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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PVRL1 Gene

protein-coding GIFtS: 66
GCID: GC11M119542

poliovirus receptor-related 1 (herpesvirus entry mediator...

(Previous symbols: HVEC, ED4)

Explore 28 diseases affiliated with
PVRL1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Poliovirus Receptor-Related 1 (Herpesvirus Entry Mediator C)¹ ²		Herpesvirus Ig-Like Receptor² ³
HVEC¹ ² ³ ⁵		PVRR²
PRR1¹ ² ³ ⁵		Ectodermal Dysplasia 4 (Margarita Island Type)²
HIgR¹ ² ³		Nectin 1²
CLPED1¹ ² ⁵		Nectin-1³
ED4¹ ² ⁵		Poliovirus Receptor-Like 1²
OFC7¹ ² ⁵		Poliovirus Receptor-Related Protein 1²
PVRR1¹ ² ⁵		HveC³
CD111¹ ²		Nectin-1³
PRR¹ ²		CD111 Antigen³
SK-12¹ ²		Herpesvirus Entry Mediator C³
Herpes Virus Entry Mediator C² ³

External Ids:	HGNC: 9706¹	Entrez Gene: 5818²	Ensembl: ENSG00000110400⁷	OMIM: 600644⁵	UniProtKB: Q15223³

Export aliases for PVRL1 gene to outside databases

Previous GC identifers: GC11M121534 GC11M121020 GC11M119073 GC11M119046 GC11M119014 GC11M115451

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PVRL1:

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)

UniProtKB/Swiss-Prot: PVRL1_HUMAN, Q15223

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

Gene Wiki entry for PVRL1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PVRL1 gene promoter:
ATF-2 POU3F1 HNF-4alpha2 HNF-4alpha1 c-Ets-1 CRE-BP1 CREB deltaCREB ARP-1 Chx10
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PVRL1 promoter sequence

Search SABiosciences Chromatin IP Primers for PVRL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PVRL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23-q24

PVRL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PVRL1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M119542: view genomic region (about GC identifiers)

Start:	119,494,120 bp from pter	End:	119,599,794 bp from pter
Size:	105,675 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PVRL1_HUMAN, Q15223 (See protein sequence)

Recommended Name: Poliovirus receptor-related protein 1 precursor

Size: 517 amino acids; 57158 Da

Subunit: Can form trans-heterodimers with PVRL3/nectin-3 and with PVRL4/nectin-4. Interacts (via C-terminus) with

afadin (via PDZ domain); this interaction recruits PVRL1 to cadherin-based adherens junctions. 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

Subcellular location: Isoform Alpha: Cell membrane; Single-pass type I membrane protein

Subcellular location: Isoform Delta: Cell membrane; Single-pass type I membrane protein

Subcellular location: Isoform Gamma: Secreted

Sequence caution: Sequence=CAA53980.2; Type=Erroneous initiation;

5 PDB 3D structures from and Proteopedia for PVRL1:

3ALP (3D)

3SKU (3D)

3U82 (3D)

3U83 (3D)

4FMF (3D)

Secondary accessions: O75465 Q2M3D3 Q9HBE6 Q9HBW2

Alternative splicing: 3 isoforms: Q15223-1 Q15223-2 Q15223-3

Explore the universe of human proteins at neXtProt for PVRL1: NX_Q15223

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q15223

PVRL1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_002846.3 NP_976030.1 NP_976031.1

ENSEMBL proteins:

ENSP00000344974 ENSP00000264025 ENSP00000345289

Reactome Protein details: Q15223
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for PVRL1 (Nectin-1)
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	OriGene Purified Protein: PVRL1 OriGene Protein Over-expression Lysate (see all 3): PVRL1 OriGene Custom Protein Services for PVRL1
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	Novus Biologicals PVRL1 Proteins Novus Biologicals PVRL1 Lysates
	Sino Biological Recombinant Protein for PVRL1
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PVRL1

Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001950	plasma membrane enriched fraction	--	--
GO:0005576	extracellular region	IEA	--
GO:0005792	microsome	--	--
GO:0005886	plasma membrane	TAS	--
GO:0005912	adherens junction	NAS	12885915

PVRL1 for ontologies About GeneDecksing

PVRL1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PVRL1
	R&D Systems Antibodies for PVRL1 (Nectin-1)
	OriGene Antibodies (see all 4): PVRL1 OriGene Custom Antibody Services for PVRL1
	GenScript Custom Superior Antibodies Services for PVRL1
	Novus Biologicals PVRL1 Antibodies
	Search for Antibodies for PVRL1 at Abcam
	Uscn Antibodies for PVRL1
	ThermoFisher Antibodies for PVRL1

Assay Products for PVRL1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PVRL1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PVRL1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PVRL1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR013162 CD80_C2-set

IPR003596 Ig_V-set_subgr

IPR013783 Ig-like_fold

IPR013106 Ig_V-set

IPR007110 Ig-like_dom

Graphical View of Domain Structure for InterPro Entry Q15223

ProtoNet protein and cluster: Q15223

2 Blocks protein families:

IPB003596 Immunoglobulin V-type

IPB013106 Immunoglobulin V-set

UniProtKB/Swiss-Prot: PVRL1_HUMAN, Q15223

Similarity: Belongs to the nectin family

Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains

Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PVRL1_HUMAN, Q15223

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

miRNA Products:		miRTarBase miRNAs that target PVRL1: hsa-mir-661 (MIRT004550)

		OriGene 3'-UTR Clone (see all 2): PVRL1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PVRL1
		8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate PVRL1 (see all 80):
		hsa-miR-124* hsa-miR-642a hsa-miR-4254 hsa-miR-15a hsa-miR-4267 hsa-miR-1273d hsa-miR-3142 hsa-miR-629*

		SwitchGear 3'UTR luciferase reporter plasmid: PVRL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PVRL1 (see all 4) OriGene shRNA RFP: PVRL1 OriGene siRNA: PVRL1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PVRL1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PVRL1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PVRL1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PVRL1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): PVRL1 (NM_203285)
		Sino Biological Human cDNA Clone for PVRL1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PVRL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PVRL1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PVRL1
		Search LifeMap BioReagents cell lines for PVRL1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PVRL1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0005515	protein binding	IPI	--
GO:0015026	coreceptor activity	TAS	9616127
GO:0030246	carbohydrate binding	--	--
GO:0042803	protein homodimerization activity	ISS	--

PVRL1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for PVRL1:

Increased HDAC inhibitor resis

Animal Models:
Mouse knock-outs for PVRL1: Pvrl1^tm1Ytk Pvrl1^tm1Mjd
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Pvrl1):

behavior/neurological	craniofacial	growth/size	homeostasis/metabolism	integument
mortality/aging	vision/eye

PVRL1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell-cell junction organization

	Cell-cell junction organization	1.00			Adherens junctions interactions	0.51
	Cell junction organization	0.69			Cell-Cell communication	0.45

Cell adhesion Tight junctions

Cell adhesion Tight junctions

1.00

Cell adhesion_Tight junctions

0.99

Nectin/Necl trans heterodimerization

Nectin/Necl trans heterodimerization

1.00

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

1.00

Nectin adhesion pathway

Nectin adhesion pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PVRL1

Cell adhesion Tight junctions

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PVRL1

	Sertoli-Sertoli Cell Junction Dynamics
	Epithelial Adherens Junctions

1 GeneGo (Thomson Reuters) Pathway for PVRL1

Cell adhesion Tight junctions

1 BioSystems Pathway for PVRL1

Nectin adhesion pathway

5 Reactome Pathways for PVRL1

	Adherens junctions interactions
	Nectin/Necl trans heterodimerization
	Cell junction organization
	Cell-Cell communication
	Cell-cell junction organization

