Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)

Identity

Alias_namesMDCR
MDS
platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)
Miller-Dieker syndrome chromosome region
platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Alias_symbol (synonym)LIS1
PAFAH
NudF
HGNC (Hugo) PAFAH1B1
LocusID (NCBI) 5048
Atlas_Id 52321
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 2496923 and ends at 2588909 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACPP (3q22.1) / PAFAH1B1 (17p13.3)ATP6V0E1 (5q35.1) / PAFAH1B1 (17p13.3)PAFAH1B1 (17p13.3) / ADNP (20q13.13)
PAFAH1B1 (17p13.3) / ELOVL7 (5q12.1)PAFAH1B1 (17p13.3) / PAFAH1B1 (17p13.3)PAFAH1B1 (17p13.3) / TAP1 (6p21.32)
PRKCA (17q24.2) / PAFAH1B1 (17p13.3)TRPS1 (8q23.3) / PAFAH1B1 (17p13.3)TRPS1 8q23.3 / PAFAH1B1 17p13.3

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;16)(q32;p13) NDE1/PDGFRB


External links

Nomenclature
HGNC (Hugo)PAFAH1B1   8574
Cards
Entrez_Gene (NCBI)PAFAH1B1  5048  platelet activating factor acetylhydrolase 1b regulatory subunit 1
AliasesLIS1; LIS2; MDCR; MDS; 
PAFAH
GeneCards (Weizmann)PAFAH1B1
Ensembl hg19 (Hinxton)ENSG00000007168 [Gene_View]  chr17:2496923-2588909 [Contig_View]  PAFAH1B1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000007168 [Gene_View]  chr17:2496923-2588909 [Contig_View]  PAFAH1B1 [Vega]
ICGC DataPortalENSG00000007168
TCGA cBioPortalPAFAH1B1
AceView (NCBI)PAFAH1B1
Genatlas (Paris)PAFAH1B1
WikiGenes5048
SOURCE (Princeton)PAFAH1B1
Genetics Home Reference (NIH)PAFAH1B1
Genomic and cartography
GoldenPath hg19 (UCSC)PAFAH1B1  -     chr17:2496923-2588909 +  17p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PAFAH1B1  -     17p13.3   [Description]    (hg38-Dec_2013)
EnsemblPAFAH1B1 - 17p13.3 [CytoView hg19]  PAFAH1B1 - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIPAFAH1B1 [Mapview hg19]  PAFAH1B1 [Mapview hg38]
OMIM601545   607432   
Gene and transcription
Genbank (Entrez)AF208835 AF208836 AF208837 AF208838 AF400434
RefSeq transcript (Entrez)NM_000430
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_009799 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)PAFAH1B1
Cluster EST : UnigeneHs.77318 [ NCBI ]
CGAP (NCI)Hs.77318
Alternative Splicing GalleryENSG00000007168
Gene ExpressionPAFAH1B1 [ NCBI-GEO ]   PAFAH1B1 [ EBI - ARRAY_EXPRESS ]   PAFAH1B1 [ SEEK ]   PAFAH1B1 [ MEM ]
Gene Expression Viewer (FireBrowse)PAFAH1B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5048
GTEX Portal (Tissue expression)PAFAH1B1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43034   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP43034  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP43034
Splice isoforms : SwissVarP43034
PhosPhoSitePlusP43034
Domaine pattern : Prosite (Expaxy)LISH (PS50896)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)Dynein_regulator_LIS1    G-protein_beta_WD-40_rep    LisH    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)LisH (PF08513)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08513    pfam00400   
Domain families : Smart (EMBL)LisH (SM00667)  WD40 (SM00320)  
Conserved Domain (NCBI)PAFAH1B1
DMDM Disease mutations5048
Blocks (Seattle)PAFAH1B1
SuperfamilyP43034
Human Protein AtlasENSG00000007168
Peptide AtlasP43034
HPRD03329
IPIIPI00218728   IPI00760905   IPI00909586   IPI00873228   IPI00953036   
Protein Interaction databases
DIP (DOE-UCLA)P43034
IntAct (EBI)P43034
FunCoupENSG00000007168
BioGRIDPAFAH1B1
STRING (EMBL)PAFAH1B1
ZODIACPAFAH1B1
Ontologies - Pathways
QuickGOP43034
Ontology : AmiGOG2/M transition of mitotic cell cycle  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  astral microtubule  kinetochore  ameboidal-type cell migration  acrosome assembly  neuron migration  neuron migration  positive regulation of cytokine-mediated signaling pathway  phospholipase A2 activity  protein binding  nuclear envelope  centrosome  centrosome  cytosol  cytosol  kinesin complex  microtubule associated complex  cell cortex  microtubule-based process  sister chromatid cohesion  mitotic nuclear division  nuclear migration  synaptic transmission  germ cell development  neuroblast proliferation  learning or memory  microtubule binding  microtubule binding  retrograde axonal transport  retrograde axonal transport  heparin binding  adult locomotory behavior  protein secretion  negative regulation of neuron projection development  lipid catabolic process  stem cell division  transmission of nerve impulse  corpus callosum morphogenesis  hippocampus development  layer formation in cerebral cortex  cerebral cortex neuron differentiation  cerebral cortex development  actin cytoskeleton organization  growth cone  microtubule organizing center organization  cell leading edge  motile primary cilium  nuclear membrane  dynactin binding  osteoclast development  positive regulation of embryonic development  establishment of planar polarity of embryonic epithelium  protein homodimerization activity  neuronal cell body  regulation of GTPase activity  phospholipase binding  cortical microtubule organization  dynein binding  dynein intermediate chain binding  positive regulation of axon extension  positive regulation of mitotic cell cycle  negative regulation of JNK cascade  platelet