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Pafah1b1 Gene Detail
Summary
  • Symbol
    Pafah1b1
  • Name
    platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
  • Synonyms
    Lis1, LIS-1, lissencephaly-1 protein, Mdsh, PAF-AH 45, Pafaha
  • Feature Type
    protein coding gene
  • IDs
    MGI:109520
    NCBI Gene: 18472
  • Gene Overview
    MyGene.info: PAFAH1B1
Location & Maps
more
  • Sequence Map
    Chr11:74673949-74724670 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50722 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.76 cM, cytoband B3
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    PAFAH1B1, platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PAFAH1B1, platelet activating factor acetylhydrolase 1b regulatory subunit 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    LIS1, LIS2, MDCR, MDS, NudF, PAFAH
  • Links
    NCBI Gene ID: 5048
    neXtProt AC: NX_P43034

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

Human Diseases
more
  • Diseases
    2 with Pafah1b1 mouse models; 1 with human PAFAH1B1 associations

Human Disease Mouse Models
       Lissencephaly 1; LIS1   OMIM: 607432 View 5 models
       Miller-Dieker Lissencephaly Syndrome; MDLS   OMIM: 247200 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 5 alleles in 6 genetic backgrounds
    24 phenotypes from multigenic genotypes
    6 images
    59 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    392
  • Chemically induced (other)
    1
  • Gene trapped
    383
  • Targeted
    8
  • Genomic Mutations
    2 involving Pafah1b1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006184 VEGA Gene Model | MGI Sequence Detail 50722 C57BL/6J ±  kb
transcript OTTMUST00000013929 VEGA | MGI Sequence Detail 5789 Not Applicable  
polypeptide OTTMUSP00000006470 VEGA | MGI Sequence Detail 410 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    318 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 324
    Genomic 28
    cDNA 287
    Primer pair 8
    Other 1

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-16183, MGD-MRK-39519
References
more
  • Summaries
    All 123
    Developmental Gene Expression 37
    Diseases 4
    Gene Ontology 36
    Phenotypes 59
  • 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:225521 Garcia-Lopez R, et al., Developmental alterations of the septohippocampal cholinergic projection in a lissencephalic mouse model. Exp Neurol. 2015 Sep;271:215-27

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
09/27/2016
MGI 6.05
The Jackson Laboratory