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PAFAH1B1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa))

Identity

Other namesLIS1
LIS2
MDCR
MDS
PAFAH
HGNC (Hugo) PAFAH1B1
LocusID (NCBI) 5048
Location 17p13.3
Location_base_pair Starts at 2496923 and ends at 2588909 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)PAFAH1B1   8574
Cards
Entrez_Gene (NCBI)PAFAH1B1  5048  platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
GeneCards (Weizmann)PAFAH1B1
Ensembl (Hinxton)ENSG00000007168 [Gene_View]  chr17:2496923-2588909 [Contig_View]  PAFAH1B1 [Vega]
AceView (NCBI)PAFAH1B1
Genatlas (Paris)PAFAH1B1
WikiGenes5048
SOURCE (Princeton)NM_000430
Genomic and cartography
GoldenPath (UCSC)PAFAH1B1  -  17p13.3   chr17:2496923-2588909 +  17p13.3   [Description]    (hg19-Feb_2009)
EnsemblPAFAH1B1 - 17p13.3 [CytoView]
Mapping of homologs : NCBIPAFAH1B1 [Mapview]
OMIM247200   601545   607432   
Gene and transcription
Genbank (Entrez)AF208835 AF208836 AF208837 AF208838 AF400434
RefSeq transcript (Entrez)NM_000430
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_009799 NT_010718 NW_001838403 NW_004929405
Consensus coding sequences : CCDS (NCBI)PAFAH1B1
Cluster EST : UnigeneHs.77318 [ NCBI ]
CGAP (NCI)Hs.77318
Alternative Splicing : Fast-db (Paris)GSHG0012123
Alternative Splicing GalleryENSG00000007168
Gene ExpressionPAFAH1B1 [ NCBI-GEO ]     PAFAH1B1 [ SEEK ]   PAFAH1B1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43034 (Uniprot)
NextProtP43034  [Medical]
With graphics : InterProP43034
Splice isoforms : SwissVarP43034 (Swissvar)
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_dimerisation    LisH_dimerisation_subgr    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Related proteins : CluSTrP43034
Domain families : Pfam (Sanger)LisH (PF08513)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08513    pfam00400   
Domain families : Smart (EMBL)LisH (SM00667)  WD40 (SM00320)  
DMDM Disease mutations5048
Blocks (Seattle)P43034
Human Protein AtlasENSG00000007168
Peptide AtlasP43034
HPRD03329
IPIIPI00218728   IPI00760905   IPI00909586   IPI00873228   IPI00953036   
Protein Interaction databases
DIP (DOE-UCLA)P43034
IntAct (EBI)P43034
FunCoupENSG00000007168
BioGRIDPAFAH1B1
InParanoidP43034
Interologous Interaction database P43034
IntegromeDBPAFAH1B1
STRING (EMBL)PAFAH1B1
Ontologies - Pathways
Ontology : AmiGOG2/M transition of mitotic cell cycle  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  astral microtubule  mitotic cell cycle  kinetochore  ameboidal cell migration  acrosome assembly  neuron migration  neuron migration  positive regulation of cytokine-mediated signaling pathway  protein binding  nucleus  nuclear envelope  nucleolus  cytoplasm  centrosome  centrosome  cytosol  cytosol  kinesin complex  microtubule associated complex  cell cortex  microtubule-based process  mitosis  nuclear migration  synaptic transmission  neuroblast proliferation  learning or memory  microtubule binding  retrograde axon cargo 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  nonmotile primary cilium  nuclear membrane  vesicle  regulation of Rho GTPase activity  dynactin binding  osteoclast development  protein homodimerization activity  neuronal cell body  phospholipase binding  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  perinuclear region of cytoplasm  brain morphogenesis  neuromuscular process controlling balance  nuclear envelope disassembly  phosphoprotein binding  establishment of centrosome localization  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  astral microtubule  mitotic cell cycle  kinetochore  ameboidal cell migration  acrosome assembly  neuron migration  neuron migration  positive regulation of cytokine-mediated signaling pathway  protein binding  nucleus  nuclear envelope  nucleolus  cytoplasm  centrosome  centrosome  cytosol  cytosol  kinesin complex  microtubule associated complex  cell cortex  microtubule-based process  mitosis  nuclear migration  synaptic transmission  neuroblast proliferation  learning or memory  microtubule binding  retrograde axon cargo 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  nonmotile primary cilium  nuclear membrane  vesicle  regulation of Rho GTPase activity  dynactin binding  osteoclast development  protein homodimerization activity  neuronal cell body  phospholipase binding  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  perinuclear region of cytoplasm  brain morphogenesis  neuromuscular process controlling balance  nuclear envelope disassembly  phosphoprotein binding  establishment of centrosome localization  
Pathways : BIOCARTALissencephaly gene (LIS1) in neuronal migration and development [Genes]   
Pathways : KEGGEther lipid metabolism   
REACTOMEPAFAH1B1
Protein Interaction DatabasePAFAH1B1
Wikipedia pathwaysPAFAH1B1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PAFAH1B1
SNP (GeneSNP Utah)PAFAH1B1
SNP : HGBasePAFAH1B1
Genetic variants : HAPMAPPAFAH1B1
1000_GenomesPAFAH1B1 
ICGC programENSG00000007168 
Somatic Mutations in Cancer : COSMICPAFAH1B1 
CONAN: Copy Number AnalysisPAFAH1B1 
Mutations and Diseases : HGMDPAFAH1B1
OMIM247200    601545    607432   
GENETestsPAFAH1B1
Disease Genetic AssociationPAFAH1B1
Huge Navigator PAFAH1B1 [HugePedia]  PAFAH1B1 [HugeCancerGEM]
Genomic VariantsPAFAH1B1  PAFAH1B1 [DGVbeta]
Exome VariantPAFAH1B1
dbVarPAFAH1B1
ClinVarPAFAH1B1
snp3D : Map Gene to Disease5048
General knowledge
Homologs : HomoloGenePAFAH1B1
Homology/Alignments : Family Browser (UCSC)PAFAH1B1
Phylogenetic Trees/Animal Genes : TreeFamPAFAH1B1
Chemical/Protein Interactions : CTD5048
Chemical/Pharm GKB GenePA32905
Clinical trialPAFAH1B1
Cancer Resource (Charite)ENSG00000007168
Other databases
Probes
Litterature
PubMed125 Pubmed reference(s) in Entrez
CoreMinePAFAH1B1
iHOPPAFAH1B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 17:02:46 CEST 2014

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