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

Gene ID: 5334, updated on 13-Aug-2022

Summary

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 phospholipase C activity. Predicted to be involved in negative regulation of cold-induced thermogenesis and phosphatidylinositol-mediated signaling. Predicted to act upstream of or within several processes, including gamma-aminobutyric acid signaling pathway; regulation of GABAergic synaptic transmission; and regulation of peptidyl-serine phosphorylation. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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

See PLCL1 in Genome Data Viewer
Location:
2q33.1
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197804593..198149863)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (198288252..198633649)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198669317..199014587)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373828 Neighboring gene boule homolog, RNA binding protein Neighboring gene PLCL1 intron CAGE-defined T cell enhancer Neighboring gene Sharpr-MPRA regulatory region 13904 Neighboring gene Sharpr-MPRA regulatory region 14302 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126580, MGC138190

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GABA receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables inositol 1,4,5 trisphosphate binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol phospholipase C activity IEA
Inferred from Electronic Annotation
more info
 
enables phospholipase C activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular signal transduction TAS
Traceable Author Statement
more info
PubMed 
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-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of receptor binding IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic transmission, GABAergic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_006226.4NP_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, Q7Z3S3
    Related
    ENSP00000402861.1, ENST00000428675.6
    Conserved Domains (4) summary
    cd00275
    Location:720848
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:398688
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    cd13364
    Location:115223
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    cd16222
    Location:243385
    EFh_PRIP1; EF-hand motif found in phospholipase C-related but catalytically inactive protein 1 (PRIP-1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005246643.5XP_005246700.1  inactive phospholipase C-like protein 1 isoform X1

    Related
    ENSP00000457588.1, ENST00000487695.6
    Conserved Domains (6) summary
    cd00275
    Location:646774
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:324614
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    PLN02228
    Location:256776
    PLN02228; Phosphoinositide phospholipase C
    cd13364
    Location:41149
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam00169
    Location:44149
    PH; PH domain
    pfam09279
    Location:241322
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
  2. XM_017004339.3XP_016859828.1  inactive phospholipase C-like protein 1 isoform X2

    Conserved Domains (6) summary
    cd00275
    Location:641769
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:319609
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    PLN02228
    Location:251771
    PLN02228; Phosphoinositide phospholipase C
    cd13364
    Location:36144
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam00169
    Location:39144
    PH; PH domain
    pfam09279
    Location:236317
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
  3. XM_005246644.5XP_005246701.1  inactive phospholipase C-like protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005246701.1

    Related
    ENSP00000414138.3, ENST00000437704.3
    Conserved Domains (6) summary
    cd00275
    Location:641769
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:319609
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    PLN02228
    Location:251771
    PLN02228; Phosphoinositide phospholipase C
    cd13364
    Location:36144
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam00169
    Location:39144
    PH; PH domain
    pfam09279
    Location:236317
    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)