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PLCH1 (phospholipase C eta 1)

Identity

Alias_names5-bisphosphate phosphodiesterase eta-1
PLCL3
Alias_symbol (synonym)KIAA1069
MGC117152
DKFZp434C1372
PLCeta1
Other alias
HGNC (Hugo) PLCH1
LocusID (NCBI) 23007
Atlas_Id 53447
Location 3q25.31  [Link to chromosome band 3q25]
Location_base_pair Starts at 155197671 and ends at 155394105 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CAST (5q15) / PLCH1 (3q25.31)PLCH1 (3q25.31) / C3orf33 (3q25.31)PLCH1 (3q25.31) / SERPINA5 (14q32.13)
PLCH1 (3q25.31) / SKIL (3q26.2)SLC33A1 (3q25.31) / PLCH1 (3q25.31)CAST 5q15 / PLCH1 3q25.31
PLCH1 3q25.31 / C3orf33 3q25.31PLCH1 3q25.31 / SKIL 3q26.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PLCH1   29185
Cards
Entrez_Gene (NCBI)PLCH1  23007  phospholipase C eta 1
AliasesPLCL3
GeneCards (Weizmann)PLCH1
Ensembl hg19 (Hinxton)ENSG00000114805 [Gene_View]  chr3:155197671-155394105 [Contig_View]  PLCH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000114805 [Gene_View]  chr3:155197671-155394105 [Contig_View]  PLCH1 [Vega]
ICGC DataPortalENSG00000114805
TCGA cBioPortalPLCH1
AceView (NCBI)PLCH1
Genatlas (Paris)PLCH1
WikiGenes23007
SOURCE (Princeton)PLCH1
Genetics Home Reference (NIH)PLCH1
Genomic and cartography
GoldenPath hg19 (UCSC)PLCH1  -     chr3:155197671-155394105 -  3q25.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLCH1  -     3q25.31   [Description]    (hg38-Dec_2013)
EnsemblPLCH1 - 3q25.31 [CytoView hg19]  PLCH1 - 3q25.31 [CytoView hg38]
Mapping of homologs : NCBIPLCH1 [Mapview hg19]  PLCH1 [Mapview hg38]
OMIM612835   
Gene and transcription
Genbank (Entrez)AB028992 AK022610 AK096620 AY691170 AY691171
RefSeq transcript (Entrez)NM_001130960 NM_001130961 NM_014996
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)PLCH1
Cluster EST : UnigeneHs.567423 [ NCBI ]
CGAP (NCI)Hs.567423
Alternative Splicing GalleryENSG00000114805
Gene ExpressionPLCH1 [ NCBI-GEO ]   PLCH1 [ EBI - ARRAY_EXPRESS ]   PLCH1 [ SEEK ]   PLCH1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLCH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23007
GTEX Portal (Tissue expression)PLCH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ4KWH8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ4KWH8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ4KWH8
Splice isoforms : SwissVarQ4KWH8
Catalytic activity : Enzyme3.1.4.11 [ Enzyme-Expasy ]   3.1.4.113.1.4.11 [ IntEnz-EBI ]   3.1.4.11 [ BRENDA ]   3.1.4.11 [ KEGG ]   
PhosPhoSitePlusQ4KWH8
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    PH_DOMAIN (PS50003)    PIPLC_X_DOMAIN (PS50007)    PIPLC_Y_DOMAIN (PS50008)   
Domains : Interpro (EBI)C2_dom    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    PH_dom-like    PH_domain    PI-PLC_fam    PLC-eta1    PLC-like_Pdiesterase_TIM-brl    PLC_EF-hand-like    PLipase_C_PInositol-sp_X_dom    PLipase_C_Pinositol-sp_Y   
Domain families : Pfam (Sanger)C2 (PF00168)    EF-hand_7 (PF13499)    EF-hand_like (PF09279)    PI-PLC-X (PF00388)    PI-PLC-Y (PF00387)   
Domain families : Pfam (NCBI)pfam00168    pfam13499    pfam09279    pfam00388    pfam00387   
Domain families : Smart (EMBL)C2 (SM00239)  EFh (SM00054)  PH (SM00233)  PLCXc (SM00148)  PLCYc (SM00149)  
