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Aliases for NECTIN1 Gene

Aliases for NECTIN1 Gene

  • Nectin Cell Adhesion Molecule 1 2 3 4 5
  • Poliovirus Receptor-Related 1 (Herpesvirus Entry Mediator C) 2 3
  • Poliovirus Receptor-Related Protein 1 3 4
  • Herpes Virus Entry Mediator C 3 4
  • Herpesvirus Ig-Like Receptor 3 4
  • PVRL1 3 4
  • HVEC 3 4
  • HIgR 3 4
  • PRR1 3 4
  • Ectodermal Dysplasia 4 (Margarita Island Type) 3
  • Herpes Simplex Virus Type 1 Sensitivity 3
  • Herpesvirus Entry Mediator C 4
  • Poliovirus Receptor-Like 1 3
  • CD111 Antigen 4
  • Nectin 1 3
  • Nectin-1 3
  • Nectin 2
  • CLPED1 3
  • CD111 3
  • PVRR1 3
  • SK-12 3
  • HV1S 3
  • OFC7 3
  • PVRR 3
  • PRR 3
  • ED4 3

External Ids for NECTIN1 Gene

Previous HGNC Symbols for NECTIN1 Gene

  • HVEC
  • ED4
  • PVRL1

Summaries for NECTIN1 Gene

Entrez Gene Summary for NECTIN1 Gene

  • 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]

GeneCards Summary for NECTIN1 Gene

NECTIN1 (Nectin Cell Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with NECTIN1 include Cleft Lip/Palate-Ectodermal Dysplasia Syndrome and Herpes Simplex. Among its related pathways are Natural Killer Cell Receptors: Human Target Cell – NK Cell Ligand-Receptor Interactions and Cell junction organization. An important paralog of this gene is NECTIN3.

UniProtKB/Swiss-Prot for NECTIN1 Gene

  • 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.

Gene Wiki entry for NECTIN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NECTIN1 Gene

Genomics for NECTIN1 Gene

Regulatory Elements for NECTIN1 Gene

Enhancers for NECTIN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G119690 1.8 FANTOM5 Ensembl ENCODE dbSUPER 2.5 +32.6 32595 12.6 PKNOX1 ZFP64 ARID4B ZNF48 FOS SP5 TBX21 SMARCA4 RCOR2 GLIS1 CCDC153 NECTIN1 TRIM29 LOC105369525 RNU6-1123P
GH11G119683 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +43.6 43613 4.7 CTCF JUN ZIC2 FOSL1 ZFHX2 ZNF316 GATA2 FOS MAFK EGR2 NECTIN1 TRIM29 LOC105369525 RNU6-1123P
GH11G119725 1.5 FANTOM5 ENCODE dbSUPER 0.7 +0.8 764 5.3 ATF1 ARNT SIN3A ZNF48 ETS1 GLIS2 GATA2 ZNF143 ZNF207 FOS LOC102724301 USP2 NECTIN1 GC11P119714
GH11G119723 0.9 dbSUPER 0.7 +5.0 4963 1.0 HDGF ATF1 PKNOX1 TCF12 ZNF766 GATA2 CBX5 FOS CAVIN1 JUNB LOC102724301 HMBS NECTIN1 GC11P119714
GH11G119722 1.1 Ensembl ENCODE dbSUPER 0.4 +6.5 6484 0.4 BHLHE40 NR2F1 MNT GATAD2B DPF2 CREB3 IKZF1 RELB SPI1 NECTIN1 GC11P119714
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NECTIN1 on UCSC Golden Path with GeneCards custom track

Promoters for NECTIN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000045832 284 2801 ATF1 ARNT SIN3A ZNF48 GATA2 ZNF143 ZNF207 FOS SP3 MXD4

Genomic Location for NECTIN1 Gene

Chromosome:
11
Start:
119,623,408 bp from pter
End:
119,729,084 bp from pter
Size:
105,677 bases
Orientation:
Minus strand

Genomic View for NECTIN1 Gene

Genes around NECTIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NECTIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NECTIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NECTIN1 Gene

Proteins for NECTIN1 Gene

  • Protein details for NECTIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15223-NECT1_HUMAN
    Recommended name:
    Nectin-1
    Protein Accession:
    Q15223
    Secondary Accessions:
    • O75465
    • Q2M3D3
    • Q9HBE6
    • Q9HBW2

