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 have guanyl-nucleotide exchange factor activity and phosphatidylinositol phospholipase C activity. Involved in glomerular basement membrane development. Human ortholog(s) of this gene implicated in nephrotic syndrome; nephrotic syndrome type 2; and nephrotic syndrome type 3. Is expressed in several structures, including brain; digestive system; muscle; notochord; and pronephric glomerulus. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 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
Domain	IPR028398	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, RA domain 2
Domain	IPR046973	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, catalytic domain
Domain	IPR046974	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, EF-hand domain
Family	IPR001192	Phosphoinositide phospholipase C family
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
Homologous_superfamily	IPR036964	Ras guanine-nucleotide exchange factor, catalytic domain superfamily

Domain Details Per Protein

Protein	Length	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, catalytic domain	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, EF-hand domain	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, RA domain 2	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 domain	Ras guanine-nucleotide exchange factor, catalytic domain superfamily	Ras guanine nucleotide exchange factor domain superfamily	Ras guanine-nucleotide exchange factors catalytic domain	Ubiquitin-like domain superfamily
UniProtKB:C5H807 InterPro	2248
UniProtKB:A0A8M9QED9 InterPro	2280
UniProtKB:A0A8M9Q8J1 InterPro	2288
UniProtKB:A0A8M9PWG9 InterPro	2289
UniProtKB:A0A8M9QIU6 InterPro	2262
UniProtKB:A0A8M9Q8J6 InterPro	1878
UniProtKB:A0A8M9QML6 InterPro	2275
UniProtKB:A0A8M9QEE4 InterPro	2265
UniProtKB:A0A8M9PWH5 InterPro	2248