PLCL1 (phospholipase C like 1 (inactive))

2007-04-01  

Identity

HGNC
LOCATION
2q33.1
LOCUSID
ALIAS
PLCE,PLCL,PLDL1,PPP1R127,PRIP
FUSION GENES

Other Information

Locus ID:

NCBI: 5334
MIM: 600597
HGNC: 9063
Ensembl: ENSG00000115896

Variants:

dbSNP: 5334
ClinVar: 5334
TCGA: ENSG00000115896
COSMIC: PLCL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115896ENST00000428675Q15111
ENSG00000115896ENST00000435320F8WAR2
ENSG00000115896ENST00000437704A0A0A0MT40
ENSG00000115896ENST00000487695H3BUD4

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA26097CASRGenePathwayassociated
PA33759PRKCAGenePathwayassociated
PA33761PRKCBGenePathwayassociated
PA33766PRKCGGenePathwayassociated
PA33767PRKCHGenePathwayassociated
PA33768PRKCIGenePathwayassociated
PA33771PRKD1GenePathwayassociated
PA33775PRKCZGenePathwayassociated

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
187769292008Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study.27
187769292008Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study.27
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
239113862013Phospholipase C-related but catalytically inactive protein, PRIP as a scaffolding protein for phospho-regulation.7
221283452012Dysfunction of extrasynaptic GABAergic transmission in phospholipase C-related, but catalytically inactive protein 1 knockout mice is associated with an epilepsy phenotype.5
266031672016Positive association of genetic variations in the phospholipase C-like 1 gene with dermatomyositis in Chinese Han.4
169524282006Characterization of the human PRIP-1 gene structure and transcriptional regulation.1
200308152009PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women.0
200308152009PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women.0

Citation

Dessen P

PLCL1 (phospholipase C like 1 (inactive))

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46709/plcl1