Homo sapiens Protein: PVRL1
Summary
InnateDB Protein IDBP-74537.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PVRL1
Protein Name poliovirus receptor-related 1 (herpesvirus entry mediator C)
Synonyms CD111; CLPED1; ED4; HIgR; HV1S; HVEC; nectin-1; OFC7; PRR; PRR1; PVRR; PVRR1; SK-12;
Species Homo sapiens
Ensembl Protein ENSP00000264025
InnateDB Gene IDBG-74533 (PVRL1)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:21980294, ECO:0000269PubMed:7721102}.
Subcellular Localization Isoform Alpha: Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, presynaptic cell membrane {ECO:0000250}.Isoform Delta: Cell membrane; Single-pass type I membrane protein.Isoform Gamma: Secreted.
Disease Associations 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.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001618 virus receptor activity
GO:0004872 receptor activity
GO:0005515 protein binding
GO:0015026 coreceptor activity
GO:0030246 carbohydrate binding
GO:0042803 protein homodimerization activity
GO:0046790 virion binding
GO:0046982 protein heterodimerization activity
GO:0050839 cell adhesion molecule binding
Biological Process
GO:0002089 lens morphogenesis in camera-type eye
GO:0002934 desmosome organization
GO:0006826 iron ion transport
GO:0006955 immune response
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion
GO:0007157 heterophilic cell-cell adhesion
GO:0007165 signal transduction
GO:0007411 axon guidance
GO:0009615 response to virus
GO:0016337 single organismal cell-cell adhesion
GO:0034329 cell junction assembly
GO:0034332 adherens junction organization
GO:0045216 cell-cell junction organization
GO:0046718 viral entry into host cell
GO:0048593 camera-type eye morphogenesis
GO:0051963 regulation of synapse assembly
GO:0060041 retina development in camera-type eye
GO:0070166 enamel mineralization
Cellular Component
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005913 cell-cell adherens junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016342 catenin complex
GO:0030424 axon
GO:0032584 growth cone membrane
GO:0042734 presynaptic membrane
GO:0043005 neuron projection
GO:0043231 intracellular membrane-bounded organelle
GO:0045202 synapse
Protein Structure and Domains
PDB ID
InterPro IPR003596 Immunoglobulin V-set, subgroup
IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
IPR013106 Immunoglobulin V-set domain
IPR013151 Immunoglobulin
IPR013162 CD80-like, immunoglobulin C2-set
PFAM PF07686
PF00047
PF08205
PRINTS
PIRSF
SMART SM00406
SM00408
SM00409
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q15223
PhosphoSite PhosphoSite-Q15223
TrEMBL Q6SYC2
UniProt Splice Variant
Entrez Gene 5818
UniGene Hs.618202
RefSeq NP_002846
HUGO HGNC:9706
OMIM 600644
CCDS CCDS8426
HPRD 07200
IMGT
EMBL AF060231 AF196768 AF196769 AF196770 AF196771 AF196772 AF196773 AF196774 AF252867 AY029539 AY445577 AY445578 BC104948 BC113471 X76400
GenPept AAC23798 AAG16648 AAG16649 AAI04949 AAI13472 AAK33124 AAR88250 CAA53980