Human Gene PLCB4 (ENST00000378501.3) from GENCODE V44
Description: 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. (from UniProt Q15147) RefSeq Summary (NM_001377135): The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]. Gencode Transcript: ENST00000378501.3 Gencode Gene: ENSG00000101333.19 Transcript (Including UTRs) Position: hg38 chr20:9,067,825-9,481,242 Size: 413,418 Total Exon Count: 38 Strand: + Coding Region Position: hg38 chr20:9,307,815-9,479,009 Size: 171,195 Coding Exon Count: 36
ID:PLCB4_HUMAN DESCRIPTION: RecName: Full=1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4; EC=3.1.4.11; AltName: Full=Phosphoinositide phospholipase C-beta-4; AltName: Full=Phospholipase C-beta-4; Short=PLC-beta-4; 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. CATALYTIC ACTIVITY: 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol. COFACTOR: Calcium. TISSUE SPECIFICITY: Preferentially expressed in the retina. DISEASE: Defects in PLCB4 are the cause of auriculocondylar syndrome type 2 (ARCND2) [MIM:614669]. ARCND2 is an autosomal dominant 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. SIMILARITY: Contains 1 C2 domain. SIMILARITY: Contains 1 PI-PLC X-box domain. SIMILARITY: Contains 1 PI-PLC Y-box domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00168 - C2 domain PF06631 - Protein of unknown function (DUF1154) PF09279 - Phosphoinositide-specific phospholipase C, efhand-like PF00388 - Phosphatidylinositol-specific phospholipase C, X domain PF00387 - Phosphatidylinositol-specific phospholipase C, Y domain
ModBase Predicted Comparative 3D Structure on Q15147
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
