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

    Gene ID: 5334, updated on 2-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
    mouse all
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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 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. 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
    2. Identification of a novel phospholipase C family gene at chromosome 2q33 that is homozygously deleted in human small cell lung carcinoma. Kohno T, et al. Hum Mol Genet, 1995 Apr. PMID 7633416
    3. Deletion mapping of chromosome 2 in human lung carcinoma. Otsuka T, et al. Genes Chromosomes Cancer, 1996 Jun. PMID 8818658
    4. Characterization of the human PRIP-1 gene structure and transcriptional regulation. Murakami A, et al. Gene, 2006 Nov 1. PMID 16952428
    5. 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

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women.
    10. PLCL1 is a novel gene associated with variation in hip bone size, which has a role in the pathogenesis of hip fractures
      Title: Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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)

    Genotypes

    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 regulation of synaptic transmission, GABAergic 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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