Homo sapiens Protein: PVRL4 | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||
InnateDB Protein | IDBP-104174.4 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | PVRL4 | ||||||||||||||||||
Protein Name | poliovirus receptor-related 4 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000356991 | ||||||||||||||||||
InnateDB Gene | IDBG-104172 (PVRL4) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Seems to be involved in cell adhesion through trans- homophilic and -heterophilic interactions, the latter including specifically interactions with PVRL2/nectin-1. Does not act as receptor for alpha-herpesvirus entry into cells. | ||||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, adherens junction {ECO:0000269PubMed:11544254}. Note=Colocalizes with MLLT4 at cadherin-based adherens junctions.Processed poliovirus receptor-related protein 4: Secreted. Note=The secreted form is found in breast tumor patients. | ||||||||||||||||||
Disease Associations | Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) [MIM:613573]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg- shaped and conical crowns. Patients have normal sweating. {ECO:0000269PubMed:20691405}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Predominantly expressed in placenta. Not detected in normal breast epithelium but expressed in breast carcinoma. {ECO:0000269PubMed:11544254, ECO:0000269PubMed:17474988}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR003598
Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013098 Immunoglobulin I-set IPR013106 Immunoglobulin V-set domain IPR013151 Immunoglobulin IPR013162 CD80-like, immunoglobulin C2-set |
||||||||||||||||||
PFAM |
PF07679
PF07686 PF00047 PF08205 |
||||||||||||||||||
PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00408
SM00409 |
||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q96NY8 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q96NY8 | ||||||||||||||||||
TrEMBL | K4PZ75 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 81607 | ||||||||||||||||||
UniGene | Hs.492490 | ||||||||||||||||||
RefSeq | NP_112178 | ||||||||||||||||||
HUGO | HGNC:19688 | ||||||||||||||||||
OMIM | 609607 | ||||||||||||||||||
CCDS | CCDS1216 | ||||||||||||||||||
HPRD | 17934 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB755430 AF426163 AK027753 AL591806 BC010423 CH471121 | ||||||||||||||||||
GenPept | AAH10423 AAL23958 BAB55344 BAM65001 CAI15376 EAW52665 | ||||||||||||||||||