ENSG00000139151


Homo sapiens

Features
Gene ID: ENSG00000139151
  
Biological name :PLCZ1
  
Synonyms : phospholipase C zeta 1 / PLCZ1 / Q86YW0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p12.3
Gene start: 18683169
Gene end: 18738057
  
Corresponding Affymetrix probe sets: 231425_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000445880
Ensembl peptide - ENSP00000445287
Ensembl peptide - ENSP00000445889
Ensembl peptide - ENSP00000266505
Ensembl peptide - ENSP00000326397
Ensembl peptide - ENSP00000438629
Ensembl peptide - ENSP00000438679
Ensembl peptide - ENSP00000438826
Ensembl peptide - ENSP00000440781
Ensembl peptide - ENSP00000443320
Ensembl peptide - ENSP00000443762
Ensembl peptide - ENSP00000444383
Ensembl peptide - ENSP00000444611
Ensembl peptide - ENSP00000445026
NCBI entrez gene - 89869     See in Manteia.
OMIM - 608075
RefSeq - XM_017020186
RefSeq - NM_001330769
RefSeq - NM_001330774
RefSeq - NM_033123
RefSeq - XM_005253519
RefSeq - XM_011520883
RefSeq - XM_017020176
RefSeq - XM_017020177
RefSeq - XM_017020178
RefSeq - XM_017020179
RefSeq - XM_017020180
RefSeq - XM_017020181
RefSeq - XM_017020182
RefSeq - XM_017020183
RefSeq - XM_017020184
RefSeq - XM_017020185
RefSeq Peptide - NP_149114
RefSeq Peptide - NP_001317698
RefSeq Peptide - NP_001317703
swissprot - F5H2D7
swissprot - F5H3L4
swissprot - F5H474
swissprot - F5H828
swissprot - H0YFH9
swissprot - H0YGH7
swissprot - H0YGY7
swissprot - H0YH40
swissprot - Q86YW0
swissprot - Q8N7S5
swissprot - A0A140VJR9
swissprot - F5GYE4
swissprot - F5GZK3
Ensembl - ENSG00000139151
  
Related genetic diseases (OMIM): 617214 - ?Spermatogenic failure 17, 617214
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 PLCZ1ENSGALG00000013123Gallus gallus
 Plcz1ENSMUSG00000030230Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PLCD4 / Q9BRC7 / phospholipase C delta 4ENSG0000011555645
PLCD1 / P51178 / phospholipase C delta 1ENSG0000018709142
PLCH2 / O75038 / phospholipase C eta 2ENSG0000014952739
PLCD3 / Q8N3E9 / phospholipase C delta 3ENSG0000016171439
PLCL2 / Q9UPR0 / phospholipase C like 2ENSG0000015482239
PLCH1 / Q4KWH8 / phospholipase C eta 1ENSG0000011480538
PLCL1 / Q15111 / phospholipase C like 1 (inactive)ENSG0000011589638
PLCB1 / Q9NQ66 / phospholipase C beta 1ENSG0000018262135
PLCB4 / Q15147 / phospholipase C beta 4ENSG0000010133334
PLCB2 / Q00722 / phospholipase C beta 2ENSG0000013784134
PLCB3 / Q01970 / phospholipase C beta 3ENSG0000014978233


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR000909  Phosphatidylinositol-specific phospholipase C, X domain
 IPR001192  Phosphoinositide phospholipase C family
 IPR001711  Phospholipase C, phosphatidylinositol-specific, Y domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR015359  Phosphoinositide-specific phospholipase C, EF-hand-like domain
 IPR017946  PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
 IPR028395  1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007338 single fertilization IEA
 biological_processGO:0007343 egg activation IEA
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0043647 inositol phosphate metabolic process TAS
 biological_processGO:0060470 positive regulation of cytosolic calcium ion concentration involved in egg activation IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0045120 pronucleus IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0061827 sperm head IMP
 molecular_functionGO:0004435 phosphatidylinositol phospholipase C activity IEA
 molecular_functionGO:0004629 phospholipase C activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA
 molecular_functionGO:0008081 phosphoric diester hydrolase activity IEA
 molecular_functionGO:0010314 phosphatidylinositol-5-phosphate binding IMP
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0032266 phosphatidylinositol-3-phosphate binding IMP


Pathways (from Reactome)
Pathway description
Synthesis of IP3 and IP4 in the cytosol


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000789 Infertility 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr