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Protein

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1

Gene

PLCZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 Ca2+-dependent manner. Triggers intracellular Ca2+ 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.By similarityCurated4 Publications

Catalytic activityi

1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H2O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.By similarity

Cofactori

Ca2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei170PROSITE-ProRule annotationBy similarity1
Active sitei215PROSITE-ProRule annotationBy similarity1

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • phosphatidylinositol-3-phosphate binding Source: UniProtKB
  • phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
  • phosphatidylinositol-5-phosphate binding Source: UniProtKB
  • phosphatidylinositol phospholipase C activity Source: UniProtKB
  • signal transducer activity Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Hydrolase, Transducer
Biological processFertilization, Lipid degradation, Lipid metabolism
LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-1855204 Synthesis of IP3 and IP4 in the cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 (EC:3.1.4.11)
Alternative name(s):
Phosphoinositide phospholipase C-zeta-1
Phospholipase C-zeta-11 Publication
Short name:
PLC-zeta-11 Publication
Testis-development protein NYD-SP27
Gene namesi
Name:PLCZ1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139151.14
HGNCiHGNC:19218 PLCZ1
MIMi608075 gene
neXtProtiNX_Q86YW0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure 17 (SPGF17)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder due to failure of oocyte activation and fertilization by sperm that otherwise exhibits normal morphology.
See also OMIM:617214
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077876489I → F in SPGF17; loss of function in egg activation. 1 PublicationCorresponds to variant dbSNP:rs757326350EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi89869
MalaCardsiPLCZ1
MIMi617214 phenotype
OpenTargetsiENSG00000139151
PharmGKBiPA134875646

Polymorphism and mutation databases

DMDMi74714209

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003472441 – 6081-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1Add BLAST608

Proteomic databases

PaxDbiQ86YW0
PeptideAtlasiQ86YW0
PRIDEiQ86YW0

PTM databases

iPTMnetiQ86YW0
PhosphoSitePlusiQ86YW0

Expressioni

Tissue specificityi

Expressed specifically in testis and sperm. Weakly expressed in pancreatic-duct cells. Up-regulated in pancreatic-duct cells from patients with cystic fibrosis.3 Publications

Gene expression databases

BgeeiENSG00000139151
CleanExiHS_PLCZ1
ExpressionAtlasiQ86YW0 baseline and differential
GenevisibleiQ86YW0 HS

Interactioni

Subunit structurei

Interacts via its C2 domain with PtdIns3P and, to a lesser extent, PtdIns5P in vitro.By similarity

Protein-protein interaction databases

BioGridi124625, 10 interactors
STRINGi9606.ENSP00000266505

Structurei

3D structure databases

ProteinModelPortaliQ86YW0
SMRiQ86YW0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 70EF-handPROSITE-ProRule annotationAdd BLAST36
Domaini155 – 299PI-PLC X-boxPROSITE-ProRule annotationAdd BLAST145
Domaini349 – 465PI-PLC Y-boxPROSITE-ProRule annotationAdd BLAST117
Domaini469 – 572C2PROSITE-ProRule annotationAdd BLAST104

Domaini

The EF-hand and C2 domains are essential for triggering Ca2+ oscillating activity and the regulation of PLCZ1 enzyme activity.By similarity
The X-Y linker region between PI-PLC X-box and Y-box domains may be a target for proteolysis and may play an important regulatory role during fertilization.By similarity

Phylogenomic databases

eggNOGiKOG0169 Eukaryota
ENOG410XPSW LUCA
GeneTreeiENSGT00760000118936
HOGENOMiHOG000006871
HOVERGENiHBG053610
InParanoidiQ86YW0
KOiK05861
OMAiMTHPLND
OrthoDBiEOG091G02KH
PhylomeDBiQ86YW0
TreeFamiTF313216

