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PLCL1 phospholipase C like 1 (inactive) [ Homo sapiens (human) ]

Gene ID: 5334, updated on 27-Nov-2024

Summary

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Official Symbol
PLCL1provided by HGNC
Official Full Name
phospholipase C like 1 (inactive)provided by HGNC
Primary source
HGNC:HGNC:9063
See related
Ensembl:ENSG00000115896 MIM:600597; AllianceGenome:HGNC:9063
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PLCE; PLCL; PRIP; PLDL1; PPP1R127
Summary
Predicted to enable GABA receptor binding activity and phosphatidylinositol phospholipase C activity. Predicted to be involved in gamma-aminobutyric acid signaling pathway; negative regulation of cold-induced thermogenesis; and regulation of GABAergic synaptic transmission. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in kidney (RPKM 12.7), heart (RPKM 9.4) and 16 other tissues See more
Orthologs
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Genomic context

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See PLCL1 in Genome Data Viewer
Location:
2q33.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197804593..198149863)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (198288252..198633649)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198669317..199014587)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:198593971-198594541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16944 Neighboring gene uncharacterized LOC105373828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12217 Neighboring gene boule homolog, RNA binding protein Neighboring gene PLCL1 intron CAGE-defined T cell enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:198737772-198738272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16948 Neighboring gene Sharpr-MPRA regulatory region 13904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16947 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198773623-198774822 Neighboring gene Sharpr-MPRA regulatory region 14302 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:198803213-198803426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12218 Neighboring gene Sharpr-MPRA regulatory region 7560 Neighboring gene long intergenic non-protein coding RNA 1923 Neighboring gene uncharacterized LOC105373831 Neighboring gene uncharacterized LOC105373830

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study. Liu YZ, et al. PLoS One, 2008 Sep 8. PMID 18776929, Free PMC Article
  2. PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women. Cauchi S, et al. BMC Med Genet, 2009 Dec 23. PMID 20030815, Free PMC Article
  3. Phospholipase C-related but catalytically inactive protein, PRIP as a scaffolding protein for phospho-regulation. Sugiyama G, et al. Adv Biol Regul, 2013 Sep. PMID 23911386
  4. Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders. Miller FW, et al. Arthritis Rheum, 2013 Dec. PMID 23983088, Free PMC Article
  5. Dysfunction of extrasynaptic GABAergic transmission in phospholipase C-related, but catalytically inactive protein 1 knockout mice is associated with an epilepsy phenotype. Zhu G, et al. J Pharmacol Exp Ther, 2012 Mar. PMID 22128345

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DOT1L protects against podocyte injury in diabetic kidney disease through phospholipase C-like 1.
    Title: DOT1L protects against podocyte injury in diabetic kidney disease through phospholipase C-like 1.
  2. PLCL1 suppresses tumour progression by regulating AMPK/mTOR-mediated autophagy in renal cell carcinoma.
    Title: PLCL1 suppresses tumour progression by regulating AMPK/mTOR-mediated autophagy in renal cell carcinoma.
  3. PLCL1 regulates fibroblast-like synoviocytes inflammation via NLRP3 inflammasomes in rheumatoid arthritis.
    Title: PLCL1 regulates fibroblast-like synoviocytes inflammation via NLRP3 inflammasomes in rheumatoid arthritis.
  4. Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method.
    Title: Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method.
  5. susceptibility gene for dermatomyositis in Chinese patients with idiopathic inflammatory myopathies
    Title: Positive association of genetic variations in the phospholipase C-like 1 gene with dermatomyositis in Chinese Han.
  6. PRIP interacts with the catalytic subunits of PP1 and PP2A and the interactions are regulated by phosphorylation. [review]
    Title: Phospholipase C-related but catalytically inactive protein, PRIP as a scaffolding protein for phospho-regulation.
  7. effect of DZP on PRIP-1 knockout mice was reduced
    Title: Dysfunction of extrasynaptic GABAergic transmission in phospholipase C-related, but catalytically inactive protein 1 knockout mice is associated with an epilepsy phenotype.
  8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  9. In postmenopausal women, our results suggest that the PLCL1 rs7595412 polymorphism has no obvious effect on hip bone size and bone mineral density but may be associated with increased proportion of vertebral fracture and increased levels of osteocalcin
    Title: PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
EBI GWAS Catalog
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
EBI GWAS Catalog
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
EBI GWAS Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
EBI GWAS Catalog
Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders.
EBI GWAS Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study.
EBI GWAS Catalog
Integrative genome-wide association analysis of cytoarchitectural abnormalities in the prefrontal cortex of psychiatric disorders.
EBI GWAS Catalog
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126580, MGC138190

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylinositol phospholipase C activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phospholipase C activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in phosphatidylinositol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylinositol-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
inactive phospholipase C-like protein 1
Names
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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006226.4 → NP_006217.3  inactive phospholipase C-like protein 1

    See identical proteins and their annotated locations for NP_006217.3

    Status: VALIDATED

    Source sequence(s)
    AC011997, AC020719, BC111985, BP340710, DA193701, DA414853, T87219
    Consensus CDS
    CCDS2326.2
    UniProtKB/Swiss-Prot
    Q15111, Q3MJ90, Q53SD3, Q7Z3S3
    UniProtKB/TrEMBL
    H3BUD4
    Related
    ENSP00000402861.1, ENST00000428675.6
    Conserved Domains (4) summary
    cd00275
    Location:720 → 848
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:398 → 688
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    cd13364
    Location:115 → 223
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    cd16222
    Location:243 → 385
    EFh_PRIP1; EF-hand motif found in phospholipase C-related but catalytically inactive protein 1 (PRIP-1)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    197804593..198149863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246643.5 → XP_005246700.1  inactive phospholipase C-like protein 1 isoform X1

    UniProtKB/TrEMBL
    H3BUD4
    Related
    ENSP00000457588.1, ENST00000487695.6
    Conserved Domains (6) summary
    cd00275
    Location:646 → 774
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:324 → 614
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    PLN02228
    Location:256 → 776
    PLN02228; Phosphoinositide phospholipase C
    cd13364
    Location:41 → 149
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam00169
    Location:44 → 149
    PH; PH domain
    pfam09279
    Location:241 → 322
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like

  2. XM_017004339.3 → XP_016859828.1  inactive phospholipase C-like protein 1 isoform X2

    UniProtKB/TrEMBL
    H3BUD4
    Conserved Domains (6) summary
    cd00275
    Location:641 → 769
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:319 → 609
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    PLN02228
    Location:251 → 771
    PLN02228; Phosphoinositide phospholipase C
    cd13364
    Location:36 → 144
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam00169
    Location:39 → 144
    PH; PH domain
    pfam09279
    Location:236 → 317
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like

  3. XM_005246644.5 → XP_005246701.1  inactive phospholipase C-like protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005246701.1

    UniProtKB/TrEMBL
    H3BUD4
    Conserved Domains (6) summary
    cd00275
    Location:641 → 769
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:319 → 609
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    PLN02228
    Location:251 → 771
    PLN02228; Phosphoinositide phospholipase C
    cd13364
    Location:36 → 144
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam00169
    Location:39 → 144
    PH; PH domain
    pfam09279
    Location:236 → 317
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    198288252..198633649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342569.1 → XP_054198544.1  inactive phospholipase C-like protein 1 isoform X1

  2. XM_054342570.1 → XP_054198545.1  inactive phospholipase C-like protein 1 isoform X2

  3. XM_054342571.1 → XP_054198546.1  inactive phospholipase C-like protein 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15111.3 GenPept UniProtKB/Swiss-Prot:Q15111

Gene LinkOut

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