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PAFAH1B1 Gene

protein-coding   GIFtS: 72

GC17P002443
platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
(Previous names: platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD), Miller-Dieker syndrome chromosome region, platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: MDCR, MDS)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
LIS-1 3
LIS1 1, 2, 3, 5
LIS2 2
MDCR 2, 3
MDS 2, 3
PAFAH 1, 2
PAFAHA 3
Descriptions
Lissencephaly-1 protein 3
Miller-Dieker syndrome chromosome region 1
PAF acetylhydrolase 45 kDa subunit 3
PAF-AH 45 kDa subunit 3
PAF-AH alpha 3
PAFAH alpha 3
lissencephaly 1 protein 2
platelet-activating factor acetylhydrolase, isoform Ib,
alpha subunit 2
platelet-activating factor acetylhydrolase, isoform Ib,
alpha subunit (45kD) 1
platelet-activating factor acetylhydrolase, isoform Ib,
alpha subunit 45kDa 1, 2
platelet-activating factor acetylhydrolase, isoform Ib,
subunit 1 (45kDa) 2
External Ids
HGNC: 85741
Entrez Gene: 50482
UniProtKB: P430343
Ensembl: ENSG000000071687
Search outside databases for aliases for PAFAH1B1 gene

Previous GC identifers: GC17P002810 GC17P002447 GC17P002703

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene 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]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PAFAH1B1 gene  

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)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P002443:     (about GC identifiers)

Start:
2,443,686 bp from pter
End:
2,535,638 bp from pter
Size:
91,953 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000017.9  NT_010718.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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. Spindle (By similarity). Nucleus membrane
(Potential). Centrosome. 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: Q8WZ88 Q8WZ89
Alternative splicing: 2 isoforms:  P43034-1   P43034-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000421.1  

    ENSEMBL proteins: 
    ENSP00000380377 ENSP00000380378 ENSP00000006951 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (LIS1)
    Human Recombinant Proteins from Abnova (PAFAH1B1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/16 Gene Ontology (GO) cellular component terms (links to tree view) (see all 16 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000235 astral microtubule IDA11940666
    GO:0000776 kinetochore IDA11056532 11889140 11940666
    GO:0005634 nucleus IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005813 centrosome IEA--
    About this table

    Antibodies for PAFAH1B1: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of PAFAH1B1
    Sigma-Aldrich Antibody Arrays and Antibodies for PAFAH1B1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (LIS1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PAFAH1B1)
    Novus Biologicals Antibodies for PAFAH1B1

    Assays for PAFAH1B1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/9 InterPro domains/families (see all 9 ):
     IPR013720 LisH_dimerisation_sub
     IPR019782 WD40_repeat_2
     IPR017252 Dynein_regulator
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat


       GeneDecks  PAFAH1B1 for the domains selected above  
    About GeneDecksing

    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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PAFAH1B1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PAFAH1B1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000430

                  Applied Biosystems Silencer® siRNAs for PAFAH1B1

                  Sigma-Aldrich siRNA and siRNA Panels for PAFAH1B1  
                         Sigma-Aldrich shRNA Panels and shRNA for PAFAH1B1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for PAFAH1B1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000430
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000430
                                     untagged cDNA clone in CMV expression vector: NM_000430 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000430

    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

    7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Pafah1b1):

    behavior/neurologicalendocrine/exocrine glandgrowth/sizelethality-postnatallethality-prenatal/perinatal
    nervous systemreproductive system

    5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008017 microtubule binding IEA--
    GO:0008201 heparin binding ISS8028668
    GO:0034452 dynactin binding ISS11056532
    GO:0042803 protein homodimerization activity IEA--
    GO:0043274 phospholipase binding ISS8028668
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for PAFAH1B1
     Cytoplasmic microtubules

       GeneDecks  PAFAH1B1 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  PAFAH1B1  (Your Favorite Gene powered by Ingenuity) 
     Reelin Signaling in Neurons

       GeneDecks  PAFAH1B1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for PAFAH1B1):
     hsa00565 Ether lipid metabolism

       GeneDecks  PAFAH1B1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  PAFAH1B1 


    5/209 Interacting proteins for PAFAH1B1 (ENSP000000069513 P430342) via UniProtKB, MINT, and/or STRING (see all 209 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DCTN1ENSP000003547913STRING (score=.999)
    DCXENSP000003507763STRING (score=.999)
    NDE1ENSP000003458923STRING (score=.999)
    NDEL1ENSP000002997343STRING (score=.999)
    NUDCENSP000003196643STRING (score=.999)
    About this table

