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Pafah1b1
Gene Detail
 Symbol
Name
ID
Pafah1b1
platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
MGI:109520
Synonyms Lis1, LIS-1, lissencephaly-1 protein, Mdsh, PAF-AH 45, Pafaha
Feature Type protein coding gene
Genetic Map
Chromosome 11
45.76 cM, cytoband B3
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr11:74673949-74724670 bp, - strand
From VEGA annotation of GRCm38

  50722 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:371  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: dynein regulator, Lis1 type
Gene Tree: Pafah1b1

Human
homologs
Human Homolog PAFAH1B1, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
NCBI Gene ID 5048
neXtProt AC  NX_P43034
Human Synonyms  LIS1, LIS2, MDCR, MDS, PAFAH
Human Chr (Location)  17p13.3; chr17:2593629-2685615 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PAFAH1B1
Alleles
and
phenotypes
All alleles(390) : Gene trapped(383) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations at this locus result in neuronal migration defects. Homozygous null mutants die around implantation. Different allelic combinations show variable cortical, hippocampal and olfactory disorganization and impaired spatial learning and coordination.
 
Human Diseases Modeled Using Mouse Pafah1b1 (2)    Alleles Annotated to Human Diseases(4)    Phenotype Images(6)
Gene Ontology
(GO)
classifications
All GO classifications: (97 annotations)
Process acrosome assembly, actin cytoskeleton organization, ...
Component astral microtubule, axon, ...
Function dynein binding, dynein intermediate chain binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (35 records)
Data Summary: Results (463)    Tissues (215)    Images (93)
Theiler Stages: 1, 2, 3, 4, 5, 10, 12, 14, 16, 18, 19, 20, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 4
RNA in situ 384
Western blot 28
RT-PCR 47
cDNA source data(284)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(317) Genomic(28) cDNA(284) Primer pair(4) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000006184 (Evidence)
Ensembl Gene ModelENSMUSG00000020745 (Evidence)
Entrez Gene18472 (Evidence)
UniGene397111
DFCITC1572561, TC1600995, TC1603886, TC1606471, TC1632600, TC1651107
DoTSDT.101187575, DT.110538071, DT.40173322, DT.534770, DT.94157948, DT.97357823
NIA Mouse Gene IndexU033069, U048093
PDB1UUJ, 1VYH
Consensus CDS ProjectCCDS25035.1
International Mouse Knockout Project StatusPafah1b1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006184 VEGA Gene Model | MGI Sequence Detail 50722 C57BL/6J ±  kb
transcript OTTMUST00000013927 VEGA | MGI Sequence Detail 5803 Not Applicable 
polypeptide OTTMUSP00000006469 VEGA | MGI Sequence Detail 410 Not Applicable 

For the selected sequences
All sequences(87) RefSeq(3) UniProt(9)
Polymorphisms RFLP(1) : SNPs within 2kb(332 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017252 Dynein regulator LIS1
InterPro IPR020472 G-protein beta WD-40 repeat
InterPro IPR006594 LisH dimerisation motif
InterPro IPR013720 LisH dimerisation motif, subgroup
InterPro IPR001680 WD40 repeat
InterPro IPR019775 WD40 repeat, conserved site
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000012227 platelet-activating factor acetylhydrolase IB subunit alpha
References (Earliest) J:9865 Ledbetter DH, et al., Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated island in the Miller-Dieker chromosome region. Proc Natl Acad Sci U S A. 1989 Jul;86(13):5136-40
(Latest) J:201674 Xie Y, et al., The phosphatase PP4c controls spindle orientation to maintain proliferative symmetric divisions in the developing neocortex. Neuron. 2013 Jul 24;79(2):254-65
All references(118)
Other
accession IDs
MGD-MRK-16183, MGD-MRK-39519

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory