2. Gene
  3. PLCH1 - phospholipase C eta 1 Gene

PLCH1 - phospholipase C eta 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HPE14; PLCL3; PLC-L3; PLC eta 1

Gene ID: 23007 | Gene type: protein coding

About PLCH1

Cytogenetic location: 3q25.31 Genomic coordinates (GRCh38): 3:155,450,934-155,745,071 (from NCBI)

This gene has 6 transcripts (splice variants), 218 orthologues, 14 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 4.0), thyroid (RPKM 1.7) and 9 other tissues.

Summary

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]

PLCH1 Products(6)

mRNA Protein Name
NM_001130960.2 NP_001124432.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 isoform a
NM_001130961.2 NP_001124433.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 isoform c
NM_001349250.2 NP_001336179.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 isoform c
NM_001349251.2 NP_001336180.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 isoform d
NM_001349252.2 NP_001336181.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 isoform e
NM_014996.4 NP_055811.2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables calcium-dependent phospholipase C activity IDA
IDA: Inferred from direct assay
15702972 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within phosphatidylinositol-mediated signaling IDA
IDA: Inferred from direct assay
15702972 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
15702972 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLCH1 Protein Structure

EF-hand_7

EF-hand_7: EF-hand domain pair (148 - 208)

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (216 - 298)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (301 - 445)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (600 - 713)

C2

C2: C2 domain (735 - 825)

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  • 1693 a.a.
Protein Preferred Names Protein Names

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1

PLC-eta-1

Related Diseases

Diseases Alias
Holoprosencephaly 14

HPE14
Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10662 PLCH1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PLCH1 RGD RGD:1561991
Felis catus PLCH1 VGNC VGNC:64210
Mus musculus PLCH1 MGD MGI:2683547
Macaca mulatta PLCH1 VGNC VGNC:76132
Canis familiaris PLCH1 VGNC VGNC:44653
Bos taurus PLCH1 VGNC VGNC:32990