    5/27 Gene Ontology (GO) biological process terms (links to tree view) (see all 27 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000132 establishment of mitotic spindle orientation IMP11056532
    GO:0000226 microtubule cytoskeleton organization IEA--
    GO:0001675 acrosome assembly IEA--
    GO:0001764 neuron migration IEA--
    GO:0006810 transport IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for PAFAH1B1
    10 Novoseek chemical compound relationships for PAFAH1B1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    phospholipid 16.93 4 10051281 (1), 15265050 (1), 12934648 (1), 1414232 (1)
    leukotriene b4 5.78 5 7938902 (4)
    txb2 5.63 5 7938902 (4)
    calcium 3.04 1 12934648 (1)
    dithiothreitol 0.52 2 15194469 (1)
    endotoxin 0.00 1 8460940 (1)
    polyacrylamide 0.00 3 16761416 (1), 12821559 (1)
    lipid 0.00 4 10722879 (1), 11168434 (1), 15942364 (1), 9349753 (1)
    steroid 0.00 2 8460940 (1), 8040619 (1)
    arachidonic acid 0.00 2 7938902 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (PAFAH1B1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PAFAH1B1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000430

                  Sigma-Aldrich siRNA and siRNA Panels for PAFAH1B1  
                         Sigma-Aldrich shRNA Panels and shRNA for PAFAH1B1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000430  

    REFSEQ mRNAs for PAFAH1B1 gene: 

    NM_000430.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000430  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000430
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000430
                                     untagged cDNA clone in CMV expression vector: NM_000430 

    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 CR594061.1 CR599910.1 CR608859.1 CR622803.1 CR624292.1 
    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.75100670 
    DT.95265406  DT.100719152  DT.102836560  DT.120975398  DT.120975429  DT.120975524  DT.99949047  DT.100704991 

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

    AI270436 BM760170 BG677248 CR619511 AA976438 AA367853 AA189010 CK824060 
    AA724377 M78473 BM449638 BU153036 W49810 BE784239 BQ773238 BU155913 
    AK128785 BM806418 CA412610 BM762925 BQ439862 CR617332 AA737919 BM721057 

    highest scoring ESTs for PAFAH1B1:

    L25107 L13385 AA013270 AA056313 AA059318 AA059337 AA216709 AA218588 AA253159 AA309766 

    Unigene Cluster for PAFAH1B1:

    Platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
    Hs.77318  [show with all ESTs]
    Unigene Representative Sequence: NM_000430


    GeneLoc Exon Structure

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

    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:                                -     -                                                                                             

    About this scheme

    ECgene alternative splicing isoforms for PAFAH1B1

    3 Ensembl transcripts including schematic representations:
    ENST00000397193  ENST00000397195  ENST00000006951  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    PAFAH1B1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PAFAH1B1

    1 / 2 / 3

    10 probe-sets matching PAFAH1B1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    37317_at2, 3 U95-A 1 1.00 1.00 0.48 0.62 L25107 1.00 0.90 0.95 1

    32569_at2, 3 U95-A 1 1.00 1.00 0.70 1.39 L13385 1.00 0.87 0.94 1

    200816_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000430 0.60 1.00 0.82 1

    200813_s_at2, 3 U133-A 1 1.00 1.00 -- -- BE256969 0.80 1.00 0.91 1

    211547_s_at2, 3 U133-A 1 1.00 1.00 -- -- L13387 0.80 0.88 0.84 1

    200815_s_at2, 3 U133-A 2 1.00 0.82 -- -- L13386 0.80 0.83 0.82 1

    200816_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    200813_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    211547_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    200815_s_at2 U133Plus2 2 1.00 0.82 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTTTCTGCAT

    SOURCE GeneReport for Unigene cluster: Hs.77318

    Expression variation in blood from EXPOLDB for PAFAH1B1

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for PAFAH1B1 gene from 5/17 species (see all 17 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    PAFAH1B11   -- platelet-activating factor acetylhydrolase, isoform more 97.07(n)
    99.76(a)
    480656  XM_863426.1  XP_868519.1 
    chimpanzee
    (Pan troglodytes)
    PAFAH1B11   -- platelet-activating factor acetylhydrolase, isoform more 99.59(n)
    99.51(a)
    454422  NM_001034091.1  NP_001029263.1 
    cow
    (Bos taurus)
    PAFAH1B11   -- platelet-activating factor acetylhydrolase, isoform more 96.59(n)
    99.27(a)
    282513  NM_174663.2  NP_777088.1 
    rat
    (Rattus norvegicus)
    Pafah1b11   -- platelet-activating factor acetylhydrolase, isoform more 95.28(n)
    99.76(a)
    83572  NM_031763.3  NP_113951.1 
    mouse
    (Mus musculus)
    Pafah1b11, 5 11 (44.00 cM)5
    platelet-activating factor acetylhydrolase, isoform more1, 5 95.12(n)1
    99.76(a)1
    184721  NM_013625.21  NP_038653.11 
     AI4644105  AK1449085  (see all 44)
    About this table        Species with no ortholog for PAFAH1B1

    ENSEMBL Gene Tree for PAFAH1B1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for PAFAH1B1 gene
    WDR692  

    Pseudogenes
    2 related pseudogenes


    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/480 NCBI SNPs in PAFAH1B1 are shown (see all 480 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 98)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs72167041,2
    A,C,F,H2535772(+) CGAATT/CGGTGT 1 -- ng313Minor allele frequency- C:0.18EU EA 298
    rs47903561,2
    A,C,F,H2532979(+) AGTGGG/ATAAGT 1 -- ut318Minor allele frequency- A:0.14EU EA WA NA 772
    rs66281,2
    A,C,F2531863(+) TCGGCC/TCCTCC 1 -- ut31 ese3 trp31Minor allele frequency- T:0.10MN 184
    --
    rs169523241,2
    C,F2533760(+) GCCTCA/TCAACC 1 -- ut31 ese36Minor allele frequency- T:0.16NA MN EA 1444
    --
    rs43624271,2
    A,C2442470(+) gggatC/Ggagac 1 -- ng510--------
    rs124528061,2
    H2535296(+) AAGTAG/ACTGCT 1 -- ut314Minor allele frequency- A:0.00EU EA WA 418
    rs10500601,2
    H2532264(+) CTTTTT/CCTGAA 1 -- ut315Minor allele frequency- C:0.02MN EU EA WA 562
    --
    rs22286141,2
    F2524125(+) TTCACA/TGGACA 1 T/T syn14Minor allele frequency- T:0.01MN NA 204
    rs23172971,2
    A,C,F,H,O2523841(+) AAATAT/CTTTTA 1 -- int115Minor allele frequency- C:0.19EU EA WA NA 1396
    rs12664751,2
    A,C,F,H,O2482070(+) TCTCTC/TATTCA 1 -- int115Minor allele frequency- N:0.00MN EU EA WA NA 1418
    About this table

    HapMap Linkage Disequilibrium images for PAFAH1B1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 601545

    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
  • 10/21 Novoseek disease relationships for PAFAH1B1 gene (see all 21 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lissencephaly sequence, isolated 97.12 30 17664403 (2), 10541472 (2), 16814084 (2), 11115846 (1) (see all 18)
    agyria 92.19 1 11502906 (1)
    lissencephaly, x-linked 90.96 2 17571022 (1), 10826984 (1)
    periventricular nodular heterotopia 89.00 1 16538086 (1)
    miller-dieker lissencephaly syndrome 88.94 2 17850624 (1)
    cerebellar hypoplasia 84.85 3 17664403 (2), 16538086 (1)
    infantile spasms 65.76 3 11579436 (1), 15921228 (1), 16724181 (1)
    developmental disabilities 50.54 1 10541472 (1)
    developmental delay 49.43 4 11579436 (1), 15921228 (1), 16724181 (1), 19136950 (1)
    trisomy 27.67 2 12390976 (1), 10406660 (1)
    About this table

    GeneTests: PAFAH1B1
    LIS1-Associated Lissencephaly/Subcortical Band Heterotopia

    Human Gene Mutation Database: PAFAH1B1
    Genetic Association Database: PAFAH1B1
    Human Genome Epidemiology Navigator: PAFAH1B1 (12 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/223 PubMed articles for PAFAH1B1 gene (see all 223 ):
    (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)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 5048 HGNC: 8574 AceView: YWHAE Ensembl:ENSG00000007168 euGenes: HUgn5048
    ECgene: PAFAH1B1 H-InvDB: PAFAH1B1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=PAFAH1B1
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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