PLCZ1 (phospholipase C zeta 1)

Gene

• Entrez ID: 89869
• Gene name: Phospholipase C zeta 1
• Gene symbol: PLCZ1
• Synonyms (NCBI Gene): Czeta, NYD-SP27, PLC-zeta-1, PLCzeta, SPGF17
• Chromosome: 12
• Chromosome location: 12p12.3
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IBA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IDA	28270562
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	IEA
GO:0004435	Function	Phosphatidylinositol-4,5-bisphosphate phospholipase C activity	NAS	26116451
GO:0004629	Function	Phospholipase C activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	28270562
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18322275
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IMP	26721930, 28270562
GO:0007338	Process	Single fertilization	IEA
GO:0007343	Process	Egg activation	IEA
GO:0007343	Process	Egg activation	IMP	26721930
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	IMP	28270562
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IMP	28270562
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0045120	Component	Pronucleus	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060470	Process	Positive regulation of cytosolic calcium ion concentration involved in egg activation	IBA
GO:0060470	Process	Positive regulation of cytosolic calcium ion concentration involved in egg activation	IDA	18322275, 26116451
GO:0060470	Process	Positive regulation of cytosolic calcium ion concentration involved in egg activation	IEA
GO:0061827	Component	Sperm head	IMP	26721930

Other IDs

• MIM: 608075
• HGNC: 19218
• e!Ensembl: ENSG00000139151

Protein

• UniProt ID: Q86YW0
• Protein 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)
• Protein function: 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09279	EF-hand_like	63 → 148	Phosphoinositide-specific phospholipase C, efhand-like	Domain
  PF00388	PI-PLC-X	157 → 300	Phosphatidylinositol-specific phospholipase C, X domain	Family
  PF00387	PI-PLC-Y	349 → 463	Phosphatidylinositol-specific phospholipase C, Y domain	Family
  PF00168	C2	482 → 588	C2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed specifically in testis and sperm. Weakly expressed in pancreatic-duct cells. Up-regulated in pancreatic-duct cells from patients with cystic fibrosis. {ECO:0000269|PubMed:12416999, ECO:0000269|PubMed:14697805, ECO:0000269|Pub
• Sequence:

  MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKDNDRLKQGRITIEEF
  RAIYRIITHREEIIEIFNTYSENRKILLASNLAQFLTQEQYAAEMSKAIAFEIIQKYEPI
  EEVRKAHQMSLEGFTRYMDSRECLLFKNECRKVYQDMTHPLNDYFISSSHNTYLVSDQLL
  GPSDLWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMTS
  DYPVVLSLENHCSTAQQEVMADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKK
  IGTLKETHERKGSDKRGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEK
  FKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNP
  QEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGM
  PITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETF
  TFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCMNKGYRRIPLFSRMGESLEPASL
  FVYVWYVR

• Sequence length: 608

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Calcium signaling pathway
Phosphatidylinositol signaling system
Oocyte meiosis
Thyroid hormone signaling pathway
Shigellosis

Reactome:

Synthesis of IP3 and IP4 in the cytosol

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
PLCZ1-related disorder	Likely pathogenic	rs757326350	RCV003391022
Spermatogenic failure 17	Likely pathogenic; Pathogenic	rs745955620, rs757326350, rs1181990929, rs1310560334, rs1401353772, rs749562548, rs535719220, rs1955655663, rs1956460756	RCV001782651 RCV000258930 RCV003325427 RCV003325428 RCV003325429 RCV003325430 RCV001256026 RCV001256027 RCV001256028

Associations from Text Mining
Disease Name	Relationship Type	References
Cancer Familial with In Vitro Radioresistance	Associate	36529831
Cryptorchidism	Associate	38027210
Immunologic Deficiency Syndromes	Associate	36742411
Infertility	Associate	22633260, 32146562, 37376733
Infertility Male	Associate	22633260, 32146562, 36529831, 38048167
Obesity	Associate	34638758
Polycystic Ovary Syndrome	Associate	26308735
Renal Insufficiency	Associate	26174123, 32146562, 32840018, 33073652, 34126833, 36529831, 38048167
Varicocele	Inhibit	27612872
ZAP70 deficiency	Inhibit	20133201