Aliases for PLCL1 Gene

Aliases for PLCL1 Gene

  • Phospholipase C Like 1 (Inactive) 2 3 5
  • PRIP 2 3 4
  • Phospholipase C-Related But Catalytically Inactive Protein 3 4
  • Protein Phosphatase 1, Regulatory Subunit 127 2 3
  • Phospholipase C-Deleted In Lung Carcinoma 3 4
  • Inactive Phospholipase C-Like Protein 1 3 4
  • Phospholipase C, Epsilon 2 3
  • Phospholipase C-Like 1 2 3
  • PPP1R127 2 3
  • PLC-L1 3 4
  • PLCL 2 3
  • Phospholipase C Related, But Catalytically Inactive Protein 2
  • Phospholipase C Like 1 2
  • PLDL1 3
  • PLCL1 5
  • PLC-L 2
  • PLCE 3

External Ids for PLCL1 Gene

Previous HGNC Symbols for PLCL1 Gene

  • PLCE

Previous GeneCards Identifiers for PLCL1 Gene

  • GC02P197147
  • GC02P197661
  • GC02P198912
  • GC02P199151
  • GC02P199033
  • GC02P198774
  • GC02P198523
  • GC02P198377
  • GC02P198669
  • GC02P190521

Summaries for PLCL1 Gene

GeneCards Summary for PLCL1 Gene

PLCL1 (Phospholipase C Like 1 (Inactive)) is a Protein Coding gene. Diseases associated with PLCL1 include Glass Syndrome and Astigmatism. Among its related pathways are VEGF Signaling and Proton Pump Inhibitor Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCL2.

UniProtKB/Swiss-Prot Summary for PLCL1 Gene

  • Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol. Component in the phospho-dependent endocytosis process of GABA A receptor (By similarity). Regulates the turnover of receptors and thus contributes to the maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and progression of lung carcinoma. Acts as an inhibitor of PPP1C.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLCL1 Gene

Genomics for PLCL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLCL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J197803 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 615.7 +2.0 2008 6 SP1 TEAD4 PRDM10 REST IKZF1 KDM1A FOS LARP7 DDX20 ZNF143 PLCL1 LOC105373828 SF3B1 ANKRD44 RFTN2 ENSG00000286020
GH02J197805 Enhancer 0.6 ENCODE 600.7 -1.4 -1411 0.2 CTCF STAT3 ZNF143 REST RAD21 BRD9 TRIM22 SCRT2 HMBOX1 SMC3 LOC105373828 PLCL1 BOLL lnc-BOLL-4
GH02J197804 Enhancer 0.6 ENCODE 600.7 -1.2 -1205 0.1 CTCF STAT3 ZNF143 BRD9 TRIM22 RAD21 HMBOX1 ZNF592 RB1 TBL1XR1 LOC105373828 PLCL1 BOLL lnc-BOLL-4
GH02J197704 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 12.8 -98.0 -97964 4.7 SP1 HNRNPL CTCF TFE3 POLR2A LARP7 ZIC2 RBFOX2 RXRB PATZ1 MARS2 lnc-BOLL-1 piR-36682 SF3B1 PLCL1 GTF3C3 NPM1P46 RFTN2 ENSG00000222017 BOLL
GH02J197495 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 8.8 -305.0 -304993 8 BRCA1 SP1 HNRNPL CREB1 GATAD2A ATF7 YBX1 PRDM10 REST ZNF629 HSPE1 HSPE1-MOB4 NONHSAG030178.2 HSPD1 MOB4 GTF3C3 RNU6-1029P SF3B1 ANKRD44 ENSG00000202434
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLCL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLCL1

Top Transcription factor binding sites by QIAGEN in the PLCL1 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • Cdc5
  • Ik-2
  • MIF-1
  • NF-kappaB
  • Pax-6
  • SRY

Genomic Locations for PLCL1 Gene

Genomic Locations for PLCL1 Gene
chr2:197,804,593-198,572,581
(GRCh38/hg38)
Size:
767,989 bases
Orientation:
Plus strand
chr2:198,669,426-199,437,305
(GRCh37/hg19)
Size:
767,880 bases
Orientation:
Plus strand

Genomic View for PLCL1 Gene

Genes around PLCL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCL1 Gene

Proteins for PLCL1 Gene

  • Protein details for PLCL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15111-PLCL1_HUMAN
    Recommended name:
    Inactive phospholipase C-like protein 1
    Protein Accession:
    Q15111
    Secondary Accessions:
    • Q3MJ90
    • Q53SD3
    • Q7Z3S3

    Protein attributes for PLCL1 Gene

    Size:
    1095 amino acids
    Molecular mass:
    122728 Da
    Quaternary structure:
    • Interacts with PPP2CA (By similarity). Interacts with Ins(1,4,5)P3, Ins(1,4,5,6)P4, GABARAP, GABA receptor beta subunits, GABA receptor gamma-2 subunits and PPP1C. May form a ternary complex with GABA receptor beta subunit and GABARAP. The formation of a ternary complex with GABA receptor beta subunit and GABARAP could be the key step for facilitating the association of GABARAP with the GABA receptor gamma-2 subunit and to allow it to be transported at the right destination.

