PLCH1 (phospholipase C eta 1)

2013-07-01  

Identity

HGNC
LOCATION
3q25.31
LOCUSID
ALIAS
PLC
FUSION GENES

Other Information

Locus ID:

NCBI: 23007
MIM: 612835
HGNC: 29185
Ensembl: ENSG00000114805

Variants:

dbSNP: 23007
ClinVar: 23007
TCGA: ENSG00000114805
COSMIC: PLCH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114805ENST00000334686Q4KWH8
ENSG00000114805ENST00000340059Q4KWH8
ENSG00000114805ENST00000447496Q4KWH8
ENSG00000114805ENST00000460012A0A2U3TZV8
ENSG00000114805ENST00000494598Q4KWH8

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Inositol phosphate metabolismKEGGhsa00562
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA26097CASRGenePathwayassociated
PA33759PRKCAGenePathwayassociated
PA33761PRKCBGenePathwayassociated
PA33766PRKCGGenePathwayassociated
PA33767PRKCHGenePathwayassociated
PA33768PRKCIGenePathwayassociated
PA33771PRKD1GenePathwayassociated
PA33775PRKCZGenePathwayassociated

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
157029722005Molecular cloning and characterization of a novel phospholipase C, PLC-eta.23
155838372005Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes.11
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
226588132013Association between polymorphisms in COMT, PLCH1, and CYP17A1, and non-small-cell lung cancer risk in Chinese nonsmokers.10
270894672016Expression profile of PLCζ, PAWP, and TR-KIT in association with fertilization potential, embryo development, and pregnancy outcomes in globozoospermic candidates for intra-cytoplasmic sperm injection and artificial oocyte activation.5
241230532014A canonical EF-loop directs Ca(2+) -sensitivity in phospholipase C-η2.3

Citation

Dessen P

PLCH1 (phospholipase C eta 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53447/plch1