    Protein attributes for NECTIN1 Gene

    Size:
    517 amino acids
    Molecular mass:
    57158 Da
    Quaternary structure:
    • Interacts (via Ig-like C2-type domain 2) with FGFR1, FGFR2 and FGFR3 (By similarity). Cis- and trans-homodimer. Can form trans-heterodimers with NECTIN3 and with NECTIN4. Interaction between NECTIN1 and NECTIN3 on the pre- and postsynaptic sites, respectively, initiates the formation of puncta adherentia junctions between axons and dendrites. Interacts (via cytoplasmic domain) with AFDN (via PDZ domain); this interaction recruits NECTIN1 to cadherin-based adherens junctions and provides a connection with the actin cytoskeleton. Interacts with integrin alphaV/beta3.
    • (Microbial infection) Interacts with herpes simplex virus 1/HHV-1, herpes simplex virus 2/HHV-2, and pseudorabies virus/PRV envelope glycoprotein D (PubMed:21980294, PubMed:22146396, PubMed:9696799, PubMed:9657005).
    SequenceCaution:
    • Sequence=CAA53980.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NECTIN1 Gene

    Alternative splice isoforms for NECTIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NECTIN1 Gene

Post-translational modifications for NECTIN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NECTIN1 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NECTIN1

No data available for DME Specific Peptides for NECTIN1 Gene

Domains & Families for NECTIN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15223

UniProtKB/Swiss-Prot:

NECT1_HUMAN :
  • Ig-like C2-type 2 mediates neurite outgrowth through binding, induction of phosphorylation, and activation of FGFR.
  • Belongs to the nectin family.
Domain:
  • Ig-like C2-type 2 mediates neurite outgrowth through binding, induction of phosphorylation, and activation of FGFR.
Family:
  • Belongs to the nectin family.
genes like me logo Genes that share domains with NECTIN1: view

Function for NECTIN1 Gene

Molecular function for NECTIN1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for herpes simplex virus 1/HHV-1, herpes simplex virus 2/HHV-2, and pseudorabies virus/PRV.

Gene Ontology (GO) - Molecular Function for NECTIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0004872 receptor activity IEA --
GO:0005102 receptor binding IBA --
GO:0005515 protein binding IPI 11277703
GO:0015026 coreceptor activity TAS 9616127
genes like me logo Genes that share ontologies with NECTIN1: view
genes like me logo Genes that share phenotypes with NECTIN1: view

Human Phenotype Ontology for NECTIN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NECTIN1 Gene

MGI Knock Outs for NECTIN1:

Animal Model Products

miRNA for NECTIN1 Gene

miRTarBase miRNAs that target NECTIN1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NECTIN1 Gene

Localization for NECTIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NECTIN1 Gene

Isoform Alpha: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, presynaptic cell membrane.
Isoform Delta: Cell membrane; Single-pass type I membrane protein.
Isoform Gamma: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NECTIN1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NECTIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0005912 adherens junction NAS 12885915
GO:0005913 cell-cell adherens junction IDA 10225955
genes like me logo Genes that share ontologies with NECTIN1: view

Pathways & Interactions for NECTIN1 Gene

genes like me logo Genes that share pathways with NECTIN1: view

Pathways by source for NECTIN1 Gene

Gene Ontology (GO) - Biological Process for NECTIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002089 lens morphogenesis in camera-type eye IEA --
GO:0002934 desmosome organization IEA --
GO:0006826 iron ion transport IEA --
GO:0006955 immune response NAS 10932188
GO:0007155 cell adhesion NAS 12764381
genes like me logo Genes that share ontologies with NECTIN1: view

No data available for SIGNOR curated interactions for NECTIN1 Gene

Drugs & Compounds for NECTIN1 Gene

(3) Drugs for NECTIN1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CMX001 Investigational Pharma Broad spectrum antiviral drug 0

(3) Additional Compounds for NECTIN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for NECTIN1 Gene

Compound Action Cas Number
CMX001 Broad spectrum antiviral drug 444805-28-1
genes like me logo Genes that share compounds with NECTIN1: view

Drug Products

Transcripts for NECTIN1 Gene

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NECTIN1 Gene

No ASD Table

Relevant External Links for NECTIN1 Gene

GeneLoc Exon Structure for
NECTIN1
ECgene alternative splicing isoforms for
NECTIN1

Expression for NECTIN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NECTIN1 Gene:

NECTIN1

Evidence on tissue expression from TISSUES for NECTIN1 Gene

  • Nervous system(4.7)
  • Bone marrow(4.2)
  • Liver(4.1)
  • Skin(2.7)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NECTIN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • breast
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • sweat gland
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NECTIN1 Gene