    Alternative splice isoforms for PLCL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCL1 Gene

Post-translational modifications for PLCL1 Gene

  • Phosphorylated by the catalytic subunit of PKA. Phosphorylation of Thr-93 resulted in dissociation of PPP1C from PRIP1 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PLCL1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PLCL1

No data available for DME Specific Peptides for PLCL1 Gene

Domains & Families for PLCL1 Gene

Gene Families for PLCL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for PLCL1 Gene

InterPro:
Blocks:
  • C2 domain
  • Pleckstrin-like
  • Phosphatidylinositol-specific phospholipase C, X domain
ProtoNet:

Suggested Antigen Peptide Sequences for PLCL1 Gene

GenScript: Design optimal peptide antigens:
  • Phospholipase C-related but catalytically inactive protein (PLCL1_HUMAN)
genes like me logo Genes that share domains with PLCL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLCL1 Gene

Function for PLCL1 Gene

Molecular function for PLCL1 Gene

UniProtKB/Swiss-Prot Function:
Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol. Component in the phospho-dependent endocytosis process of GABA A receptor (By similarity). Regulates the turnover of receptors and thus contributes to the maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and progression of lung carcinoma. Acts as an inhibitor of PPP1C.

Phenotypes From GWAS Catalog for PLCL1 Gene

Gene Ontology (GO) - Molecular Function for PLCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity IEA --
GO:0004629 phospholipase C activity TAS 7633416
GO:0008081 phosphoric diester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0050811 GABA receptor binding IEA --
genes like me logo Genes that share ontologies with PLCL1: view
genes like me logo Genes that share phenotypes with PLCL1: view

Animal Models for PLCL1 Gene

MGI Knock Outs for PLCL1:

Animal Model Products

CRISPR Products

miRNA for PLCL1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLCL1 Gene

Localization for PLCL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCL1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLCL1 gene
Compartment Confidence
plasma membrane 3
cytosol 3
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for PLCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with PLCL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLCL1 Gene

Pathways & Interactions for PLCL1 Gene

genes like me logo Genes that share pathways with PLCL1: view

Pathways by source for PLCL1 Gene

3 Sino Biological pathways for PLCL1 Gene
1 PharmGKB pathway for PLCL1 Gene
1 KEGG pathway for PLCL1 Gene
1 GeneTex pathway for PLCL1 Gene

Gene Ontology (GO) - Biological Process for PLCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0007214 gamma-aminobutyric acid signaling pathway IEA --
GO:0016042 lipid catabolic process IEA --
GO:0032228 regulation of synaptic transmission, GABAergic IEA --
genes like me logo Genes that share ontologies with PLCL1: view

No data available for SIGNOR curated interactions for PLCL1 Gene

Drugs & Compounds for PLCL1 Gene

(4) Drugs for PLCL1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Quinacrine Investigational Pharma Target, inhibitor 6

(1) Additional Compounds for PLCL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PLCL1: view

Transcripts for PLCL1 Gene

mRNA/cDNA for PLCL1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCL1

Alternative Splicing Database (ASD) splice patterns (SP) for PLCL1 Gene

No ASD Table

Relevant External Links for PLCL1 Gene

GeneLoc Exon Structure for
PLCL1

Expression for PLCL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLCL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLCL1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.5) and Heart - Left Ventricle (x5.1).

Protein differential expression in normal tissues from HIPED for PLCL1 Gene

This gene is overexpressed in Spinal cord (15.3), Prostate (10.8), Frontal cortex (9.0), and Heart (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLCL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLCL1

SOURCE GeneReport for Unigene cluster for PLCL1 Gene:

Hs.153322

mRNA Expression by UniProt/SwissProt for PLCL1 Gene:

Q15111-PLCL1_HUMAN
Tissue specificity: Expressed in a variety of fetal and adult organs including brain, lung and kidney. Its expression was greatly reduced in small and non-small cell lung carcinoma. Isoform 1 is predominantly expressed in brain.

