Gene

plce1

ID
ZDB-GENE-061212-4
Name
phospholipase C, epsilon 1
Symbol
plce1 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to enable guanyl-nucleotide exchange factor activity and phosphatidylinositol phospholipase C activity. Acts upstream of or within glomerular basement membrane development. Is expressed in several structures, including brain; digestive system; muscle; notochord; and pronephric glomerulus. Human ortholog(s) of this gene implicated in nephrotic syndrome; nephrotic syndrome type 2; and nephrotic syndrome type 3. Orthologous to human PLCE1 (phospholipase C epsilon 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from Zhou et al., 2009
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Hinkes et al., 2006
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With plce1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
nephrotic syndrome type 3 Alliance Nephrotic syndrome, type 3 610725
Associated With plce1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000008 C2 domain
Domain IPR000159 Ras-associating (RA) domain
Domain IPR000909 Phosphatidylinositol-specific phospholipase C, X domain
Domain IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain
Domain IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
Domain IPR015359 Phosphoinositide-specific phospholipase C, EF-hand-like domain
Family IPR001192 Phosphoinositide phospholipase C family
Family IPR028398 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
Homologous_superfamily IPR011992 EF-hand domain pair
Homologous_superfamily IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
Homologous_superfamily IPR023578 Ras guanine nucleotide exchange factor domain superfamily
Homologous_superfamily IPR029071 Ubiquitin-like domain superfamily
Homologous_superfamily IPR035892 C2 domain superfamily
Domain Details Per Protein
Protein Length 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 C2 domain C2 domain superfamily EF-hand domain pair Phosphatidylinositol-specific phospholipase C, X domain Phosphoinositide phospholipase C family Phosphoinositide-specific phospholipase C, EF-hand-like domain Phospholipase C, phosphatidylinositol-specific, Y domain PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily Ras-associating (RA) domain Ras guanine nucleotide exchange factor domain superfamily Ras guanine-nucleotide exchange factors catalytic domain Ubiquitin-like domain superfamily
UniProtKB:F1RET1 2248
UniProtKB:R4GE01 1157
UniProtKB:C5H807 2248
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations