• Gene id: 5334

Gene Summary

• Gene Symbol: PLCL1   Gene   UCSC   Ensembl
• Aliases: PLCE, PLCL, PLDL1, PPP1R127, PRIP
• Gene name: phospholipase C like 1 (inactive)
• Alternate names: inactive phospholipase C-like protein 1, PLC-L1, phospholipase C, epsilon, phospholipase C-deleted in lung carcinoma, phospholipase C-like 1, phospholipase C-related but catalytically inactive protein, protein phosphatase 1, regulatory subunit 127,
• Gene location: 2q33.1 (139028744: 139043301)     Exons: 4     NC_000006.12
• OMIM: 600597

SNPs

rs3741843

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

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

Protein Summary

• Protein general information: Q15111  
  • Name: Inactive phospholipase C like protein 1 (PLC L1) (Phospholipase C deleted in lung carcinoma) (Phospholipase C related but catalytically inactive protein) (PRIP)
  • Length: 1095  
  • Mass: 122728
  • Tissue specificity: Expressed in a variety of fetal and adult organs including brain, lung and kidney. Its expression was greatly reduced in small and non-small cell lung carcinoma. Isoform 1 is predominantly expressed in brain. {ECO
• Sequence:

  MAEGAAGREDPAPPDAAGGEDDPRVGPDAAGDCVTAASGGRMRDRRSGVALPGAAGTPADSEAGLLEAARATPRR
  SSIIKDPSNQKCGGRKKTVSFSSMPSEKKISSANDCISFMQAGCELKKVRPNSRIYNRFFTLDTDLQALRWEPSK
  KDLEKAKLDISAIKEIRLGKNTETFRNNGLADQICEDCAFSILHGENYESLDLVANSADVANIWVSGLRYLVSRS
  KQPLDFMEGNQNTPRFMWLKTVFEAADVDGNGIMLEDTSVELIKQLNPTLKEAKIRLKFKEIQKSKEKLTTRVTE
  EEFCEAFCELCTRPEVYFLLVQISKNKEYLDANDLMLFLEAEQGVTHITEDICLDIIRRYELSEEGRQKGFLAID
  GFTQYLLSSECDIFDPEQKKVAQDMTQPLSHYYINASHNTYLIEDQFRGPADINGYIRALKMGCRSVELDVSDGS
  DNEPILCNRNNMTTHVSFRSVIEVINKFAFVASEYPLILCLGNHCSLPQQKVMAQQMKKVFGNKLYTEAPLPSES
  YLPSPEKLKRMIIVKGKKLPSDPDVLEGEVTDEDEEAEMSRRMSVDYNGEQKQIRLCRELSDLVSICKSVQYRDF
  ELSMKSQNYWEMCSFSETEASRIANEYPEDFVNYNKKFLSRIYPSAMRIDSSNLNPQDFWNCGCQIVAMNFQTPG
  PMMDLHTGWFLQNGGCGYVLRPSIMRDEVSYFSANTKGILPGVSPLALHIKIISGQNFPKPKGACAKGDVIDPYV
  CIEIHGIPADCSEQRTKTVQQNSDNPIFDETFEFQVNLPELAMIRFVVLDDDYIGDEFIGQYTIPFECLQPGYRH
  VPLRSFVGDIMEHVTLFVHIAITNRSGGGKAQKRSLSVRMGKKVREYTMLRNIGLKTIDDIFKIAVHPLREAIDM
  RENMQNAIVSIKELCGLPPIASLKQCLLTLSSRLITSDNTPSVSLVMKDSFPYLEPLGAIPDVQKKMLTAYDLMI
  QESRFLIEMADTVQEKIVQCQKAGMEFHEELHNLGAKEGLKGRKLNKATESFAWNITVLKGQGDLLKNAKNEAIE
  NMKQIQLACLSCGLSKAPSSSAEAKSKRSLEAIEEKESSEENGKL

• Structural information:
  • Protein Domains: (113..22-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (398..54-)
    (/note="PI-PLC-X-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00270-)
    (585..70-)
    (/note="PI-PLC-Y-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR011993  IPR001849   IPR001192  IPR017946  IPR015359  IPR042124  IPR000909  IPR001711  
  • Prosite: PS50004 PS50003 PS50007 PS50008
  • STRING: ENSP00000402861
• Other Databases: GeneCards:  PLCL1  Malacards:  PLCL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032959	inositol trisphosphate biosynthetic process	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0032228	regulation of synaptic transmission, GABAergic	IEA	biological process
GO:0050811	GABA receptor binding	IEA	molecular function
GO:0070679	inositol 1,4,5 trisphosphate binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004629	phospholipase C activity	TAS	molecular function
GO:0035556	intracellular signal transduction	TAS	biological process
GO:1900122	positive regulation of receptor binding	IEA	biological process
GO:0033135	regulation of peptidyl-serine phosphorylation	IEA	biological process
GO:0032228	regulation of synaptic transmission, GABAergic	IEA	biological process
GO:0120163	negative regulation of cold-induced thermogenesis	IEA	biological process
GO:0007214	gamma-aminobutyric acid signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04727	GABAergic synapse

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)