Family and domain databases

Gene3Di2.60.40.150, 1 hit
3.20.20.190, 2 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR011992 EF-hand-dom_pair
IPR002048 EF_hand_dom
IPR001192 PI-PLC_fam
IPR017946 PLC-like_Pdiesterase_TIM-brl
IPR028395 PLC-zeta1
IPR015359 PLC_EF-hand-like
IPR000909 PLipase_C_PInositol-sp_X_dom
IPR001711 PLipase_C_Pinositol-sp_Y
PANTHERiPTHR10336 PTHR10336, 2 hits
PTHR10336:SF29 PTHR10336:SF29, 2 hits
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF09279 EF-hand_like, 1 hit
PF00388 PI-PLC-X, 1 hit
PF00387 PI-PLC-Y, 1 hit
PRINTSiPR00390 PHPHLIPASEC
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00148 PLCXc, 1 hit
SM00149 PLCYc, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
SSF51695 SSF51695, 1 hit
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit
PS50222 EF_HAND_2, 1 hit
PS50007 PIPLC_X_DOMAIN, 1 hit
PS50008 PIPLC_Y_DOMAIN, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 13 Publications (identifier: Q86YW0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEMRWFLSKI QDDFRGGKIN LEKTQRLLEK LDIRCSYIHV KQIFKDNDRL
60 70 80 90 100
KQGRITIEEF RAIYRIITHR EEIIEIFNTY SENRKILLAS NLAQFLTQEQ
110 120 130 140 150
YAAEMSKAIA FEIIQKYEPI EEVRKAHQMS LEGFTRYMDS RECLLFKNEC
160 170 180 190 200
RKVYQDMTHP LNDYFISSSH NTYLVSDQLL GPSDLWGYVS ALVKGCRCLE
210 220 230 240 250
IDCWDGAQNE PVVYHGYTLT SKLLFKTVIQ AIHKYAFMTS DYPVVLSLEN
260 270 280 290 300
HCSTAQQEVM ADNLQATFGE SLLSDMLDDF PDTLPSPEAL KFKILVKNKK
310 320 330 340 350
IGTLKETHER KGSDKRGDNQ DKETGVKKLP GVMLFKKKKT RKLKIALALS
360 370 380 390 400
DLVIYTKAEK FKSFQHSRLY QQFNENNSIG ETQARKLSKL RVHEFIFHTR
410 420 430 440 450
KFITRIYPKA TRADSSNFNP QEFWNIGCQM VALNFQTPGL PMDLQNGKFL
460 470 480 490 500
DNGGSGYILK PHFLRESKSY FNPSNIKEGM PITLTIRLIS GIQLPLTHSS
510 520 530 540 550
SNKGDSLVII EVFGVPNDQM KQQTRVIKKN AFSPRWNETF TFIIHVPELA
560 570 580 590 600
LIRFVVEGQG LIAGNEFLGQ YTLPLLCMNK GYRRIPLFSR MGESLEPASL

FVYVWYVR
Length:608
Mass (Da):70,411
Last modified:June 1, 2003 - v1
Checksum:i540A81A2DDB9537B
GO
Isoform 21 Publication (identifier: Q86YW0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     46-238: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:415
Mass (Da):47,758
Checksum:i68B6337B885663DE
GO
Isoform 3 (identifier: Q86YW0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-104: Missing.

Show »
Length:504
Mass (Da):57,804
Checksum:i671C2692852FED44
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti294I → V in AAK61372 (PubMed:14697805).Curated1
Sequence conflicti489I → T in AAK61372 (PubMed:14697805).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077876489I → F in SPGF17; loss of function in egg activation. 1 PublicationCorresponds to variant dbSNP:rs757326350EnsemblClinVar.1
Natural variantiVAR_050542500S → L. Corresponds to variant dbSNP:rs10505830Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0350761 – 104Missing in isoform 3. 1 PublicationAdd BLAST104
Alternative sequenceiVSP_05286246 – 238Missing in isoform 2. 1 PublicationAdd BLAST193

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF532185 mRNA Translation: AAN71895.1
AY035866 mRNA Translation: AAK61372.1
AK292279 mRNA Translation: BAF84968.1
BC125067 mRNA Translation: AAI25068.1
CCDSiCCDS81671.1 [Q86YW0-2]
CCDS8680.1 [Q86YW0-1]
RefSeqiNP_001317698.1, NM_001330769.1 [Q86YW0-2]
NP_001317703.1, NM_001330774.1 [Q86YW0-3]
NP_149114.2, NM_033123.3 [Q86YW0-1]
UniGeneiHs.743832
Hs.97542

Genome annotation databases

EnsembliENST00000266505; ENSP00000266505; ENSG00000139151 [Q86YW0-1]
ENST00000539875; ENSP00000445026; ENSG00000139151 [Q86YW0-2]
GeneIDi89869
KEGGihsa:89869
UCSCiuc058lrt.1 human [Q86YW0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPLCZ1_HUMAN
AccessioniPrimary (citable) accession number: Q86YW0
Secondary accession number(s): Q08AQ7, Q96J70
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: June 1, 2003
Last modified: April 25, 2018
This is version 129 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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