Conserved Domain (NCBI)PLCH1
DMDM Disease mutations23007
Blocks (Seattle)PLCH1
SuperfamilyQ4KWH8
Human Protein AtlasENSG00000114805
Peptide AtlasQ4KWH8
HPRD11438
IPIIPI00175416   IPI00783616   IPI00848061   IPI00889624   
Protein Interaction databases
DIP (DOE-UCLA)Q4KWH8
IntAct (EBI)Q4KWH8
FunCoupENSG00000114805
BioGRIDPLCH1
STRING (EMBL)PLCH1
ZODIACPLCH1
Ontologies - Pathways
QuickGOQ4KWH8
Ontology : AmiGOphosphatidylinositol phospholipase C activity  signal transducer activity  calcium ion binding  cytoplasm  cytosol  plasma membrane  lipid catabolic process  intracellular membrane-bounded organelle  inositol phosphate metabolic process  phosphatidylinositol-mediated signaling  calcium-dependent phospholipase C activity  
Ontology : EGO-EBIphosphatidylinositol phospholipase C activity  signal transducer activity  calcium ion binding  cytoplasm  cytosol  plasma membrane  lipid catabolic process  intracellular membrane-bounded organelle  inositol phosphate metabolic process  phosphatidylinositol-mediated signaling  calcium-dependent phospholipase C activity  
NDEx NetworkPLCH1
Atlas of Cancer Signalling NetworkPLCH1
Wikipedia pathwaysPLCH1
Orthology - Evolution
OrthoDB23007
GeneTree (enSembl)ENSG00000114805
Phylogenetic Trees/Animal Genes : TreeFamPLCH1
HOVERGENQ4KWH8
HOGENOMQ4KWH8
Homologs : HomoloGenePLCH1
Homology/Alignments : Family Browser (UCSC)PLCH1
Gene fusions - Rearrangements
Fusion : MitelmanCAST/PLCH1 [5q15/3q25.31]  [t(3;5)(q25;q15)]  
Fusion : MitelmanPLCH1/C3orf33 [3q25.31/3q25.31]  [t(3;3)(q25;q25)]  
Fusion : MitelmanPLCH1/SKIL [3q25.31/3q26.2]  [t(3;3)(q25;q26)]  
Fusion: TCGACAST 5q15 PLCH1 3q25.31 PRAD
Fusion: TCGAPLCH1 3q25.31 C3orf33 3q25.31 LUAD
Fusion: TCGAPLCH1 3q25.31 SKIL 3q26.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLCH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLCH1
dbVarPLCH1
ClinVarPLCH1
1000_GenomesPLCH1 
Exome Variant ServerPLCH1
ExAC (Exome Aggregation Consortium)PLCH1 (select the gene name)
Genetic variants : HAPMAP23007
Genomic Variants (DGV)PLCH1 [DGVbeta]
DECIPHER (Syndromes)3:155197671-155394105  ENSG00000114805
CONAN: Copy Number AnalysisPLCH1 
Mutations
ICGC Data PortalPLCH1 
TCGA Data PortalPLCH1 
Broad Tumor PortalPLCH1
OASIS PortalPLCH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLCH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLCH1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PLCH1
DgiDB (Drug Gene Interaction Database)PLCH1
DoCM (Curated mutations)PLCH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLCH1 (select a term)
intoGenPLCH1
Cancer3DPLCH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612835   
Orphanet
MedgenPLCH1
Genetic Testing Registry PLCH1
NextProtQ4KWH8 [Medical]
TSGene23007
GENETestsPLCH1
Huge Navigator PLCH1 [HugePedia]
snp3D : Map Gene to Disease23007
BioCentury BCIQPLCH1
ClinGenPLCH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23007
Chemical/Pharm GKB GenePA128394595
Clinical trialPLCH1
Miscellaneous
canSAR (ICR)PLCH1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLCH1
EVEXPLCH1
GoPubMedPLCH1
iHOPPLCH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:42 CET 2017

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