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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
Other aliasLIS2
HGNC (Hugo) PAFAH1B1
LocusID (NCBI) 5048
Atlas_Id 52321
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 2593629 and ends at 2685615 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(8;17)(q23;p13) TRPS1/PAFAH1B1
PAFAH1B1/USP6 (17p13)

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; 
NudF; PAFAH
GeneCards (Weizmann)PAFAH1B1
Ensembl hg19 (Hinxton)ENSG00000007168 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000007168 [Gene_View]  ENSG00000007168 [Sequence]  chr17:2593629-2685615 [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 hg38 (UCSC)PAFAH1B1  -     chr17:2593629-2685615 +  17p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAFAH1B1  -     17p13.3   [Description]    (hg19-Feb_2009)
GoldenPathPAFAH1B1 - 17p13.3 [CytoView hg19]  PAFAH1B1 - 17p13.3 [CytoView hg38]
ImmunoBaseENSG00000007168
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)
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5048
GTEX Portal (Tissue expression)PAFAH1B1
Human Protein AtlasENSG00000007168-PAFAH1B1 [pathology]   [cell]   [tissue]
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    LIS1_N    LisH    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
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 Atlas [tissue]ENSG00000007168-PAFAH1B1 [tissue]
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  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  astral microtubule  kinetochore  kinetochore  ameboidal-type cell migration  acrosome assembly  neuron migration  neuron migration  positive regulation of cytokine-mediated signaling pathway  protein binding  nuclear envelope  nuclear envelope  centrosome  centrosome  cytosol  cytosol  kinesin complex  microtubule associated complex  microtubule associated complex  cytoplasmic microtubule  cell cortex  microtubule-based process  nuclear migration  chemical synaptic transmission  neuroblast proliferation  learning or memory  microtubule binding  retrograde axonal transport  retrograde axonal transport  heparin binding  adult locomotory behavior  protein secretion  regulation of G2/M transition of mitotic cell cycle  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  microtubule organizing center organization  microtubule organizing center organization  cell leading edge  motile cilium  nuclear membrane  stereocilium  dynactin binding  osteoclast development  positive regulation of embryonic development  establishment of planar polarity of embryonic epithelium  protein homodimerization activity  neuron projection  neuronal cell body  regulation of GTPase activity  phospholipase binding  cortical microtubule organization  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  brain morphogenesis  neuromuscular process controlling balance  microtubule plus-end binding  microtubule sliding  nuclear envelope disassembly  phosphoprotein binding  establishment of centrosome localization  maintenance of centrosome location  auditory receptor cell development  positive regulation of dendritic spine morphogenesis  extracellular exosome  regulation of microtubule cytoskeleton organization  dynein complex binding  dynein complex binding  cochlea development  microtubule cytoskeleton organization involved in establishment of planar polarity  central region of growth cone  ciliary basal body-plasma membrane docking  axon cytoplasm  regulation of microtubule motor activity  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  establishment of mitotic spindle orientation  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  astral microtubule  kinetochore  kinetochore  ameboidal-type cell migration  acrosome assembly  neuron migration  neuron migration  positive regulation of cytokine-mediated signaling pathway  protein binding  nuclear envelope  nuclear envelope  centrosome  centrosome  cytosol  cytosol  kinesin complex  microtubule associated complex  microtubule associated complex  cytoplasmic microtubule  cell cortex  microtubule-based process  nuclear migration  chemical synaptic transmission  neuroblast proliferation  learning or memory  microtubule binding  retrograde axonal transport  retrograde axonal transport  heparin binding  adult locomotory behavior  protein secretion  regulation of G2/M transition of mitotic cell cycle  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  microtubule organizing center organization  microtubule organizing center organization  cell leading edge  motile cilium  nuclear membrane  stereocilium  dynactin binding  osteoclast development  positive regulation of embryonic development  establishment of planar polarity of embryonic epithelium  protein homodimerization activity  neuron projection  neuronal cell body  regulation of GTPase activity  phospholipase binding  cortical microtubule organization  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  brain morphogenesis  neuromuscular process controlling balance  microtubule plus-end binding  microtubule sliding  nuclear envelope disassembly  phosphoprotein binding  establishment of centrosome localization  maintenance of centrosome location  auditory receptor cell development  positive regulation of dendritic spine morphogenesis  extracellular exosome  regulation of microtubule cytoskeleton organization  dynein complex binding  dynein complex binding  cochlea development  microtubule cytoskeleton organization involved in establishment of planar polarity  central region of growth cone  ciliary basal body-plasma membrane docking  axon cytoplasm  regulation of microtubule motor activity  
Pathways : KEGGEther lipid metabolism   
NDEx NetworkPAFAH1B1
Atlas of Cancer Signalling NetworkPAFAH1B1
Wikipedia pathwaysPAFAH1B1
Orthology - Evolution
OrthoDB5048
GeneTree (enSembl)ENSG00000007168
Phylogenetic Trees/Animal Genes : TreeFamPAFAH1B1
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 PortalTRPS1 8q23.3 PAFAH1B1 17p13.3 BRCA
Fusion : QuiverPAFAH1B1
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)ENSG00000007168
GNOMAD BrowserENSG00000007168
Varsome BrowserPAFAH1B1
Genetic variants : HAPMAP5048
Genomic Variants (DGV)PAFAH1B1 [DGVbeta]
DECIPHERPAFAH1B1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DPAFAH1B1
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601545    607432   
Orphanet18852    4054    12582    14369   
DisGeNETPAFAH1B1
MedgenPAFAH1B1
Genetic Testing Registry PAFAH1B1
NextProtP43034 [Medical]
TSGene5048
GENETestsPAFAH1B1
Target ValidationPAFAH1B1
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)
DataMed IndexPAFAH1B1
Probes
Litterature
PubMed155 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

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indexed on : Wed Nov 13 17:59:35 CET 2019
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