2 Kegg Pathways (Kegg details for PVRL1):

	Cell adhesion molecules (CAMs)
	Adherens junction

PVRL1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PVRL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/19 Interacting proteins for PVRL1 (Q15223^{1, 2, 3} ENSP00000264025⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PVRL3	Q9NQS3¹^,²^,³, ENSP00000418070⁴	EBI-1771314,EBI-2826725 MINT-49748 I2D: score=3 STRING: ENSP00000418070
PVRL4	Q96NY8¹^,²^,³, ENSP00000356991⁴	EBI-1771314,EBI-4314784 MINT-49749 I2D: score=2 STRING: ENSP00000356991
MLLT4	P55196²^,³, ENSP00000383623⁴	MINT-58185 MINT-58421 I2D: score=3 STRING: ENSP00000383623
PARD3	Q8TEW0³, ENSP00000363921⁴	I2D: score=4 STRING: ENSP00000363921
PVR	P15151³, ENSP00000402060⁴	I2D: score=2 STRING: ENSP00000402060

About this table

Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table

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

PVRL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PVRL1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PVRL1
5 Novoseek chemical compound relationships for PVRL1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
heparan sulfate	47.2	6	12915538 (2), 18803666 (1), 15273289 (1), 16940509 (1) (see all 5)
12-o-tetradecanoylphorbol 13-acetate	30.8	5	15836772 (2), 10583506 (1)
gtp	7.63	2	15485841 (1), 15504743 (1)
tyrosine	5.53	4	15485841 (1), 19196253 (1), 10962558 (1)
calcium	3.61	5	17525764 (4), 10583506 (1)

Search CenterWatch for drugs/clinical trials and news about PVRL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PVRL1 gene (4 alternative transcripts):

NM_002855.4 NM_203285.1 NM_203286.1 NM_032767.1

Unigene Cluster for PVRL1:

Poliovirus receptor-related 1 (herpesvirus entry mediator C)

Hs.334846 [show with all ESTs]

Unigene Representative Sequence: NM_002855

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000531468 ENST00000341398(uc001pwu.1) ENST00000264025(uc001pwv.3 uc001pww.3)

ENST00000524429 ENST00000340882 ENST00000532197 ENST00000524510

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PVRL1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PVRL1
		8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate PVRL1 (see all 80):
		hsa-miR-124* hsa-miR-642a hsa-miR-4254 hsa-miR-15a hsa-miR-4267 hsa-miR-1273d hsa-miR-3142 hsa-miR-629*

		SwitchGear 3'UTR luciferase reporter plasmid: PVRL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PVRL1 (see all 4) OriGene shRNA RFP: PVRL1 OriGene siRNA: PVRL1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PVRL1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PVRL1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PVRL1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): PVRL1 (NM_203285)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PVRL1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PVRL1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PVRL1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PVRL1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PVRL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PVRL1

Additional cDNA sequence:

AF060231.1 AF110314.1 AK056455.1 AK091231.1 AK095375.1 AY029539.1 BC007379.2 BC021976.2

BC044230.2 BC064140.1 BC086309.1 BC104948.1 BC113471.1 X76400.2

12 DOTS entries:

DT.453399 DT.95264877 DT.95264879 DT.75141634 DT.95307631 DT.116425 DT.100814104 DT.120716814

DT.95307628 DT.97777518 DT.91910166 DT.99977409

24/225 AceView cDNA sequences (see all 225):

BE326637 BF036447 Z38424 BQ941721 AW366292 AI298771 BU957401 T30207

BE673384 AI889978 BU634070 BG260985 BQ188335 T31604 AA450359 NM_002855

AA443796 AY029539 AA447786 CA311421 BM709077 AI359046 BQ689558 BU732536

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PVRL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGCTTCCTCT

About this image

PVRL1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Trachea

Basal Cells

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PVRL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PVRL1

SOURCE GeneReport for Unigene cluster: Hs.334846

SABiosciences Expression via Pathway-Focused PCR Arrays including PVRL1:

