PLCH1 Gene Summary [Human]

PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]

Details

Type
Protein Coding
Official Symbol
PLCH1
Official Name
phospholipase C eta 1 [Source:HGNC Symbol;Acc:HGNC:29185]
Ensembl ID
ENSG00000114805
Bio databases IDs NCBI: 23007 Ensembl: ENSG00000114805
Aliases phospholipase C eta 1, 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1
Synonyms FLJ12548, HPE14, phospholipase C eta 1, phospholipase C, eta 1, PLC-eta-1, PLC-L3, RGD1561991
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PLCH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Phosphatidylinositol-specific phospholipase C, Y domain
  • EF-hand, calcium binding motif
  • EF-hand domain pair
  • EFh
  • enzyme
  • Pleckstrin homology-like domain
  • phosphoinositide-specific phospholipase C-like phosphodiesterase catalytic domain
  • EFh_PI-PLC
  • calcium-dependent phospholipase C
  • phosphoinositide phospholipase C
  • Phosphatidylinositol-specific phospholipase C, X domain
  • Phospholipase C, catalytic domain (part: domain X)
  • Phosphoinositide-specific phospholipase C, efhand-like
  • EF hand
  • Phospholipase C, catalytic domain (part: domain Y)
  • Protein kinase C conserved region 2 (CalB)
  • Pleckstrin homology domain
  • C2 domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • colorectal cancer
  • insomnia
  • idiopathic scoliosis
  • Alzheimer disease
  • melanoma cancer
  • holoprosencephaly 14
  • melanoma
regulated by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • intracellular membrane-bounded organelle
  • cellular membrane
  • Plasma Membrane
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PLCH1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • phosphatidylinositol-mediated signaling
  • lipid catabolic process
  • phosphatidylinositol metabolic process
  • release of sequestered calcium ion into cytosol

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • intracellular membrane-bounded organelle
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • phosphatidylinositol phospholipase C activity
  • calcium ion binding
  • calcium-dependent phospholipase C activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.