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Aliases for PVRL1 Gene

Aliases for PVRL1 Gene

  • 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
  • HVEC 3 4
  • PRR1 3 4
  • HIgR 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) 6
  • Nectin 2
  • CLPED1 3
  • CD111 3
  • SK-12 3
  • PVRR1 3
  • HV1S 3
  • PVRR 3
  • OFC7 3
  • PRR 3
  • ED4 3

External Ids for PVRL1 Gene

Previous HGNC Symbols for PVRL1 Gene

  • HVEC
  • ED4

Previous GeneCards Identifiers for PVRL1 Gene

  • GC11M121534
  • GC11M121020
  • GC11M119542
  • GC11M119073
  • GC11M119046
  • GC11M119014
  • GC11M115451

Summaries for PVRL1 Gene

Entrez Gene Summary for PVRL1 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 PVRL1 Gene

PVRL1 (Poliovirus Receptor-Related 1 (Herpesvirus Entry Mediator C)) is a Protein Coding gene. Diseases associated with PVRL1 include cleft lip/palate-ectodermal dysplasia syndrome and zlotogora syndrome. Among its related pathways are PAK Pathway and Adherens junction. GO annotations related to this gene include protein homodimerization activity and virus receptor activity. An important paralog of this gene is PVRL3.

UniProtKB/Swiss-Prot for PVRL1 Gene

  • Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4. Functions as an entry receptor for herpes simplex virus and pseudorabies virus. Has some neurite outgrowth-promoting activity.

Gene Wiki entry for PVRL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PVRL1 Gene

Genomics for PVRL1 Gene

Regulatory Elements for PVRL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PVRL1 Gene

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

Genomic View for PVRL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PVRL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PVRL1 Gene

Proteins for PVRL1 Gene

  • Protein details for PVRL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15223-PVRL1_HUMAN
    Recommended name:
    Nectin-1
    Protein Accession:
    Q15223
    Secondary Accessions:
    • O75465
    • Q2M3D3
    • Q9HBE6
    • Q9HBW2

    Protein attributes for PVRL1 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 PVRL3/nectin-3 and with PVRL4/nectin-4. Interaction between PVRL1 and PVRL3 on the pre- and postsynaptic sites, respectively, initiates the formation of puncta adherentia junctions between axons and dendrites. Interacts (via cytoplasmic domain) with MLLT4/afadin (via PDZ domain); this interaction recruits PVRL1 to cadherin-based adherens junctions and provides a connection with the actin cytoskeleton. Interacts with integrin alphaV/beta3. Interacts with herpes simplex virus 1 (HHV-1), herpes simplex virus 2 (HHV-2), and pseudorabies virus (PRV) envelope glycoprotein D; functions as an entry receptor for these viruses.
    SequenceCaution:
    • Sequence=CAA53980.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PVRL1 Gene

    Alternative splice isoforms for PVRL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PVRL1 Gene

Proteomics data for PVRL1 Gene at MOPED

Post-translational modifications for PVRL1 Gene

  • Glycosylation at Asn36, Asn72, Asn139, Asn202, Asn286, Asn297, Asn307, and Asn332
  • Modification sites at PhosphoSitePlus

Other Protein References for PVRL1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Protein Products

No data available for DME Specific Peptides for PVRL1 Gene

Domains for PVRL1 Gene

Gene Families for PVRL1 Gene

HGNC:
  • C2SET :Immunoglobulin superfamily / C2-set domain containing
  • CD :CD molecules
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • VSET :Immunoglobulin superfamily / V-set domain containing

Protein Domains for PVRL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15223

UniProtKB/Swiss-Prot:

PVRL1_HUMAN :
  • Q15223
Domain:
  • Ig-like C2-type 2 mediates neurite outgrowth through binding, induction of phosphorylation, and activation of FGFR.
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
Family:
  • Belongs to the nectin family.
genes like me logo Genes that share domains with PVRL1: view

Function for PVRL1 Gene

Molecular function for PVRL1 Gene

UniProtKB/Swiss-Prot Function: Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between PVRL1/nectin-1 and PVRL3/nectin-3 and between PVRL1/nectin-1 and PVRL4/nectin-4. Functions as an entry receptor for herpes simplex virus and pseudorabies virus. Has some neurite outgrowth-promoting activity.

Gene Ontology (GO) - Molecular Function for PVRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0004872 receptor activity --
GO:0005515 protein binding IPI 21982860
GO:0015026 coreceptor activity TAS 9616127
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with PVRL1: view
genes like me logo Genes that share phenotypes with PVRL1: view

Animal Models for PVRL1 Gene

MGI Knock Outs for PVRL1:

Animal Model Products

CRISPR Products

miRNA for PVRL1 Gene

miRTarBase miRNAs that target PVRL1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PVRL1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PVRL1 Gene

Localization for PVRL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PVRL1 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
Jensen Localization Image for PVRL1 Gene COMPARTMENTS Subcellular localization image for PVRL1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PVRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005912 adherens junction NAS 12885915
GO:0005913 cell-cell adherens junction IDA 10225955
GO:0016020 membrane TAS 9616127
genes like me logo Genes that share ontologies with PVRL1: view

Pathways for PVRL1 Gene

genes like me logo Genes that share pathways with PVRL1: view

Pathways by source for PVRL1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PVRL1 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 PVRL1: view