Adherens Junctions in human mouse rat

Cell Junction PathwayFinder in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PVRL1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PVRL1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PVRL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PVRL1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PVRL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for PVRL1 gene from 3/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC100857875¹	poliovirus receptor-related protein 1-like	75(n) 74.4(a)		100857875 XM_003642591.1 XP_003642639.1
lizard (Anolis carolinensis)	Reptilia	PVRL1⁶	--	71(a)	1 ↔ 1	LGa(477486-479306)
zebrafish (Danio rerio)	Actinopterygii	CABZ01045128.1⁶ pvrl1a⁶ (see all 6)	poliovirus receptor-related 1a (see all 6)	54(a) 50(a) (see all 6)	1 ↔ many 1 ↔ many (see all 6)	18(41556150-41562341) 21(21704559-21750244)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PVRL1 gene

CADM3² CADM4² PVR² CRTAM² CADM1² PVRL2² PVRL4² CADM2²

PVRL3²

2 SIMAP similar genes for PVRL1 using alignment to 6 protein entries: PVRL1_HUMAN (see all proteins):

PVRL3 PVRL2

PVRL1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894281^1,2	C	pathogenic	117883545(-)	`ATCCTA/GGGAAA`	6	* W	stg¹		0	--	--	--	--
rs77140244^1,2	C,	--	115451425(+)	`AGGTGC/TTCAAT`	1	--	int¹		2		WA	120
rs11300332^1,2	C,F,	--	115451931(+)	`CCTCA-/GGGGTC`	1	--	int¹		3		NA CSA	10
rs117434119^1,2	C,F,	--	115452090(+)	`CAGGGC/TGGGCA`	1	--	int¹		1		NA	120
rs28489831^1,2	F,	--	115452266(+)	`CTGATG/ACGAAA`	1	--	int¹		1		WA	118
rs79976568^1,2		--	115452473(+)	`GTCAAC/TGGCTG`	1	--	int¹		1		EA	120
rs112109871^1,2	F	--	115452966(+)	`GGCTTG/TTCTGG`	2	E D	mis¹		2		CSA	4
rs73571279^1,2	C,F,	--	115453155(+)	`CTCCTC/GTAGTT`	1	--	int¹		4		WA CSA	123
rs35729926^1,2	C,	--	115454163(+)	`GTGGCC/TGCCTT`	1	--	int¹		2		NA	122
rs2089647^1,2	C,	--	115454886(+)	`tcaccG/Atgtta`	1	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for PVRL1 (119494120 - 119599794 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PVRL1
1 CNV: 86055
Human Gene Mutation Database (HGMD): PVRL1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PVRL1

DNA2.0 Custom Variant and Variant Library Synthesis for PVRL1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PVRL1 for disorders           About GeneDecksing

OMIM gene information: 600644
OMIM disorders: 225060
UniProtKB/Swiss-Prot: PVRL1_HUMAN, Q15223

Defects in PVRL1 are the cause of ectodermal dysplasia Margarita Island type (EDMI) [MIM:225060]; also known

as Zlotogora-Ogur syndrome, cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) or ectodermal dysplasia 4.

Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal

structures. EDMI is an autosomal recessive 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

Defects in PVRL1 are the cause of non-syndromic orofacial cleft type 7 (OFC7) [MIM:225060]. Non-syndromic

orofacial cleft is a common 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

20/28 diseases for PVRL1 (see all 28): About MalaCards

cleft lip/palate ectodermal dysplasia cleft lip herpes simplex

cleft palate cleft lip/palate ectodermal dysplasia syndrome zlotogora-ogur syndrome orofacial cleft 7

orofacial cleft chronic mucocutaneous candidiasis birth defects candidiasis

acute myeloid leukemia neuronitis myeloid leukemia ulcerative colitis

syndactyly squamous cell carcinoma adult syndrome microphthalmia

3 diseases from the University of Copenhagen DISEASES database for PVRL1:

Cleft lip Herpes simplex Cleft palate

10/13 Novoseek disease relationships for PVRL1 gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
herpes simplex	79.5	47	9861033 (2), 12915538 (2), 12885915 (2), 15731277 (2) (see all 25)
pseudorabies	72.1	13	17872513 (1), 15534229 (1), 11437670 (1), 11531408 (1) (see all 6)
cleft palate	55	2	16674562 (1), 18356023 (1)
herpes	53.3	11	17164781 (4), 17327376 (2), 16000587 (2), 18803666 (1) (see all 6)
cleft lip	43.4	5	16122939 (1), 19715471 (1), 16674562 (1), 19408722 (1) (see all 5)
carcinoma squamous cell	2.71	4	17525764 (2), 16879022 (1), 17164781 (1)
tumors	1	11	17164781 (3), 16879022 (2), 17525764 (1), 16947118 (1) (see all 8)
virus infection	0	3	12885915 (1), 17005657 (1), 19161552 (1)
neurological disorders	0	2	18005714 (1), 16599187 (1)
dysplasia	0	2	16879022 (1), 10932188 (1)

Genetic Association Database (GAD): PVRL1
Human Genome Epidemiology (HuGE) Navigator: PVRL1 (13 documents)

Export disorders for PVRL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PVRL1 gene, integrated from 9 sources (see all 174):
(articles sorted by number of sources associating them with PVRL1)

Utopia: connect your pdf to the dynamic
world of online information

Entry of alphaherpesviruses mediated by poliovirus receptor-related protein 1 and poliovirus receptor. (PubMed id 9616127)^{1, 2, 3, 9} Geraghty R.J....Spear P.G. (1998)
cDNA characterization and chromosomal localization of a gene related to the poliovirus receptor gene. (PubMed id 7721102)^{1, 2, 3} Lopez M....Dubreuil P. (1995)
Interaction of integrin alpha(v)beta3 with nectin. Implication in cross-talk between cell-matrix and cell-cell junctions. (PubMed id 16679515)^{1, 2, 9} Sakamoto Y....Takai Y. (2006)
Nectin4/PRR4, a new afadin-associated member of the nectin family that trans-interacts with nectin1/PRR1 through V domain interaction. (PubMed id 11544254)^{1, 2, 9} Reymond N.... Lopez M. (2001)
Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate. (PubMed id 16122939)^{1, 4, 9} Turhani D....Ewers R. (2005)
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. (PubMed id 10932188)^{1, 2, 9} Suzuki K.... Spritz R.A. (2000)
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. (PubMed id 16247549)^{1, 4} Ichikawa E....Yoshiura K. (2006)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Novel, soluble isoform of the herpes simplex virus (HSV) receptor nectin1 (or prr1-HIgR-Hvec) modulates positively and negatively susceptibility to hsv infection. (PubMed id 11356977)^{1, 2} Lopez M.... Dubreuil P. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5818	HGNC: 9706	AceView: PVRL1	Ensembl:ENSG00000110400	euGenes: HUgn5818
ECgene: PVRL1	Kegg: 5818	H-InvDB: PVRL1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PVRL1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PVRL1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PVRL1 gene:
Search GeneIP for patents involving PVRL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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poliovirus receptor-related 1 (herpesvirus entry mediator...

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PVRL1 (Gene Symbol)
Poliovirus Receptor-Related 1 (Herpesvirus Entry Mediator C)
HVEC
PRR1
HIgR
CLPED1
ED4
OFC7
PVRR1
CD111
PRR
SK-12
Herpes Virus Entry Mediator C
Herpesvirus Ig-Like Receptor
PVRR
Ectodermal Dysplasia 4 (Margarita Island Type)
Nectin 1
Nectin-1
Poliovirus Receptor-Like 1
Poliovirus Receptor-Related Protein 1
HveC
Nectin-1
CD111 Antigen
Herpesvirus Entry Mediator C

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PVRL1 Gene

poliovirus receptor-related 1 (herpesvirus entry mediator...

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