Homo sapiens Protein: PLCB4 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-52931.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | PLCB4 | ||||||||||||||||||||||
Protein Name | phospholipase C, beta 4 | ||||||||||||||||||||||
Synonyms | ARCND2; PI-PLC; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000367754 | ||||||||||||||||||||||
InnateDB Gene | IDBG-52923 (PLCB4) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This form has a role in retina signal transduction. | ||||||||||||||||||||||
Subcellular Localization | |||||||||||||||||||||||
Disease Associations | Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]: A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. {ECO:0000269PubMed:22560091}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Preferentially expressed in the retina. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 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 |
IPR000008
C2 domain IPR000909 Phospholipase C, phosphatidylinositol-specific , X domain IPR001192 Phosphoinositide phospholipase C family IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain IPR009535 Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta, conserved site IPR015359 Phospholipase C, phosphoinositol-specific, EF-hand-like IPR016280 Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain |
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PFAM |
PF00168
PF00388 PF00387 PF06631 PF09279 |
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PRINTS |
PR00360
PR00390 |
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PIRSF |
PIRSF000956
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SMART |
SM00239
SM00148 SM00149 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q15147 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q15147 | ||||||||||||||||||||||
TrEMBL | B1AJW4 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 5332 | ||||||||||||||||||||||
UniGene | Hs.592658 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:9059 | ||||||||||||||||||||||
OMIM | 600810 | ||||||||||||||||||||||
CCDS | CCDS13105 | ||||||||||||||||||||||
HPRD | 02885 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AL023805 AL031652 AL121898 AL121909 BC117458 BC143868 L41349 | ||||||||||||||||||||||
GenPept | AAB02027 AAI17459 AAI43869 CAI42213 CAI42218 CAI43087 CAI43092 | ||||||||||||||||||||||