMSEEPEGRSYSTLTTVREIETQTELLSPGSGRAEEEEDQDEGIKQ
  AMNHFVQENGTLRAKPTGNGIYINGRGHLV

• Sequence length: 510