PLCH1 (phospholipase C eta 1)

2013-07-01 Affiliation

Identity

HGNC

PLCH1

LOCATION

3q25.31

LOCUSID

23007

ALIAS

PLC

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000114805	ENST00000334686	Q4KWH8
ENSG00000114805	ENST00000340059	Q4KWH8
ENSG00000114805	ENST00000447496	Q4KWH8
ENSG00000114805	ENST00000460012	A0A2U3TZV8
ENSG00000114805	ENST00000494598	Q4KWH8

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Inositol phosphate metabolism	KEGG	ko00562
Inositol phosphate metabolism	KEGG	hsa00562
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Inositol phosphate metabolism	REACTOME	R-HSA-1483249
Synthesis of IP3 and IP4 in the cytosol	REACTOME	R-HSA-1855204

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association
PA26097	CASR	Gene	Pathway	associated
PA33759	PRKCA	Gene	Pathway	associated
PA33761	PRKCB	Gene	Pathway	associated
PA33766	PRKCG	Gene	Pathway	associated
PA33767	PRKCH	Gene	Pathway	associated
PA33768	PRKCI	Gene	Pathway	associated
PA33771	PRKD1	Gene	Pathway	associated
PA33775	PRKCZ	Gene	Pathway	associated

References

Pubmed ID	Year	Title	Citations
33820834	2022	Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.	1
33820834	2022	Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.	1
27089467	2016	Expression 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.	19
27089467	2016	Expression 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.	19
24123053	2014	A canonical EF-loop directs Ca(2+) -sensitivity in phospholipase C-η2.	6
24123053	2014	A canonical EF-loop directs Ca(2+) -sensitivity in phospholipase C-η2.	6
22658813	2013	Association between polymorphisms in COMT, PLCH1, and CYP17A1, and non-small-cell lung cancer risk in Chinese nonsmokers.	12
22658813	2013	Association between polymorphisms in COMT, PLCH1, and CYP17A1, and non-small-cell lung cancer risk in Chinese nonsmokers.	12
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105
15583837	2005	Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes.	14
15702972	2005	Molecular cloning and characterization of a novel phospholipase C, PLC-eta.	30
15583837	2005	Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes.	14

Citation

Dessen P

PLCH1 (phospholipase C eta 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/gene/53447/gene-explorer/js/lib/favicon/manifest.json