Orthologs for NECTIN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NECTIN1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia PRR1 35
  • 97 (a)
OneToOne
PVRL1 34
  • 92.05 (n)
cow
(Bos Taurus)
Mammalia HVEC 35
  • 96 (a)
OneToOne
PVRL1 34
  • 92.82 (n)
mouse
(Mus musculus)
Mammalia Pvrl1 34 35
  • 90.61 (n)
Nectin1 16
rat
(Rattus norvegicus)
Mammalia Pvrl1 34
  • 90.36 (n)
oppossum
(Monodelphis domestica)
Mammalia PVRL1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PVRL1 35
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRR1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857875 34
  • 74.22 (n)
PVRL1 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PVRL1 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pvrl1 34
  • 64.03 (n)
zebrafish
(Danio rerio)
Actinopterygii pvrl1b 35
  • 53 (a)
OneToMany
pvrl1a 35
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9728 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 17 (a)
OneToMany
Species where no ortholog for NECTIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NECTIN1 Gene

ENSEMBL:
Gene Tree for NECTIN1 (if available)
TreeFam:
Gene Tree for NECTIN1 (if available)

Paralogs for NECTIN1 Gene

Paralogs for NECTIN1 Gene

genes like me logo Genes that share paralogs with NECTIN1: view

Variants for NECTIN1 Gene

Sequence variations from dbSNP and Humsavar for NECTIN1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs104894281 Pathogenic 119,677,734(-) ATCCT(A/G)GGAAA reference, stop-gained
rs876657374 Pathogenic 119,677,732(-) CCTGG(-/G)AAACT reference, frameshift-variant
rs878853255 Pathogenic 119,675,192(-) TCGGT(-/T)ACACG reference, frameshift-variant
rs753988307 Benign 119,664,970(+) TCCTC(-/CCT)ATAGC intron-variant, cds-indel
rs1000022474 -- 119,681,396(+) CATGC(A/G)TGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NECTIN1 Gene

Variant ID Type Subtype PubMed ID
esv2661826 CNV deletion 23128226
esv2745129 CNV deletion 23290073
esv2745131 CNV deletion 23290073
esv3627893 CNV loss 21293372
esv3627894 CNV loss 21293372
nsv1037739 CNV gain 25217958
nsv1051769 CNV gain 25217958
nsv1070071 CNV deletion 25765185
nsv468880 CNV loss 19166990
nsv509445 CNV insertion 20534489
nsv513336 CNV insertion 21212237
nsv556471 CNV loss 21841781

Variation tolerance for NECTIN1 Gene

Residual Variation Intolerance Score: 28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NECTIN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NECTIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NECTIN1 Gene

Disorders for NECTIN1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for NECTIN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cleft lip/palate-ectodermal dysplasia syndrome
  • orofacial cleft 7
herpes simplex
  • herpesvirus hominis disease
cleft lip/palate
  • alveolar cleft lip and palate
cleft lip and alveolus
isolated cleft lip
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NECT1_HUMAN
  • Ectodermal dysplasia, Margarita Island type (EDMI) [MIM:225060]: An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. {ECO:0000269 PubMed:10932188}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Non-syndromic orofacial cleft 7 (OFC7) [MIM:225060]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO:0000269 PubMed:10932188}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NECTIN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NECTIN1
genes like me logo Genes that share disorders with NECTIN1: view

No data available for Genatlas for NECTIN1 Gene

Publications for NECTIN1 Gene

  1. Entry of alphaherpesviruses mediated by poliovirus receptor-related protein 1 and poliovirus receptor. (PMID: 9616127) Geraghty R.J. … Spear P.G. (Science 1998) 2 3 4 22 64
  2. Interaction of integrin alpha(v)beta3 with nectin. Implication in cross-talk between cell-matrix and cell-cell junctions. (PMID: 16679515) Sakamoto Y. … Takai Y. (J. Biol. Chem. 2006) 3 4 22 64
  3. Nectin4/PRR4, a new afadin-associated member of the nectin family that trans-interacts with nectin1/PRR1 through V domain interaction. (PMID: 11544254) Reymond N. … Lopez M. (J. Biol. Chem. 2001) 3 4 22 64
  4. cDNA characterization and chromosomal localization of a gene related to the poliovirus receptor gene. (PMID: 7721102) Lopez M. … Dubreuil P. (Gene 1995) 2 3 4 64
  5. Structure of herpes simplex virus glycoprotein D bound to the human receptor nectin-1. (PMID: 21980294) Di Giovine P. … Carfi A. (PLoS Pathog. 2011) 3 4 64

Products for NECTIN1 Gene

Sources for NECTIN1 Gene

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