Evidence on tissue expression from TISSUES for PLCL1 Gene

  • Nervous system(4.6)
  • Heart(2.8)
  • Muscle(2.7)
  • Kidney(2.3)
  • Skin(2)
genes like me logo Genes that share expression patterns with PLCL1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCL1 Gene

Orthologs for PLCL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLCL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLCL1 30 31
  • 99.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLCL1 30 31
  • 92.36 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLCL1 31
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PLCL1 30 31
  • 91.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plcl1 30
  • 88.13 (n)
Mouse
(Mus musculus)
Mammalia Plcl1 30 17 31
  • 88.07 (n)
OneToOne
Chicken
(Gallus gallus)
Aves PLCL1 30 31
  • 79.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLCL1 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plcl1 30
  • 74.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii plcl1 31
  • 53 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea pll-1 31
  • 40 (a)
ManyToMany
plc-4 31
  • 32 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
Species where no ortholog for PLCL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PLCL1 Gene

ENSEMBL:
Gene Tree for PLCL1 (if available)
TreeFam:
Gene Tree for PLCL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLCL1: view image

Paralogs for PLCL1 Gene

(8) SIMAP similar genes for PLCL1 Gene using alignment to 3 proteins:

  • PLCL1_HUMAN
  • F8WAR2_HUMAN
  • H3BUD4_HUMAN
genes like me logo Genes that share paralogs with PLCL1: view

Variants for PLCL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLCL1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
726945 Likely Benign: not provided 198,085,503(+) T/C SYNONYMOUS_VARIANT
728220 Benign: not provided 198,085,563(+) G/T SYNONYMOUS_VARIANT
775803 Benign: not provided 198,101,320(+) G/A SYNONYMOUS_VARIANT
rs1064213 - p.Val667Ile
rs45452996 - p.Ser937Asn

Additional dbSNP identifiers (rs#s) for PLCL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLCL1 Gene

Variant ID Type Subtype PubMed ID
dgv2126n106 CNV deletion 24896259
esv1252338 CNV insertion 17803354
esv1623532 CNV insertion 17803354
esv2008876 CNV deletion 18987734
esv2572769 CNV insertion 19546169
esv2576992 CNV deletion 19546169
esv2632650 CNV deletion 19546169
esv2659675 CNV deletion 23128226
esv2671075 CNV deletion 23128226
esv2721338 CNV deletion 23290073
esv2721340 CNV deletion 23290073
esv2721341 CNV deletion 23290073
esv2721342 CNV deletion 23290073
esv3303882 CNV mobile element insertion 20981092
esv3308075 CNV mobile element insertion 20981092
esv3399296 CNV insertion 20981092
esv3560796 CNV deletion 23714750
esv3584264 CNV loss 25503493
esv3584265 CNV loss 25503493
esv3584266 CNV loss 25503493
esv3584267 CNV loss 25503493
esv3593914 CNV loss 21293372
esv3593915 CNV gain 21293372
esv3593917 CNV loss 21293372
esv3593919 CNV loss 21293372
esv988447 CNV deletion 20482838
nsv1009134 CNV gain 25217958
nsv1116820 CNV deletion 24896259
nsv1125712 CNV tandem duplication 24896259
nsv1125759 CNV deletion 24896259
nsv1149389 CNV deletion 26484159
nsv3100 CNV insertion 18451855
nsv3101 CNV deletion 18451855
nsv460016 CNV gain 19166990
nsv507059 OTHER sequence alteration 20534489
nsv584157 CNV gain 21841781
nsv834506 CNV gain 17160897
nsv834507 CNV gain 17160897

Variation tolerance for PLCL1 Gene

Residual Variation Intolerance Score: 5.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.72; 95.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLCL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCL1 Gene

Disorders for PLCL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PLCL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
glass syndrome
  • glass
astigmatism
tracheal stenosis
  • stenosis of trachea
tracheal disease
  • tracheal anomaly
- elite association - COSMIC cancer census association via MalaCards
Search PLCL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLCL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PLCL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLCL1 Gene

Publications for PLCL1 Gene

  1. PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women. (PMID: 20030815) Cauchi S … Froguel P (BMC medical genetics 2009) 3 23 41
  2. Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study. (PMID: 18776929) Liu YZ … Deng HW (PloS one 2008) 3 23 41
  3. Identification of a novel phospholipase C family gene at chromosome 2q33 that is homozygously deleted in human small cell lung carcinoma. (PMID: 7633416) Kohno T … Yokota J (Human molecular genetics 1995) 2 3 4
  4. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PMID: 22219177) Tao S … Sun J (Carcinogenesis 2012) 3 41
  5. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V … Ndung'u T (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2011) 3 41

Products for PLCL1 Gene

Sources for PLCL1 Gene