Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	89869
Gene name Gene Name - the full gene name approved by the HGNC.	Phospholipase C zeta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PLCZ1
Synonyms (NCBI Gene) Gene synonyms aliases	Czeta, NYD-SP27, PLC-zeta-1, PLCzeta, SPGF17
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p12.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(33)

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

MIM	HGNC	e!Ensembl
608075	19218	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

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Calcium signaling pathway Phosphatidylinositol signaling system Oocyte meiosis Thyroid hormone signaling pathway Shigellosis		Synthesis of IP3 and IP4 in the cytosol

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Spermatogenic Failure	spermatogenic failure 17	rs757326350	N/A

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

PLCZ1 (phospholipase C zeta 1)