PLCZ1 (phospholipase C zeta 1)

2007-04-01  

Identity

HGNC
LOCATION
12p12.3
LOCUSID
ALIAS
NYD-SP27,PLC-zeta-1,PLCzeta,SPGF17
FUSION GENES

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

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
382793442024Phospholipase C Zeta in Human Spermatozoa: A Systematic Review on Current Development and Clinical Application.0
384459552024Novel PLCZ1 mutation caused polyspermy during in vitro fertilization.0
382793442024Phospholipase C Zeta in Human Spermatozoa: A Systematic Review on Current Development and Clinical Application.0
384459552024Novel PLCZ1 mutation caused polyspermy during in vitro fertilization.0
365935932023Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.4
365935932023Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.4
348935742022Antigen unmasking does not improve the visualization of phospholipase C zeta in human spermatozoa.4
348935742022Antigen unmasking does not improve the visualization of phospholipase C zeta in human spermatozoa.4
336263382021Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.20
336263382021Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.20
314639472020Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization patterns of PLCζ in sperm.24
317361652020The alteration of PLCζ protein expression in unexplained infertile and asthenoteratozoospermic patients: A potential effect on sperm fertilization ability.10
319535392020The identification of novel mutations in PLCZ1 responsible for human fertilization failure and a therapeutic intervention by artificial oocyte activation.16
320487142020Novel mutations in PLCZ1 cause male infertility due to fertilization failure or poor fertilization.19
321421202020A novel homozygous mutation of phospholipase C zeta leading to defective human oocyte activation and fertilization failure.16

Citation

Dessen P

PLCZ1 (phospholipase C zeta 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47130/plcz1-(phospholipase-c-zeta-1)