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

Gene ID: 5334, updated on 23-Nov-2021

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
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
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:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (197804593..198149873)
105.20201022 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 methionyl-tRNA synthetase 2, mitochondrial 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

Associated conditions

Description Tests
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
GeneReviews: Not available
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
GeneReviews: Not available
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
GeneReviews: Not available
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
GeneReviews: Not available
Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study.
GeneReviews: Not available
Integrative genome-wide association analysis of cytoarchitectural abnormalities in the prefrontal cortex of psychiatric disorders.
GeneReviews: Not available
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
GeneReviews: Not available
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
GeneReviews: Not available

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 peptidyl-serine phosphorylation 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
 
located_in plasma membrane 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
    Related
    ENSP00000402861.1, ENST00000428675.6
    Conserved Domains (6) 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
    PLN02228
    Location:330850
    PLN02228; Phosphoinositide phospholipase C
    cd13364
    Location:115223
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam00169
    Location:118223
    PH; PH domain
    pfam09279
    Location:315396
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    197804593..198149873
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511351.2XP_011509653.1  inactive phospholipase C-like protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011509653.1

    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
  2. XM_005246643.4XP_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
  3. XM_017004340.2XP_016859829.1  inactive phospholipase C-like protein 1 isoform X4

    UniProtKB/Swiss-Prot
    Q15111
    Related
    ENSP00000414138.3, ENST00000437704.3
    Conserved Domains (6) summary
    cd00275
    Location:622750
    C2_PLC_like; C2 domain present in Phosphoinositide-specific phospholipases C (PLC)
    cd08597
    Location:300590
    PI-PLCc_PRIP_metazoa; Catalytic domain of metazoan phospholipase C related, but catalytically inactive protein
    PLN02228
    Location:232752
    PLN02228; Phosphoinositide phospholipase C
    cd13364
    Location:17125
    PH_PLC_eta; Phospholipase C-eta (PLC-eta) pleckstrin homology (PH) domain
    pfam00169
    Location:20125
    PH; PH domain
    pfam09279
    Location:217298
    EF-hand_like; Phosphoinositide-specific phospholipase C, efhand-like
  4. XM_017004339.2XP_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
  5. XM_005246644.4XP_005246701.1  inactive phospholipase C-like protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005246701.1

    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
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