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Gene Symbol |
PLCZ1 |
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Aliases |
NYD-SP27, PLC-zeta-1, PLCzeta, SPGF17 |
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Entrez Gene ID |
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Gene Name |
Phospholipase C zeta 1 |
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Chromosomal Location |
12p12.3 |
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HGNC ID |
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Summary |
The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
| Gene |
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| Transcript |
ENST00000536023, ENST00000648272, ENST00000318197, ENST00000534932, ENST00000543219, ENST00000538330, ENST00000540270, ENST00000266505, ENST00000539875, ENST00000540421, ENST00000543242, ENST00000539072, ENST00000539207, ENST00000535429, ENST00000541966 |
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| Protein |
ENSP00000438679, ENSP00000497636, ENSP00000326397, ENSP00000438826, ENSP00000445287, ENSP00000445880, ENSP00000443320, ENSP00000266505, ENSP00000445026, ENSP00000445889, ENSP00000443762, ENSP00000438629, ENSP00000444611, ENSP00000440781, ENSP00000444383
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| Protein Information |
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Protein Name |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1, PI-phospholipase C zeta 1, phosphoinositide phospholipase C-zeta-1, testicular tissue protein Li 145, testis-development related NYD-SP27 |
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Function |
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The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function. |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000384917 |
Q4LDE5 |
Q4LDE5 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Reproductive disorders |
| Spermatogenic Failure |
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References |
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| Shim Unjin, Kim Han-Na, Lee Hyejin, Oh Jee-Young, Sung Yeon-Ah, Kim Hyung-Lae |
| Department of Internal Medicine, Seoul Seonam Hospital, Ewha Womans University Medical Center, Seoul, Korea.| Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.| Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, Korea. |
| PLoS One. 2015 Aug 26;10(8):e0136609. doi: 10.1371/journal.pone.0136609. |
Abstract
BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is affected by both environmental and genetic factors. Although the genetic component of PCOS is evident, studies aiming to identify susceptibility genes have shown controversial results. This study conducted a pathway-based analysis using a dataset obtained through a genome-wide association study (GWAS) to elucidate the biological pathways that contribute to PCOS susceptibility and the associated genes. METHODS: We used GWAS data on 636,797 autosomal single nucleotide polymorphisms (SNPs) from 1,221 individuals (432 PCOS patients and 789 controls) for analysis. A pathway analysis was conducted using meta-analysis gene-set enrichment of variant associations (MAGENTA). Top-ranking pathways or gene sets associated with PCOS were identified, and significant genes within the pathways were analyzed. RESULTS: The pathway analysis of the GWAS dataset identified significant pathways related to oocyte meiosis and the regulation of insulin secretion by acetylcholine and free fatty acids (all nominal gene-set enrichment analysis (GSEA) P-values < 0.05). In addition, INS, GNAQ, STXBP1, PLCB3, PLCB2, SMC3 and PLCZ1 were significant genes observed within the biological pathways (all gene P-values < 0.05). CONCLUSIONS: By applying MAGENTA pathway analysis to PCOS GWAS data, we identified significant pathways and candidate genes involved in PCOS. Our findings may provide new leads for understanding the mechanisms underlying the development of PCOS. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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