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PAFAH1B3 (platelet activating factor acetylhydrolase 1b catalytic subunit 3)

Identity

Alias_namesplatelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)
platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa
platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)
Other aliasPAFAHG
HGNC (Hugo) PAFAH1B3
LocusID (NCBI) 5050
Atlas_Id 53031
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 42297033 and ends at 42302777 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLK2 (1q22) / PAFAH1B3 (19q13.2)ICE1 (5p15.32) / PAFAH1B3 (19q13.2)PAFAH1B3 (19q13.2) / CLK2 (1q22)
PAFAH1B3 (19q13.2) / ICE1 (5p15.32)PPP1R37 (19q13.32) / PAFAH1B3 (19q13.2)LRRC68 PAFAH1B3 19q13.2

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)PAFAH1B3   8576
Cards
Entrez_Gene (NCBI)PAFAH1B3  5050  platelet activating factor acetylhydrolase 1b catalytic subunit 3
AliasesPAFAHG
GeneCards (Weizmann)PAFAH1B3
Ensembl hg19 (Hinxton)ENSG00000079462 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079462 [Gene_View]  chr19:42297033-42302777 [Contig_View]  PAFAH1B3 [Vega]
ICGC DataPortalENSG00000079462
TCGA cBioPortalPAFAH1B3
AceView (NCBI)PAFAH1B3
Genatlas (Paris)PAFAH1B3
WikiGenes5050
SOURCE (Princeton)PAFAH1B3
Genetics Home Reference (NIH)PAFAH1B3
Genomic and cartography
GoldenPath hg38 (UCSC)PAFAH1B3  -     chr19:42297033-42302777 -  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAFAH1B3  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblPAFAH1B3 - 19q13.2 [CytoView hg19]  PAFAH1B3 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBIPAFAH1B3 [Mapview hg19]  PAFAH1B3 [Mapview hg38]
OMIM603074   
Gene and transcription
Genbank (Entrez)AA432316 BC003016 BC007863 BE048307 CB216829
RefSeq transcript (Entrez)NM_001145939 NM_001145940 NM_002573
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAFAH1B3
Cluster EST : UnigeneHs.466831 [ NCBI ]
CGAP (NCI)Hs.466831
Alternative Splicing GalleryENSG00000079462
Gene ExpressionPAFAH1B3 [ NCBI-GEO ]   PAFAH1B3 [ EBI - ARRAY_EXPRESS ]   PAFAH1B3 [ SEEK ]   PAFAH1B3 [ MEM ]
Gene Expression Viewer (FireBrowse)PAFAH1B3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5050
GTEX Portal (Tissue expression)PAFAH1B3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15102   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15102  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15102
Splice isoforms : SwissVarQ15102
Catalytic activity : Enzyme3.1.1.47 [ Enzyme-Expasy ]   3.1.1.473.1.1.47 [ IntEnz-EBI ]   3.1.1.47 [ BRENDA ]   3.1.1.47 [ KEGG ]   
PhosPhoSitePlusQ15102
Domains : Interpro (EBI)SGNH_hydro   
Domain families : Pfam (Sanger)Lipase_GDSL_2 (PF13472)   
Domain families : Pfam (NCBI)pfam13472   
Conserved Domain (NCBI)PAFAH1B3
DMDM Disease mutations5050
Blocks (Seattle)PAFAH1B3
SuperfamilyQ15102
Human Protein AtlasENSG00000079462
Peptide AtlasQ15102
HPRD04354
IPIIPI00014808   
Protein Interaction databases
DIP (DOE-UCLA)Q15102
IntAct (EBI)Q15102
FunCoupENSG00000079462
BioGRIDPAFAH1B3
STRING (EMBL)PAFAH1B3
ZODIACPAFAH1B3
Ontologies - Pathways
QuickGOQ15102
Ontology : AmiGO1-alkyl-2-acetylglycerophosphocholine esterase activity  phospholipase A2 activity  protein binding  cytoplasm  cytosol  lipid metabolic process  spermatogenesis  nervous system development  brain development  membrane  lipid catabolic process  identical protein binding  protein heterodimerization activity  platelet-activating factor acetyltransferase activity  extracellular exosome  
Ontology : EGO-EBI1-alkyl-2-acetylglycerophosphocholine esterase activity  phospholipase A2 activity  protein binding  cytoplasm  cytosol  lipid metabolic process  spermatogenesis  nervous system development  brain development  membrane  lipid catabolic process  identical protein binding  protein heterodimerization activity  platelet-activating factor acetyltransferase activity  extracellular exosome  
Pathways : KEGGEther lipid metabolism   
NDEx NetworkPAFAH1B3
Atlas of Cancer Signalling NetworkPAFAH1B3
Wikipedia pathwaysPAFAH1B3
Orthology - Evolution
OrthoDB5050
GeneTree (enSembl)ENSG00000079462
Phylogenetic Trees/Animal Genes : TreeFamPAFAH1B3
HOVERGENQ15102
HOGENOMQ15102
Homologs : HomoloGenePAFAH1B3
Homology/Alignments : Family Browser (UCSC)PAFAH1B3
Gene fusions - Rearrangements
Fusion : MitelmanPPP1R37/PAFAH1B3 [19q13.32/19q13.2]  [t(19;19)(q13;q13)]  
Fusion: TCGALRRC68 PAFAH1B3 19q13.2 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAFAH1B3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAFAH1B3
dbVarPAFAH1B3
ClinVarPAFAH1B3
1000_GenomesPAFAH1B3 
Exome Variant ServerPAFAH1B3
ExAC (Exome Aggregation Consortium)PAFAH1B3 (select the gene name)
Genetic variants : HAPMAP5050
Genomic Variants (DGV)PAFAH1B3 [DGVbeta]
DECIPHERPAFAH1B3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAFAH1B3 
Mutations
ICGC Data PortalPAFAH1B3 
TCGA Data PortalPAFAH1B3 
Broad Tumor PortalPAFAH1B3
OASIS PortalPAFAH1B3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAFAH1B3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAFAH1B3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PAFAH1B3
DgiDB (Drug Gene Interaction Database)PAFAH1B3
DoCM (Curated mutations)PAFAH1B3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAFAH1B3 (select a term)
intoGenPAFAH1B3
Cancer3DPAFAH1B3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603074   
Orphanet
MedgenPAFAH1B3
Genetic Testing Registry PAFAH1B3
NextProtQ15102 [Medical]
TSGene5050
GENETestsPAFAH1B3
Target ValidationPAFAH1B3
Huge Navigator PAFAH1B3 [HugePedia]
snp3D : Map Gene to Disease5050
BioCentury BCIQPAFAH1B3
ClinGenPAFAH1B3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5050
Chemical/Pharm GKB GenePA32907
Clinical trialPAFAH1B3
Miscellaneous
canSAR (ICR)PAFAH1B3 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAFAH1B3
EVEXPAFAH1B3
GoPubMedPAFAH1B3
iHOPPAFAH1B3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:23:37 CEST 2017

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