Compounds for PVRL1 Gene

(5) Novoseek inferred chemical compound relationships for PVRL1 Gene

Compound -log(P) Hits PubMed IDs
heparan sulfate 47.2 6
12-o-tetradecanoylphorbol 13-acetate 30.8 3
gtp 7.63 2
tyrosine 5.53 3
calcium 3.61 5
genes like me logo Genes that share compounds with PVRL1: view

Transcripts for PVRL1 Gene

Unigene Clusters for PVRL1 Gene

Poliovirus receptor-related 1 (herpesvirus entry mediator C):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PVRL1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PVRL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PVRL1 Gene

No ASD Table

Relevant External Links for PVRL1 Gene

GeneLoc Exon Structure for
PVRL1
ECgene alternative splicing isoforms for
PVRL1

Expression for PVRL1 Gene

mRNA expression in normal human tissues for PVRL1 Gene

mRNA differential expression in normal tissues according to GTEx for PVRL1 Gene

This gene is overexpressed in Esophagus - Mucosa (8.4), Skin - Not Sun Exposed (Suprapubic) (6.3), and Skin - Sun Exposed (Lower leg) (5.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PVRL1 Gene

SOURCE GeneReport for Unigene cluster for PVRL1 Gene Hs.334846

genes like me logo Genes that share expressions with PVRL1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PVRL1 Gene

Orthologs for PVRL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PVRL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRR1 36
  • 75 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HVEC 36
  • 96 (a)
OneToOne
PVRL1 35
  • 92.82 (n)
  • 95.73 (a)
dog
(Canis familiaris)
Mammalia PRR1 36
  • 97 (a)
OneToOne
PVRL1 35
  • 92.05 (n)
  • 97.09 (a)
mouse
(Mus musculus)
Mammalia Pvrl1 35
  • 90.61 (n)
  • 94.95 (a)
Pvrl1 16
Pvrl1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PVRL1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PVRL1 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pvrl1 35
  • 90.36 (n)
  • 95.15 (a)
chicken
(Gallus gallus)
Aves LOC100857875 35
  • 74.22 (n)
  • 72.85 (a)
PVRL1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PVRL1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pvrl1 35
  • 64.03 (n)
  • 64.55 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9728 35
zebrafish
(Danio rerio)
Actinopterygii pvrl1a 36
  • 50 (a)
OneToMany
pvrl1b 36
  • 53 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToMany
Species with no ortholog for PVRL1:
  • 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 PVRL1 Gene

ENSEMBL:
Gene Tree for PVRL1 (if available)
TreeFam:
Gene Tree for PVRL1 (if available)

Paralogs for PVRL1 Gene

Paralogs for PVRL1 Gene

Selected SIMAP similar genes for PVRL1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PVRL1: view

Variants for PVRL1 Gene

Sequence variations from dbSNP and Humsavar for PVRL1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs15942 -- 119,661,350(-) GCCAA(A/C)ACTGC utr-variant-3-prime, intron-variant
rs715849 -- 119,705,014(+) TGCTA(A/G)GAAGA intron-variant
rs885429 -- 119,701,861(-) GAGCC(A/C)GTGAG intron-variant
rs885430 -- 119,701,731(-) TGAGA(C/T)CTGGA intron-variant
rs906818 -- 119,662,519(+) TGGGG(A/C)CTTCA utr-variant-3-prime, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PVRL1 Gene

Variant ID Type Subtype PubMed ID
nsv509445 CNV Insertion 20534489
nsv898419 CNV Loss 21882294
nsv898420 CNV Loss 21882294
nsv898421 CNV Loss 21882294
nsv898422 CNV Loss 21882294
nsv513336 CNV Insertion 21212237
esv2661826 CNV Deletion 23128226
nsv898423 CNV Loss 21882294
nsv468880 CNV Loss 19166990
esv2745129 CNV Deletion 23290073
esv2745131 CNV Deletion 23290073

Relevant External Links for PVRL1 Gene

HapMap Linkage Disequilibrium report
PVRL1
Human Gene Mutation Database (HGMD)
PVRL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PVRL1 Gene

Disorders for PVRL1 Gene

(1) OMIM Diseases for PVRL1 Gene (600644)

UniProtKB/Swiss-Prot

PVRL1_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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PVRL1 Gene

(13) Novoseek inferred disease relationships for PVRL1 Gene

Disease -log(P) Hits PubMed IDs
herpes simplex 79.5 29
pseudorabies 72.1 6
cleft palate 55 2
herpes 53.3 11
cleft lip 43.4 5

Relevant External Links for PVRL1

Genetic Association Database (GAD)
PVRL1
Human Genome Epidemiology (HuGE) Navigator
PVRL1
genes like me logo Genes that share disorders with PVRL1: view

Publications for PVRL1 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 23
  2. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. (PMID: 10932188) Suzuki K. … Spritz R.A. (Nat. Genet. 2000) 3 4 23
  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 23
  4. Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate. (PMID: 16122939) Turhani D. … Ewers R. (J Craniomaxillofac Surg 2005) 3 23 48
  5. Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. (PMID: 16674562) Scapoli L. … Carinci F. (Ann. Hum. Genet. 2006) 3 23 48

Products for PVRL1 Gene

Sources for PVRL1 Gene

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