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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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PAFAH1B1
Protein SuperFamily: dynein regulator, Lis1 type
Gene Tree: Pafah1b1

Human
homologs
PAFAH1B1, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5048
neXtProt AC: NX_P43034

Human Synonyms: LIS1, LIS2, MDCR, MDS, PAFAH

Human Chr (Location): 17p13.3; chr17:2593629-2685617 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PAFAH1B1

Mutations,
alleles, and
phenotypes
All mutations/alleles(391) : Gene trapped(383) Targeted(8)
Genomic Mutations involving Pafah1b1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Pafah1b1 (2)    Mutations Annotated to Human Diseases (4)    Phenotype Images(6)
Interactions
Pafah1b1 interacts with 451 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
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: (36 records)
Data Summary: Results (465)    Tissues (213)    Images (93)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 4
RNA in situ 393
Western blot 24
RT-PCR 44
cDNA source data(285)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase pafah1b1 ; ZFIN pafah1b1a, pafah1b1b    NEW 
Molecular
reagents
All nucleic(318) Genomic(28) cDNA(285) Primer pair(4) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000006184 (Evidence)
Ensembl Gene Model ENSMUSG00000020745 (Evidence)
Entrez Gene 18472 (Evidence)
UniGene 397111
DFCI TC1572561, TC1651107, TC1632600, TC1600995, TC1603886, TC1606471
DoTS DT.97357823, DT.534770, DT.94157948, DT.40173322, DT.101187575, DT.110538071
NIA Mouse Gene Index U048093, U033069
PDB 1UUJ, 1VYH
Consensus CDS Project CCDS25035.1
International Mouse Phenotyping Consortium Status Pafah1b1
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 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:219862 Okamoto M, et al., DBZ regulates cortical cell positioning and neurite development by sustaining the anterograde transport of Lis1 and DISC1 through control of Ndel1 dual-phosphorylation. J Neurosci. 2015 Feb 18;35(7):2942-58
All references(122)
Disease annotation references (3)
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
05/20/2015
MGI 5.22
The Jackson Laboratory