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Aliases for PLCH1 Gene

Aliases for PLCH1 Gene

  • Phospholipase C, Eta 1 2 3
  • PLCL3 3 4 6
  • 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 64
  • PLC-Eta-1 3 4
  • KIAA1069 4 6
  • PLC-L3 3 4
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Eta-1 3
  • 1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Eta-1 3
  • Phospholipase C-Eta1a 3
  • Phospholipase C-Eta1b 3
  • PLC Eta 1 3

External Ids for PLCH1 Gene

Previous Symbols for PLCH1 Gene

  • PLCL3

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 Phospholipase-C Pathway and Metabolism. GO annotations related to this gene include calcium ion binding and signal transducer activity. An important paralog of this gene is PLCB3.

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. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and 1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane phospholipids.

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

Genomics for PLCH1 Gene

Genomic Location for PLCH1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCH1 Gene

Regulatory Elements 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

Proteomics data for PLCH1 Gene at MOPED

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

Domains for PLCH1 Gene

Gene Families for PLCH1 Gene

HGNC:
  • EFHAND :EF-hand domain containing
IUPHAR :

UniProtKB/Swiss-Prot:

PLCH1_HUMAN
Domain:
  • Contains 1 C2 domain.:
    • Q4KWH8
  • Contains 2 EF-hand domains.:
    • Q4KWH8
  • Contains 1 PH domain.:
    • Q4KWH8
  • Contains 1 PI-PLC X-box domain.:
    • Q4KWH8
  • Contains 1 PI-PLC Y-box domain.:
    • Q4KWH8
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 IEA --
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
GO:0008081 phosphoric diester hydrolase activity --
genes like me logo Genes that share ontologies with PLCH1: view

Phenotypes for PLCH1 Gene

GenomeRNAi human phenotypes for PLCH1:
genes like me logo Genes that share phenotypes with PLCH1: view

No data available for Animal Models , miRNA , Transcription Factor Targeting 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
nucleus 4
plasma membrane 4
cytosol 3
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 --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with PLCH1: view

Pathways for PLCH1 Gene

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

Gene Ontology (GO) - Biological Process for PLCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0007165 signal transduction --
GO:0016042 lipid catabolic process IEA --
GO:0035556 intracellular signal transduction --
GO:0043647 inositol phosphate metabolic process TAS --
genes like me logo Genes that share ontologies with PLCH1: view

Compounds for PLCH1 Gene

(5) Tocris Compounds for PLCH1 Gene

Compound Action Cas Number
D609 Selective PC-PLC inhibitor [83373-60-8]
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist [77286-66-9]
FIPI Phospholipase D inhibitor [939055-18-2]
m-3M3FBS Phospholipase C activator [200933-14-8]
U 73343 Inactive analog of U 73122 (Cat. No. 1268) [142878-12-4]

(1223) HMDB Compounds for PLCH1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
DG(14:0/14:0/0:0)
  • DAG(14:0/14:0)
Not Available
DG(14:0/14:1(9Z)/0:0)
  • DAG(14:0/14:1)
Not Available
DG(14:0/15:0/0:0)
  • Diacylglycerol(29:0)
Not Available
DG(14:0/16:0/0:0)
  • DAG(30:0)
Not Available
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:

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 (6.8), Brain - Anterior cingulate cortex (BA24) (6.0), and Brain - Frontal Cortex (BA9) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PLCH1 Gene

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 expressions with PLCH1: view

Orthologs for PLCH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PLCH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLCH1 36
  • 99.39 (n)
  • 99.11 (a)
PLCH1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLCH1 36
  • 88.57 (n)
  • 88.67 (a)
PLCH1 37
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLCH1 36
  • 80.15 (n)
  • 79.08 (a)
PLCH1 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plch1 36
  • 85.47 (n)
  • 86.76 (a)
Plch1 16
Plch1 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLCH1 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLCH1 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plch1 36
  • 84.27 (n)
  • 85.19 (a)
chicken
(Gallus gallus)
Aves PLCH1 36
  • 67.98 (n)
  • 68.29 (a)
PLCH1 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCH1 37
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plch1 36
  • 65.53 (n)
  • 67.49 (a)
Str.18757 36
zebrafish
(Danio rerio)
Actinopterygii LOC566479 36
  • 61.37 (n)
  • 61.46 (a)
plch1 37
  • 68 (a)
OneToOne
Species with no ortholog for PLCH1:
  • 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

Selected 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 MAF
rs117442 -- 155,708,670(-) TCAAA(C/T)TGGAT intron-variant
rs168601 -- 155,552,539(-) gaaca(A/C)ccttc intron-variant
rs171449 -- 155,705,398(-) AAGAG(A/G)AAGTG upstream-variant-2KB, intron-variant
rs173369 -- 155,701,320(+) ATATG(C/G)TTTAT intron-variant
rs173370 -- 155,732,111(+) tatca(A/T)tgttt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv877679 CNV Gain 21882294
esv2441511 CNV Deletion 19546169
esv2662421 CNV Deletion 23128226
esv2205471 CNV Deletion 18987734
dgv829e201 CNV Deletion 23290073
esv2726087 CNV Deletion 23290073
dgv833n67 CNV Loss 20364138
esv273783 CNV Insertion 20981092
esv269011 CNV Insertion 20981092
esv1067146 CNV Insertion 17803354
esv2587266 CNV Deletion 19546169
esv2726089 CNV Deletion 23290073
esv1964556 CNV Deletion 18987734
esv1066703 CNV Deletion 17803354
esv7423 CNV Loss 19470904
nsv829763 CNV Gain 17160897

Relevant External Links for PLCH1 Gene

HapMap Linkage Disequilibrium report
PLCH1

Disorders for PLCH1 Gene

Relevant External Links for PLCH1

Genetic Association Database (GAD)
PLCH1
Human Genome Epidemiology (HuGE) Navigator
PLCH1
genes like me logo Genes that share disorders with PLCH1: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. 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 49
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Phosphoproteomic analysis of the developing mouse brain. (PMID: 15345747) Ballif B.A. … Gygi S.P. (Mol. Cell Proteomics 2004) 3

Products for PLCH1 Gene

Sources for PLCH1 Gene

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