• Gene id: 89869

Gene Summary

• Gene Symbol: PLCZ1   Gene   UCSC   Ensembl
• Aliases: NYD-SP27, PLC-zeta-1, PLCzeta, SPGF17
• Gene name: phospholipase C zeta 1
• Alternate names: 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,
• Gene location: 12p12.3 (18738058: 18645528)     Exons: 19     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 608075

SNPs

rs757326350

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.18688215T>A
NC_000012.12   g.18688215T>C
NC_000012.11   g.18841149T>A
NC_000012.11   g.18841149T>C
NG_050635.1   g.450251T>A
NG_050635.1   g.450251T>C
NG_052826.1   g.54845A>T
NG_052826.1   g.54845A>G
NM_033123.4   c.1465A>T
NM_033123.4   c.1465A>G
NM_0  

Protein Summary

• Protein general information: Q86YW0  
  • Name: 1 phosphatidylinositol 4,5 bisphosphate phosphodiesterase zeta 1 (EC 3.1.4.11) (Phosphoinositide phospholipase C zeta 1) (Phospholipase C zeta 1) (PLC zeta 1) (Testis development protein NYD SP27)
  • Length: 608  
  • Mass: 70,411
• Sequence:

  MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKDNDRLKQGRITIEEFRAIYRIITHREEIIE
  IFNTYSENRKILLASNLAQFLTQEQYAAEMSKAIAFEIIQKYEPIEEVRKAHQMSLEGFTRYMDSRECLLFKNEC
  RKVYQDMTHPLNDYFISSSHNTYLVSDQLLGPSDLWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLF
  KTVIQAIHKYAFMTSDYPVVLSLENHCSTAQQEVMADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKK
  IGTLKETHERKGSDKRGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNE
  NNSIGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFL
  DNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTR
  VIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCMNKGYRRIPLFSRMGESLEPASL
  FVYVWYVR

• Structural information:
  • Protein Domains: EF-hand. (35-70)
    PI-PLC (155-299)
    PI-PLC (349-465)
    C2. (469-572)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR002048  IPR001192   IPR017946  IPR028395  IPR015359  IPR000909  IPR001711  
  • Prosite: PS50004 PS50222 PS50007 PS50008
  • STRING: ENSP00000266505
• Other Databases: GeneCards:  PLCZ1  Malacards:  PLCZ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007343	egg activation	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0004629	phospholipase C activity	IEA	molecular function
GO:0004629	phospholipase C activity	IEA	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007343	egg activation	IEA	biological process
GO:0007343	egg activation	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04020	Calcium signaling pathway
hsa04070	Phosphatidylinositol signaling system
hsa04114	Oocyte meiosis
hsa04919	Thyroid hormone signaling pathway

Diseases

Associated diseases	References
Oocyte activation deficient [OAD]	INFBASE: 23040527
Male factor infertility	MIK: 19584136
Globozoospermia	MIK: 21896550
Globozoospermia	MIK: 21896550
Male infertility	MIK: 22940771
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Varicocele, Male subfertility	MIK: 27612872

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22095789	Male infertility	H398P, H233L		108 (male and female controls, 8 8 infertile males with characterized oocyte activation deficiency)	Male infertility
19584136	Male infertility				Male infertility	PLCzeta
21896550	Globozoospermia			68 (8 globozoospermic men, 36 individuals with previously low or failed fertilization, 24 fertile men)	Male infertility	PLC?
28270562	Male infertility	I489F			Male infertility
27612872	Varicocele, Male subfertility			55 (35 individuals with male factor infertility presenting primary infertility with grade II and III unilateral varicocele, 20 fertile men without varicocele)	Male infertility
22940771	Globozoospermia, Male infertility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
32048714	Male infertility				Male infertility