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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PAFAH1B1 Gene

protein-coding   GIFtS: 68
GCID: GC17P002496

platelet-activating factor acetylhydrolase 1b, regulatory...

(Previous names: platelet-activating factor acetylhydrolase, isoform Ib,...)
(Previous symbols: MDCR, MDS)
 Explore 46 diseases affiliated with
PAFAH1B1 via
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 Human Malady Compendium 
Biological research products
for PAFAH1B1    

Aliases
for PAFAH1B1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Platelet-Activating Factor Acetylhydrolase 1b, Regulatory Subunit 1
(45kDa)1 2
     PAF-AH 45 KDa Subunit2 3
LIS11 2 3 5     PAF-AH Alpha2 3
MDCR1 2 3     PAFAH Alpha2 3
MDS1 2 3     Miller-Dieker Syndrome Chromosome Region1
PAFAH1 2     Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Alpha Subunit 45kDa1
Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Alpha Subunit (45kD)1 2     LIS22
Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Subunit 1 (45kDa)1 2     Lissencephaly 1 Protein2
Lissencephaly-1 Protein2 3     Platelet-Activating Factor Acetylhydrolase IB Subunit Alpha2
LIS-12 3     PAFAHA3
PAF Acetylhydrolase 45 KDa Subunit2 3     

External Ids:    HGNC: 85741   Entrez Gene: 50482   Ensembl: ENSG000000071687   OMIM: 6015455   UniProtKB: P430343   

Export aliases for PAFAH1B1 gene to outside databases

Previous GC identifers: GC17P002810 GC17P002447 GC17P002703 GC17P002443


Summaries
for PAFAH1B1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PAFAH1B1:
This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with
Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib
isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal
of the acetyl group at the SN-2 position of platelet-activating factor (identified as
1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor
acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit
isoform of this enzyme is found in serum. (provided by RefSeq, Apr 2009)

UniProtKB/Swiss-Prot: LIS1_HUMAN, P43034
Function: Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting
cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors.
Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the
acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed
microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the
microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of
Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome.
Required during brain development for the proliferation of neuronal precursors and the migration of newly formed
neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process
called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently
translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by
exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the
migration of fibroblasts during wound healing

Gene Wiki entry for PAFAH1B1


Genomic Views
for PAFAH1B1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PAFAH1B1 gene promoter:
         TBP   c-Fos   AML1a   AP-1   Nkx2-2   NF-kappaB   C/EBPalpha   TFIID   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): PAFAH1B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PAFAH1B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PAFAH1B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13.3

PAFAH1B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAFAH1B1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P002496:  view genomic region     (about GC identifiers)

Start:
 2,496,504 bp from pter      End:
 2,588,909 bp from pter
Size:
 92,406 bases      Orientation:
 plus strand

Proteins
for PAFAH1B1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: LIS1_HUMAN, P43034 (See protein sequence)
Recommended Name: Platelet-activating factor acetylhydrolase IB subunit alpha  
Size: 410 amino acids; 46638 Da
Subunit: Component of cytosolic PAF-AH IB, which is composed of PAFAH1B1 (alpha), PAFAH1B2 (beta) and PAFAH1B3 (gamma)
subunits. Trimer formation is not essential for the catalytic activity of the enzyme which is contributed solely by
the PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Interacts with IQGAP1, KATNB1 and NUDC. Interacts with DAB1 when
DAB1 is phosphorylated in response to RELN/reelin signaling (By similarity). Can self-associate. Interacts with DCX,
dynein, dynactin, NDE1, NDEL1 and RSN. Interacts with DISC1, and this interaction is enhanced by NDEL1
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle
(By similarity). Nucleus membrane (Potential). Note=Redistributes to axons during neuronal development. Also localizes
to the microtubules of the manchette in elongating spermatids and to the meiotic spindle in spermatocytes (By
similarity). Localizes to the plus end of microtubules and to the centrosome. May localize to the nuclear membrane
Sequence caution: Sequence=AAA02882.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
Secondary accessions: B2R7Q7 Q8WZ88 Q8WZ89
Alternative splicing: 2 isoforms:  P43034-1   P43034-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PAFAH1B1: NX_P43034

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P43034

    • PAFAH1B1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000421.1  
    ENSEMBL proteins: 
     ENSP00000461087   ENSP00000459949   ENSP00000380378   ENSP00000460433   ENSP00000460258  
     ENSP00000460591   ENSP00000395628  
    Reactome Protein details: P43034
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PAFAH1B1
    OriGene Protein Over-expression Lysate: PAFAH1B1
    OriGene Custom Protein Services for PAFAH1B1 
    GenScript Custom Purified and Recombinant Proteins Services for PAFAH1B1
    Novus Biologicals PAFAH1B1 Proteins
    Novus Biologicals PAFAH1B1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PAFAH1B1

    Gene Ontology (GO): 5/26 cellular component terms (GO ID links to tree view) (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000235astral microtubule IDA11940666
    GO:0000776kinetochore IDA11940666
    GO:0005625soluble fraction ----
    GO:0005626insoluble fraction ----
    GO:0005634nucleus IDA--


    PAFAH1B1 for ontologies           About GeneDecksing



    PAFAH1B1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of PAFAH1B1
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    ThermoFisher Antibodies for PAFAH1B1

    Assay Products for PAFAH1B1: 
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    GenScript Custom Assay Services for PAFAH1B1
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    Uscn ELISAs and CLIAs for PAFAH1B1

    Protein Domains /
    Families
    for PAFAH1B1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PAFAH1B1 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR017252 Dynein_regulator
     IPR019775 WD40_repeat_CS
     IPR006594 LisH_dimerisation
     IPR013720 LisH_dimerisation_subgr
     IPR001680 WD40_repeat

    Graphical View of Domain Structure for InterPro Entry P43034

    ProtoNet protein and cluster: P43034

    2 Blocks protein families:
    IPB001680 G-protein beta WD-40 repeat signature
    IPB006594 Lissencephaly type-1-like homology motif


    UniProtKB/Swiss-Prot: LIS1_HUMAN, P43034
    Domain: Dimerization mediated by the LisH domain may be required to activate dynein (By similarity)
    Similarity: Belongs to the WD repeat LIS1/nudF family
    Similarity: Contains 1 LisH domain
    Similarity: Contains 7 WD repeats


    Function
    for PAFAH1B1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: LIS1_HUMAN, P43034
    Function: Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting
    cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors.
    Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the
    acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed
    microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the
    microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of
    Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome.
    Required during brain development for the proliferation of neuronal precursors and the migration of newly formed
    neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process
    called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently
    translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by
    exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the
    migration of fibroblasts during wound healing

         Genatlas biochemistry entry for PAFAH1B1:
    platelet activating factor acetylhydrolase,microtubule associated protein,plasma isoform 1b,non catalytic alpha subunit
    ,component of overlapping but distinct signal pathways including DCX that promotes neuronal migration,expressed in
    fetal brain,regulated by phosphorylation,required for ordered neuronal migration in the cortex,deleted or mutated in
    isolated lissencephaly,also deleted in Miller-Dieker syndrome

    miRNA
    Products:            		 OriGene 3'-UTR Clone: PAFAH1B1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PAFAH1B1
    8/99 QIAGEN miScript miRNA Assays for microRNAs that regulate PAFAH1B1 (see all 99):
    hsa-miR-411* hsa-miR-3607-3p hsa-miR-3194-5p hsa-miR-300 hsa-miR-106a hsa-miR-15a hsa-miR-4305 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmid: PAFAH1B1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAFAH1B1 (see all 7)
    OriGene shRNA RFP: PAFAH1B1
    OriGene siRNA: PAFAH1B1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAFAH1B1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PAFAH1B1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PAFAH1B1 (see all 4)
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    GenScript: all cDNA clones in your preferred vector: PAFAH1B1 (NM_000430)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAFAH1B1 

    Cell Line
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    Search LifeMap BioReagents cell lines for PAFAH1B1

    In Situ Assay
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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008017microtubule binding ISS10729324
    GO:0008201heparin binding ISS8028668
    GO:0016787hydrolase activity ----
    GO:0032403protein complex binding IEA--


    PAFAH1B1 for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for PAFAH1B1:
     Cell cycle / mitosis defect  Decreased number of cells in m  Increased G2M DNA content  Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-outs for PAFAH1B1: Pafah1b1tm1Awb Pafah1b1tm2.2Awb Pafah1b1tm1Or
         7 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Pafah1b1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  mortality/aging 
     nervous system  reproductive system 

    PAFAH1B1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PAFAH1B1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Recruitment of mitotic centrosome proteins and complexes
    		Centrosome maturation1.00
    		Mitotic G2-G2/M phases0.81
    		Recruitment of mitotic centrosome proteins and complexes1.00
    		Loss of proteins required for interphase microtubule organization from the centrosome0.78
    		G2/M Transition0.83
    		Loss of Nlp from mitotic centrosomes0.78
    2M Phase
    		M Phase1.00
    		Mitotic Anaphase0.85
    		Mitotic M-M/G1 phases0.88
    		Separation of Sister Chromatids0.80
    		Mitotic Metaphase and Anaphase0.85
    3Resolution of Sister Chromatid Cohesion
    		Resolution of Sister Chromatid Cohesion1.00
    		Mitotic Prometaphase0.93
    		Kinetochore assembly0.96
    4Cell Cycle
    		Cell Cycle1.00
    		Cell Cycle, Mitotic0.84
    5Wnt Signaling Pathway
    		Wnt Signaling Pathway1.00
    		Wnt Signaling Pathway and Pluripotency0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PAFAH1B1
        Cytoplasmic microtubules


    2 Cell Signaling Technology (CST) Pathways for PAFAH1B1
        Neuroscience
    Cytoskeletal Signaling

    4 BioSystems Pathways for PAFAH1B1 
        Wnt Signaling Pathway and Pluripotency
    Wnt Signaling Pathway
    Lissencephaly gene (LIS1) in neuronal migration and development
    Reelin signaling pathway

    5/16        Reactome Pathways for PAFAH1B1 (see all 16)
        Mitotic Prometaphase
    Resolution of Sister Chromatid Cohesion
    Cell Cycle
    M Phase
    Recruitment of mitotic centrosome proteins and complexes


    2         Kegg Pathways  (Kegg details for PAFAH1B1):
        Ether lipid metabolism
    Metabolic pathways


    PAFAH1B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PAFAH1B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/267 Interacting proteins for PAFAH1B1 (P430341, 2, 3 ENSP000003803784) via UniProtKB, MINT, STRING, and/or I2D (see all 267)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KARSQ150462, 3, ENSP000003254484MINT-65542 I2D: score=5 STRING: ENSP00000325448
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583, ENSP000002722984I2D: score=1 STRING: ENSP00000272298
    CALM3P621583, ENSP000002912954I2D: score=1 STRING: ENSP00000291295
    DCTN1Q142033, ENSP000003547914I2D: score=4 STRING: ENSP00000354791
    About this table

    Gene Ontology (GO): 5/46 biological process terms (GO ID links to tree view) (see all 46):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000087M phase of mitotic cell cycle TAS--
    GO:0000132establishment of mitotic spindle orientation IMP11056532
    GO:0000226microtubule cytoskeleton organization ISS10729324
    GO:0000236mitotic prometaphase TAS--


    PAFAH1B1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PAFAH1B1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PAFAH1B1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PAFAH1B1

    5 HMDB Compounds for PAFAH1B1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetic acidAcetate (see all 12)64-19-7--
    CalciumCa (see all 2)7440-70-2--
    LysoPC(O-18:0)1-Octadecyl-sn-glycero-3-phosphocholine;LysoPC(o-18:0)LysoPC(dm18:0);LysoPC(18:0e/0:0);LysoPC(o-18:0/0:0) (see all 2)----
    PC(18:1(9Z)e/2:0)(2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate;2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine;PC(o-18:1(9Z)/2:0) ----
    WaterDihydrogen oxide (see all 2)7732-18-5--
    10/16 Novoseek chemical compound relationships for PAFAH1B1 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    medroxyprogesterone 48.7 3 8460940 (2), 8233731 (1)
    phospholipid 14.8 4 10051281 (1), 15265050 (1), 12934648 (1), 1414232 (1)
    txb2 3.97 5 7938902 (4)
    leukotriene b4 3.96 5 7938902 (4)
    calcium 2.85 1 12934648 (1)
    endotoxin 0 1 8460940 (1)
    polyacrylamide 0 3 16761416 (1), 12821559 (1)
    arachidonic acid 0 2 7938902 (1)
    lipid 0 4 10722879 (1), 11168434 (1), 15942364 (1), 9349753 (1)
    steroid 0 2 8460940 (1), 8040619 (1)

    Search CenterWatch for drugs/clinical trials and news about PAFAH1B1 / LIS1 

    Transcripts
    for PAFAH1B1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PAFAH1B1 gene: 
    NM_000430.3  

    Unigene Cluster for PAFAH1B1:

    Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
    Hs.77318  [show with all ESTs]
    Unigene Representative Sequence: NM_000430
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000576586 ENST00000573839 ENST00000397195(uc010ckb.2 uc002fuw.4 uc010vqz.2)
    ENST00000575477 ENST00000572915 ENST00000570400 ENST00000571289 ENST00000574816
    ENST00000397193 ENST00000574468 ENST00000571495 ENST00000574213 ENST00000451360


    miRNA
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    8/99 QIAGEN miScript miRNA Assays for microRNAs that regulate PAFAH1B1 (see all 99):
    hsa-miR-411* hsa-miR-3607-3p hsa-miR-3194-5p hsa-miR-300 hsa-miR-106a hsa-miR-15a hsa-miR-4305 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmid: PAFAH1B1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PAFAH1B1 (see all 7)
    OriGene shRNA RFP: PAFAH1B1
    OriGene siRNA: PAFAH1B1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PAFAH1B1
    Clone
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    Additional cDNA sequence: 

    AF208835.1 AF208836.1 AF208837.1 AF208838.1 AF400434.1 AK293918.1 AK303015.1 AK308937.1 
    AK313078.1 BC064638.1 BX538346.1 L13385.1 L13386.1 L13387.1 L13388.1 L25107.1 
    S81396.1 

    24/28 DOTS entries (see all 28):

    DT.95198247  DT.448229  DT.100844382  DT.95265405  DT.95265403  DT.100844368  DT.120975397  DT.95232261 
    DT.99951065  DT.100832160  DT.100844370  DT.100893741  DT.120975390  DT.120975423  DT.120975457  DT.95265406 
    DT.100719152  DT.120975398  DT.120975429  DT.120975524  DT.75100670  DT.99949047  DT.100704991  DT.100844371 

    24/1840 AceView cDNA sequences (see all 1840):

    AA548480 AA367853 BM979353 CF134772 BG289065 BU507097 BP362707 BM670429 
    CN480157 BI712577 BF110482 BU188218 BM995672 CR623549 AA448620 CR600610 
    AW794783 BE886679 BQ776158 BQ061627 BF794801 CR610584 CB131127 BP342482 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH1B1 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                    -           -                                   -                       -                                       
    SP2:                    -           -     -     -           -           -                 -     -     -     -     -     -               
    SP3:                                                                    -                                                               
    SP4:        -     -     -           -                                                                                                   
    SP5:                                -     -                                                                                             


    ECgene alternative splicing isoforms for PAFAH1B1

    Expression
    for PAFAH1B1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PAFAH1B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTCTGCAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PAFAH1B1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    EyeRetinaEye
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PAFAH1B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PAFAH1B1

    SOURCE GeneReport for Unigene cluster: Hs.77318

    UniProtKB/Swiss-Prot: LIS1_HUMAN, P43034
    Tissue specificity: Fairly ubiquitous expression in both the frontal and occipital areas of the brain

        SABiosciences Expression via Pathway-Focused PCR Array including PAFAH1B1: 
              Neurogenesis in human mouse rat

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    Orthologs
    for PAFAH1B1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PAFAH1B1 gene from 7/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PAFAH1B11 platelet-activating factor acetylhydrolase 1b, regulatory more 89.35(n)
    99.02(a)    		   374224  NM_204324.1  NP_989655.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PAFAH1B16
    		 --
    		 99(a)
    		 1 ↔ 1
    		 GL343731.1(29312-44889)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.53472 Xenopus laevis LIS1 mRNA, complete cds 84.68(n)    AY032881.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii pafah1b1a2 platelet-activating factor acetylhydrolase, isoform more 82.39(n)   394246  BC053205.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Lis13
    Lis-11    		 microtubule-based movement
    2-acetyl-1-alkylglycerophosphocholine
    more3
    Lissencephaly-11    		 70(a)3
    65.52(n)1
    70.59(a)1    		   52F53
    367911  NM_206130.21  NP_995852.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea lis-11 , 3 WD domain, G-beta repeats (4 domains)3
    Protein LIS-11    		 57(a)3
    59.47(n)1
    58.56(a)1    		   III(13442945-13447923)3
    1767581  NM_067354.41  NP_499755.11 
    corn
    (Zea mays)    		 Liliopsida Zm.14342 Zea mays transcribed sequence 92.92(n)    BE049906.1 


    ENSEMBL Gene Tree for PAFAH1B1 (if available)
    TreeFam Gene Tree for PAFAH1B1 (if available) 

    Paralogs
    for PAFAH1B1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PAFAH1B1 gene
    POC1B2  WDR832  WDR52  ATG16L12  WDR882  SNRNP402  WDR5B2  KATNB12  
    PRPF42  DAW12  WDR382  ATG16L22  POC1A2  WDSUB12  
    16 SIMAP similar genes for PAFAH1B1 using alignment to 7 protein entries:     LIS1_HUMAN (see all proteins):
    PF20    WSB1    GNB5    POC1B    FBXW7    PLRG1
    PAAF1    WDR5    WDR5B    WDR83    GNB2L1    WDR38
    POC1A    WDR48    WDR51A    WDR69

    PAFAH1B1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for PAFAH1B1
    PGOHUM00000240135 PGOHUM00000262449 PGOHUM00000262466


    Genomic Variants
    for PAFAH1B1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1580 NCBI SNPs in PAFAH1B1 are shown (see all 1580)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs66281,2
    		C,F,A,H,non-pathogenic2585113(+) TCGGCC/TCCTCC 1 -- ut31 ese3 trp38Minor allele frequency- T:0.21MN NA WA EA EU 1829
    rs1813836551,2
    		--2494953(+) TCATCC/TTCCCC 1 -- us2k10--------
    rs1379312491,2
    		--2494957(+) CCTCCC/TCAGTA 1 -- us2k10--------
    rs1862103371,2
    		--2495125(+) AAATTC/GCTGGG 1 -- us2k10--------
    rs728133701,2
    		C,F,--2495140(+) CAGGGG/ATTAGC 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1421527521,2
    		--2495194(+) TTGTTA/TTGGTA 1 -- us2k10--------
    rs1447607251,2
    		--2495255(+) AAGATA/GCTTTA 1 -- us2k10--------
    rs1919613321,2
    		--2495384(+) AAGTGC/TGGGGT 1 -- us2k10--------
    rs1164461031,2
    		F,--2495479(+) GTGACG/ACAATA 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs781138901,2
    		F,--2495513(+) CCTGTT/CTCAAG 1 -- us2k11Minor allele frequency- C:0.02NA 120

    HapMap Linkage Disequilibrium report for PAFAH1B1 (2496504 - 2588909 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PAFAH1B1
         1 CNV: 49836
    Human Gene Mutation Database (HGMD): PAFAH1B1

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    Intellectual Disability
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    Disorders / Diseases
    for PAFAH1B1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PAFAH1B1 for disorders           About GeneDecksing

    OMIM gene information: 601545   
    OMIM disorders: 607432  
    UniProtKB/Swiss-Prot: LIS1_HUMAN, P43034
  • Defects in PAFAH1B1 are the cause of lissencephaly type 1 (LIS1) [MIM:607432]; also known as classic
    • lissencephaly. LIS1 is characterized by agyria or pachgyria and disorganization of the clear neuronal lamination of
    normal six-layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. LIS1 is
    associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum
  • Defects in PAFAH1B1 are the cause of subcortical band heterotopia (SBH) [MIM:607432]. SBH is a mild brain
    • malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric ribbons of gray matter
    found in the central white matter between the cortex and the ventricular surface
  • Defects in PAFAH1B1 are a cause of Miller-Dieker lissencephaly syndrome (MDLS) [MIM:247200]. MDLS is a
    • contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial
    features. Additional congenital malformations can be part of the condition

    20/46 diseases for PAFAH1B1 (see all 46):    About MalaCards
    miller-dieker lissencephaly    lissencephaly    miller-dieker syndrome    platelet-activating factor acetylhydrolase deficiency
    lissencephaly 1    periventricular nodular heterotopia    lissencephaly x-linked    subcortical laminar heterotopia
    subcortical band heterotopia    open-angle glaucoma    migraine without aura    heterotopia
    cerebellar hypoplasia    developmental disabilities    corpus callosum    neuronal migration disorders
    pachygyria    intellectual disability    brain malformations    bronchial asthma

    5 diseases from the University of Copenhagen DISEASES database for PAFAH1B1:
    Lissencephaly     Periventricular nodular heterotopia     Intellectual disability     Microcephaly
    Focal epilepsy

    10/22 Novoseek disease relationships for PAFAH1B1 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lissencephaly sequence, isolated 97.1 30 17664403 (2), 10541472 (2), 16814084 (2), 11115846 (1) (see all 18)
    agyria 92.8 2 19667223 (1), 11502906 (1)
    lissencephaly, x-linked 90.3 2 17571022 (1), 10826984 (1)
    periventricular nodular heterotopia 88.8 1 16538086 (1)
    miller-dieker lissencephaly syndrome 87.3 2 17850624 (1)
    cerebellar hypoplasia 84.7 3 17664403 (2), 16538086 (1)
    infantile spasms 64.3 3 11579436 (1), 15921228 (1), 16724181 (1)
    developmental delay 52.3 5 11579436 (1), 15921228 (1), 16724181 (1), 19136950 (1) (see all 5)
    epilepsy 51.6 10 19797046 (1), 20227246 (1)
    developmental disabilities 51.1 2 10541472 (1), 19864038 (1)

    GeneTests: PAFAH1B1
    LIS1-Associated Lissencephaly/Subcortical Band Heterotopia

    Genetic Association Database (GAD): PAFAH1B1
    Human Genome Epidemiology (HuGE) Navigator: PAFAH1B1 (25 documents)

    Export disorders for PAFAH1B1 gene to outside databases

    Publications
    for PAFAH1B1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PAFAH1B1 gene, integrated from 9 sources (see all 282):
    (articles sorted by number of sources associating them with PAFAH1B1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (PubMed id 9063735)1, 2, 3, 9 Lo Nigro C....Ledbetter D.H. (1997)
    2. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. (PubMed id 8355785)1, 2, 3 Reiner O.... Ledbetter D.H. (1993)
    3. Interaction between LIS1 and doublecortin, two lissencephaly gene products. (PubMed id 11001923)1, 2, 9 Caspi M.... Reiner O. (2000)
    4. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. (PubMed id 14581661)1, 2, 9 Sicca F....Guerrini R. (2003)
    5. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. (PubMed id 11502906)1, 2, 9 Leventer R.J.... Dobyns W.B. (2001)
    6. LIS1, CLIP-170's key to the dynein/dynactin pathway. (PubMed id 11940666)1, 2, 9 Coquelle F.M.... Reiner O. (2002)
    7. Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis. (PubMed id 15081260)1, 4, 9 Osoegawa M....Kira J. (2004)
    8. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. (PubMed id 10441340)1, 2, 9 Pilz D.T.... Ledbetter D.H. (1999)
    9. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. (PubMed id 15173193)1, 2, 9 Tanaka T....Gleeson J.G. (2004)
    10. Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders. (PubMed id 14962739)1, 2, 9 Brandon N.J....Whiting P.J. (2004)

    External Searches for PAFAH1B1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PAFAH1B1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5048 HGNC: 8574 AceView: YWHAE Ensembl:ENSG00000007168 euGenes: HUgn5048
    ECgene: PAFAH1B1 Kegg: 5048 H-InvDB: PAFAH1B1

    Other Databases showing PAFAH1B1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PAFAH1B1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PAFAH1B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAFAH1B1

    Intellectual Property
    for PAFAH1B1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PAFAH1B1 gene:
    Search GeneIP for patents involving PAFAH1B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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     SwitchGear Promoter luciferase reporter plasmids for PAFAH1B1
     ThermoFisher Antibodies for PAFAH1B1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAFAH1B1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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