Gene
plch1
- ID
- ZDB-GENE-060503-398
- Name
- phospholipase C, eta 1
- Symbol
- plch1 Nomenclature History
- Previous Names
-
- si:ch211-203b20.8
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable phosphatidylinositol phospholipase C activity. Predicted to be involved in phosphatidylinositol metabolic process; phosphatidylinositol-mediated signaling; and release of sequestered calcium ion into cytosol. Predicted to act upstream of or within intracellular signal transduction and lipid catabolic process. Predicted to be active in cytoplasm. Is expressed in brain and liver. Human ortholog(s) of this gene implicated in holoprosencephaly. Orthologous to human PLCH1 (phospholipase C eta 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Jelen et al., 2007
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Holoprosencephaly 14 | 619895 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR000008 | C2 domain |
| Domain | IPR000909 | Phosphatidylinositol-specific phospholipase C, X domain |
| Domain | IPR001711 | Phospholipase C, phosphatidylinositol-specific, Y domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR015359 | Phosphoinositide-specific phospholipase C, EF-hand-like domain |
| Domain | IPR028392 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1, catalytic domain |
| Domain | IPR046972 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1, EF-hand motif |
| Family | IPR001192 | Phosphoinositide phospholipase C family |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR017946 | PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily |
| Homologous_superfamily | IPR035892 | C2 domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1, catalytic domain | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1, EF-hand motif | C2 domain | C2 domain superfamily | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | PH-like domain superfamily | 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 | Pleckstrin homology domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PMN2 | InterPro | 1753 | ||||||||||||||
| UniProtKB:A0A8M6Z2T4 | InterPro | 980 | ||||||||||||||
| UniProtKB:A0A8M9PFX4 | InterPro | 1765 | ||||||||||||||
| UniProtKB:A0A8M9PPN9 | InterPro | 1735 | ||||||||||||||
| UniProtKB:A0A8M9P1F6 | InterPro | 1795 | ||||||||||||||
| UniProtKB:A0A8M9PVZ6 | InterPro | 1715 | ||||||||||||||
| UniProtKB:A0A8M9PAI3 | InterPro | 1775 | ||||||||||||||
| UniProtKB:A0A8M6YTQ9 | InterPro | 979 |
Interactions and Pathways
No data available
Plasmids
No data available