PLCZ1 (phospholipase C zeta 1)

2007-04-01  

Identity

HGNC
PLCZ1
LOCATION
12p12.3
LOCUSID
89869
ALIAS
NYD-SP27,PLC-zeta-1,PLCzeta,SPGF17
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 89869
MIM: 608075
HGNC: 19218
Ensembl: ENSG00000139151

Variants:

dbSNP: 89869
ClinVar: 89869
TCGA: ENSG00000139151
COSMIC: PLCZ1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139151ENST00000266505Q86YW0
ENSG00000139151ENST00000266505A0A140VJR9
ENSG00000139151ENST00000318197F5H474
ENSG00000139151ENST00000534932F5H3L4
ENSG00000139151ENST00000535429F5GYE4
ENSG00000139151ENST00000536023H0YFH9
ENSG00000139151ENST00000538330Q8N7S5
ENSG00000139151ENST00000539072F5H2D7
ENSG00000139151ENST00000539207F5H474
ENSG00000139151ENST00000539875Q86YW0
ENSG00000139151ENST00000540270H0YGH7
ENSG00000139151ENST00000540421H0YH40
ENSG00000139151ENST00000541966F5GZK3
ENSG00000139151ENST00000543219H0YGY7
ENSG00000139151ENST00000543242F5H828
ENSG00000139151ENST00000648272A0A3B3ISW9

Expression (GTEx)

0
10
20
30
40
50
60
70
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

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Calcium signaling pathwayKEGGko04020
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Calcium signaling pathwayKEGGhsa04020
Phosphatidylinositol signaling systemKEGGhsa04070
Oocyte meiosisKEGGko04114
Oocyte meiosisKEGGhsa04114
Metabolic pathwaysKEGGhsa01100
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4KEGGhsa_M00130
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4KEGGM00130
Thyroid hormone signaling pathwayKEGGhsa04919
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204

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
189246102008Human sperm devoid of PLC, zeta 1 fail to induce Ca(2+) release and are unable to initiate the first step of embryo development.68
220957892012A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCζ) leads to male infertility.27
183222752008Difference in Ca2+ oscillation-inducing activity and nuclear translocation ability of PLCZ1, an egg-activating sperm factor candidate, between mouse, rat, human, and medaka fish.22
212047862011Male infertility-linked point mutation disrupts the Ca2+ oscillation-inducing and PIP(2) hydrolysis activity of sperm PLCζ.19
267219302016Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.19
239166052013Phospholipase C zeta (PLCζ): oocyte activation and clinical links to male factor infertility.16
241573622013Sperm PLCζ: from structure to Ca2+ oscillations, egg activation and therapeutic potential.16
218965502011Quantitative expression of phospholipase C zeta, as an index to assess fertilization potential of a semen sample.15
180036222008Preimplantation development of mouse oocytes activated by different levels of human phospholipase C zeta.13

Citation

Dessen P

PLCZ1 (phospholipase C zeta 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47130/plcz1