Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PLCH1 Gene

Aliases for PLCH1 Gene

  • Phospholipase C Eta 1 2 3 5
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Eta-1 2 3
  • Phosphoinositide Phospholipase C-Eta-1 3 4
  • Phospholipase C-Like Protein 3 3 4
  • Phospholipase C-Like 3 2 3
  • Phospholipase C-Eta-1 3 4
  • EC 3.1.4.11 4 61
  • PLC-Eta-1 3 4
  • PLC-L3 3 4
  • PLCL3 3 4
  • Phospholipase C, Eta 1 2
  • Phospholipase C-Eta1a 3
  • Phospholipase C-Eta1b 3
  • PLC Eta 1 3
  • KIAA1069 4

External Ids for PLCH1 Gene

Previous HGNC Symbols for PLCH1 Gene

  • PLCL3

Previous GeneCards Identifiers for PLCH1 Gene

  • GC03M156577
  • GC03M156680
  • GC03M155094
  • GC03M152592

Summaries for PLCH1 Gene

Entrez Gene Summary for PLCH1 Gene

  • PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]

GeneCards Summary for PLCH1 Gene

PLCH1 (Phospholipase C Eta 1) is a Protein Coding gene. Among its related pathways are Inositol phosphate metabolism (KEGG) and Metabolism. GO annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCH2.

UniProtKB/Swiss-Prot for PLCH1 Gene

  • The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes.

Tocris Summary for PLCH1 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCH1 Gene

Genomics for PLCH1 Gene

Regulatory Elements for PLCH1 Gene

Enhancers for PLCH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around PLCH1 on UCSC Golden Path with GeneCards custom track

Promoters for PLCH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for PLCH1 Gene

Chromosome:
3
Start:
155,375,580 bp from pter
End:
155,745,089 bp from pter
Size:
369,510 bases
Orientation:
Minus strand

Genomic View for PLCH1 Gene

Genes around PLCH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCH1 Gene

Proteins for PLCH1 Gene

  • Protein details for PLCH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4KWH8-PLCH1_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1
    Protein Accession:
    Q4KWH8
    Secondary Accessions:
    • Q29RV9
    • Q4KWH9
    • Q68CN0
    • Q86XK4
    • Q9H9U2
    • Q9UPT3

    Protein attributes for PLCH1 Gene

    Size:
    1693 amino acids
    Molecular mass:
    189223 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14129.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PLCH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCH1 Gene

Selected DME Specific Peptides for PLCH1 Gene

Post-translational modifications for PLCH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLCH1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for PLCH1

Domains & Families for PLCH1 Gene

Suggested Antigen Peptide Sequences for PLCH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4KWH8

UniProtKB/Swiss-Prot:

PLCH1_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
  • Contains 2 EF-hand domains.
  • Contains 1 PH domain.
  • Contains 1 PI-PLC X-box domain.
  • Contains 1 PI-PLC Y-box domain.
genes like me logo Genes that share domains with PLCH1: view

Function for PLCH1 Gene

Molecular function for PLCH1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
UniProtKB/Swiss-Prot Function:
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes.

Enzyme Numbers (IUBMB) for PLCH1 Gene

Gene Ontology (GO) - Molecular Function for PLCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS --
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0050429 calcium-dependent phospholipase C activity IDA 15702972
genes like me logo Genes that share ontologies with PLCH1: view
genes like me logo Genes that share phenotypes with PLCH1: view

Animal Model Products

CRISPR Products

miRNA for PLCH1 Gene

miRTarBase miRNAs that target PLCH1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLCH1 Gene

Localization for PLCH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCH1 Gene

Cytoplasm. Membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PLCH1 Gene COMPARTMENTS Subcellular localization image for PLCH1 gene
Compartment Confidence
cytosol 4
plasma membrane 4
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PLCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15702972
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with PLCH1: view

Pathways & Interactions for PLCH1 Gene

genes like me logo Genes that share pathways with PLCH1: view

Pathways by source for PLCH1 Gene

Gene Ontology (GO) - Biological Process for PLCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016042 lipid catabolic process IEA --
GO:0043647 inositol phosphate metabolic process TAS --
GO:0048015 phosphatidylinositol-mediated signaling IDA 15702972
genes like me logo Genes that share ontologies with PLCH1: view

No data available for SIGNOR curated interactions for PLCH1 Gene

Drugs & Compounds for PLCH1 Gene

(2) Drugs for PLCH1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
calcium Nutra 0

(386) Additional Compounds for PLCH1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0

(2) Tocris Compounds for PLCH1 Gene

Compound Action Cas Number
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
U 73122 Phospholipase C inhibitor 112648-68-7
genes like me logo Genes that share compounds with PLCH1: view

Transcripts for PLCH1 Gene

Unigene Clusters for PLCH1 Gene

Phospholipase C, eta 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLCH1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1:
SP2: -
SP3: - - -

Relevant External Links for PLCH1 Gene

GeneLoc Exon Structure for
PLCH1
ECgene alternative splicing isoforms for
PLCH1

Expression for PLCH1 Gene

mRNA expression in normal human tissues for PLCH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLCH1 Gene

This gene is overexpressed in Testis (x6.8), Brain - Anterior cingulate cortex (BA24) (x6.0), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for PLCH1 Gene

This gene is overexpressed in Stomach (12.5), Neutrophil (6.9), and Colon muscle (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLCH1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PLCH1 Gene:

PLCH1

SOURCE GeneReport for Unigene cluster for PLCH1 Gene:

Hs.567423

mRNA Expression by UniProt/SwissProt for PLCH1 Gene:

Q4KWH8-PLCH1_HUMAN
Tissue specificity: Expressed in brain and to a lower extent in lung. In brain, it is found in cerebrum, cerebellum and spinal cord.
genes like me logo Genes that share expression patterns with PLCH1: view

Primer Products

No data available for Protein tissue co-expression partners for PLCH1 Gene

Orthologs for PLCH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLCH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PLCH1 34
  • 88.57 (n)
  • 88.67 (a)
PLCH1 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLCH1 34
  • 80.15 (n)
  • 79.08 (a)
PLCH1 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plch1 34
  • 85.47 (n)
  • 86.76 (a)
Plch1 16
Plch1 35
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PLCH1 34
  • 99.39 (n)
  • 99.11 (a)
PLCH1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plch1 34
  • 84.27 (n)
  • 85.19 (a)
oppossum
(Monodelphis domestica)
Mammalia PLCH1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLCH1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLCH1 34
  • 67.98 (n)
  • 68.29 (a)
PLCH1 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCH1 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plch1 34
  • 65.53 (n)
  • 67.49 (a)
Str.18757 34
zebrafish
(Danio rerio)
Actinopterygii LOC566479 34
  • 61.37 (n)
  • 61.46 (a)
plch1 35
  • 68 (a)
OneToOne
Species where no ortholog for PLCH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PLCH1 Gene

ENSEMBL:
Gene Tree for PLCH1 (if available)
TreeFam:
Gene Tree for PLCH1 (if available)

Paralogs for PLCH1 Gene

Paralogs for PLCH1 Gene

(4) SIMAP similar genes for PLCH1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PLCH1: view

Variants for PLCH1 Gene

Sequence variations from dbSNP and Humsavar for PLCH1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs367154 -- 155,674,246(-) TATTG(C/T)TGCTG intron-variant
rs367155 -- 155,674,243(-) TGCTG(C/T)TGTTT intron-variant
rs370157 -- 155,697,216(+) TAATG(C/T)TGCAA intron-variant
rs371789 -- 155,694,156(+) TTCTG(C/T)TGAGA intron-variant
rs378905 -- 155,697,397(+) TTAGG(C/T)GTATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLCH1 Gene

Variant ID Type Subtype PubMed ID
dgv2623n106 CNV deletion 24896259
dgv782e201 CNV deletion 23290073
dgv833n67 CNV loss 20364138
esv1066703 CNV deletion 17803354
esv1067146 CNV insertion 17803354
esv1964556 CNV deletion 18987734
esv2205471 CNV deletion 18987734
esv2441511 CNV deletion 19546169
esv2587266 CNV deletion 19546169
esv2662421 CNV deletion 23128226
esv2726087 CNV deletion 23290073
esv2726089 CNV deletion 23290073
esv2763309 CNV gain 21179565
esv3304733 CNV mobile element insertion 20981092
esv3309511 CNV mobile element insertion 20981092
esv3328862 CNV insertion 20981092
esv3433279 CNV insertion 20981092
esv3562763 CNV deletion 23714750
esv3598273 CNV loss 21293372
esv3598278 CNV loss 21293372
esv3598279 CNV loss 21293372
esv3598281 CNV loss 21293372
esv7423 CNV loss 19470904
nsv1009618 CNV gain 25217958
nsv1073688 CNV deletion 25765185
nsv1078953 CNV insertion 25765185
nsv1123699 CNV deletion 24896259
nsv1136777 CNV deletion 24896259
nsv1139173 CNV deletion 24896259
nsv474617 CNV novel sequence insertion 20440878
nsv829763 CNV gain 17160897
nsv967244 CNV deletion 23825009

Variation tolerance for PLCH1 Gene

Residual Variation Intolerance Score: 1.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLCH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCH1 Gene

Disorders for PLCH1 Gene

Relevant External Links for PLCH1

Genetic Association Database (GAD)
PLCH1
Human Genome Epidemiology (HuGE) Navigator
PLCH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLCH1

No disorders were found for PLCH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PLCH1 Gene

Publications for PLCH1 Gene

  1. Molecular cloning and characterization of a novel phospholipase C, PLC-eta. (PMID: 15702972) Hwang J.-I. … Suh P.-G. (Biochem. J. 2005) 2 3 4 65
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 3 4 65
  5. A canonical EF-loop directs Ca(2+) -sensitivity in phospholipase C-I^2. (PMID: 24123053) Popovics P. … Stewart A.J. (J. Cell. Biochem. 2014) 3 65

Products for PLCH1 Gene

Sources for PLCH1 Gene

Content
Loading form....