Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
51196 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Phospholipase C epsilon 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
PLCE1 |
SynonymsGene synonyms aliases
|
NPHS3, PLCE, PPLC |
ChromosomeChromosome number
|
10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q23.33 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate va |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121912601 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs121912602 |
C>G,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
rs121912604 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs121912605 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs267606954 |
C>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
rs267606955 |
C>A,G,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant, missense variant |
rs752029771 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs762245091 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs775052849 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant |
rs876657369 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
rs876657370 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs895782232 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1589413498 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1589433172 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1589509476 |
T>G |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
miRNAmiRNA information provided by mirtarbase database.
|
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9P212 |
Protein name |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 (EC 3.1.4.11) (Pancreas-enriched phospholipase C) (Phosphoinositide phospholipase C-epsilon-1) (Phospholipase C-epsilon-1) (PLC-epsilon-1) |
Protein 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. PLCE1 is a bifunctional enzyme which also regulates smal |
PDB |
2BYE
,
2BYF
,
2C5L
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00617 |
RasGEF |
534 → 762 |
RasGEF domain |
Family |
PF09279 |
EF-hand_like |
1323 → 1381 |
Phosphoinositide-specific phospholipase C, efhand-like |
Domain |
PF00388 |
PI-PLC-X |
1394 → 1541 |
Phosphatidylinositol-specific phospholipase C, X domain |
Family |
PF00387 |
PI-PLC-Y |
1740 → 1844 |
Phosphatidylinositol-specific phospholipase C, Y domain |
Family |
PF00168 |
C2 |
1870 → 1971 |
C2 domain |
Domain |
PF00788 |
RA |
2135 → 2238 |
Ras association (RalGDS/AF-6) domain |
Domain |
|
Sequence |
|
Sequence length |
2302 |
Interactions |
View interactions |