Homo sapiens Protein: PVRL1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-74535.7 | ||||||||||||||||||||||
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 | ENSP00000344974 | ||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF07686
PF00047 PF08205 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00406
SM00408 SM00409 |
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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_976030 | ||||||||||||||||||||||
HUGO | HGNC:9706 | ||||||||||||||||||||||
OMIM | 600644 | ||||||||||||||||||||||
CCDS | CCDS8425 | ||||||||||||||||||||||
HPRD | 07200 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF060231 AF196768 AF196769 AF196770 AF196771 AF196772 AF196773 AF196774 AF252867 AY029539 AY445577 AY445578 AY445580 AY445581 BC104948 BC113471 X76400 | ||||||||||||||||||||||
GenPept | AAC23798 AAG16648 AAG16649 AAI04949 AAI13472 AAK33124 AAR88250 AAR88252 CAA53980 | ||||||||||||||||||||||