activating factor metabolic process  vesicle transport along microtubule  vesicle transport along microtubule  perinuclear region of cytoplasm  brain morphogenesis  neuromuscular process controlling balance  nuclear envelope disassembly  phosphoprotein binding  establishment of centrosome localization  auditory receptor cell development  positive regulation of dendritic spine morphogenesis  extracellular exosome  regulation of microtubule cytoskeleton organization  cochlea development  microtubule cytoskeleton organization involved in establishment of planar polarity  axon cytoplasm  axon cytoplasm  axon cytoplasm  regulation of microtubule motor activity  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  astral microtubule  kinetochore  ameboidal-type cell migration  acrosome assembly  neuron migration  neuron migration  positive regulation of cytokine-mediated signaling pathway  phospholipase A2 activity  protein binding  nuclear envelope  centrosome  centrosome  cytosol  cytosol  kinesin complex  microtubule associated complex  cell cortex  microtubule-based process  sister chromatid cohesion  mitotic nuclear division  nuclear migration  synaptic transmission  germ cell development  neuroblast proliferation  learning or memory  microtubule binding  microtubule binding  retrograde axonal transport  retrograde axonal transport  heparin binding  adult locomotory behavior  protein secretion  negative regulation of neuron projection development  lipid catabolic process  stem cell division  transmission of nerve impulse  corpus callosum morphogenesis  hippocampus development  layer formation in cerebral cortex  cerebral cortex neuron differentiation  cerebral cortex development  actin cytoskeleton organization  growth cone  microtubule organizing center organization  cell leading edge  motile primary cilium  nuclear membrane  dynactin binding  osteoclast development  positive regulation of embryonic development  establishment of planar polarity of embryonic epithelium  protein homodimerization activity  neuronal cell body  regulation of GTPase activity  phospholipase binding  cortical microtubule organization  dynein binding  dynein intermediate chain binding  positive regulation of axon extension  positive regulation of mitotic cell cycle  negative regulation of JNK cascade  platelet activating factor metabolic process  vesicle transport along microtubule  vesicle transport along microtubule  perinuclear region of cytoplasm  brain morphogenesis  neuromuscular process controlling balance  nuclear envelope disassembly  phosphoprotein binding  establishment of centrosome localization  auditory receptor cell development  positive regulation of dendritic spine morphogenesis  extracellular exosome  regulation of microtubule cytoskeleton organization  cochlea development  microtubule cytoskeleton organization involved in establishment of planar polarity  axon cytoplasm  axon cytoplasm  axon cytoplasm  regulation of microtubule motor activity  
Pathways : BIOCARTALissencephaly gene (LIS1) in neuronal migration and development [Genes]   
Pathways : KEGGEther lipid metabolism   
NDEx NetworkPAFAH1B1
Atlas of Cancer Signalling NetworkPAFAH1B1
Wikipedia pathwaysPAFAH1B1
Orthology - Evolution
OrthoDB5048
GeneTree (enSembl)ENSG00000007168
Phylogenetic Trees/Animal Genes : TreeFamPAFAH1B1
HOVERGENP43034
HOGENOMP43034
Homologs : HomoloGenePAFAH1B1
Homology/Alignments : Family Browser (UCSC)PAFAH1B1
Gene fusions - Rearrangements
Fusion : MitelmanTRPS1/PAFAH1B1 [8q23.3/17p13.3]  [t(8;17)(q23;p13)]  
Fusion: TCGATRPS1 8q23.3 PAFAH1B1 17p13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAFAH1B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAFAH1B1
dbVarPAFAH1B1
ClinVarPAFAH1B1
1000_GenomesPAFAH1B1 
Exome Variant ServerPAFAH1B1
ExAC (Exome Aggregation Consortium)PAFAH1B1 (select the gene name)
Genetic variants : HAPMAP5048
Genomic Variants (DGV)PAFAH1B1 [DGVbeta]
DECIPHER (Syndromes)17:2496923-2588909  ENSG00000007168
CONAN: Copy Number AnalysisPAFAH1B1 
Mutations
ICGC Data PortalPAFAH1B1 
TCGA Data PortalPAFAH1B1 
Broad Tumor PortalPAFAH1B1
OASIS PortalPAFAH1B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAFAH1B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAFAH1B1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PAFAH1B1
DgiDB (Drug Gene Interaction Database)PAFAH1B1
DoCM (Curated mutations)PAFAH1B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAFAH1B1 (select a term)
intoGenPAFAH1B1
Cancer3DPAFAH1B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601545    607432   
Orphanet18852    4054    12582    14369   
MedgenPAFAH1B1
Genetic Testing Registry PAFAH1B1
NextProtP43034 [Medical]
TSGene5048
GENETestsPAFAH1B1
Huge Navigator PAFAH1B1 [HugePedia]
snp3D : Map Gene to Disease5048
BioCentury BCIQPAFAH1B1
ClinGenPAFAH1B1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5048
Chemical/Pharm GKB GenePA32905
Clinical trialPAFAH1B1
Miscellaneous
canSAR (ICR)PAFAH1B1 (select the gene name)
Probes
Litterature
PubMed131 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAFAH1B1
EVEXPAFAH1B1
GoPubMedPAFAH1B1
iHOPPAFAH1B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:46:45 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.