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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
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:74673949-74724384 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.76 cM, cytoband B3
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    317 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109520
protein coding gene Chr11:74673949-74724670 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018697
protein coding gene Chr11:75374799-75430745 (-)
A/J MGP_AJ_G0018663
protein coding gene Chr11:72588441-72639414 (-)
AKR/J MGP_AKRJ_G0018633
protein coding gene Chr11:74790190-74840002 (-)
BALB/cJ MGP_BALBcJ_G0018637
protein coding gene Chr11:72956476-73006353 (-)
C3H/HeJ MGP_C3HHeJ_G0018450
protein coding gene Chr11:74790221-74840755 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019088
protein coding gene Chr11:77748839-77803826 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016723
protein coding gene Chr11:69605492-69659042 (-)
CAST/EiJ MGP_CASTEiJ_G0018004
protein coding gene Chr11:75153611-75206635 (-)
CBA/J MGP_CBAJ_G0018420
protein coding gene Chr11:81160665-81215098 (-)
DBA/2J MGP_DBA2J_G0018529
protein coding gene Chr11:72188947-72239034 (-)
FVB/NJ MGP_FVBNJ_G0018519
protein coding gene Chr11:71757938-71808709 (-)
LP/J MGP_LPJ_G0018600
protein coding gene Chr11:75978370-76030830 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018545
protein coding gene Chr11:81774618-81832980 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019128
protein coding gene Chr11:74982980-75036560 (-)
PWK/PhJ MGP_PWKPhJ_G0017775
protein coding gene Chr11:72876576-72927754 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017566
protein coding gene Chr11:74537905-74589042 (-)
WSB/EiJ MGP_WSBEiJ_G0018057
protein coding gene Chr11:74787446-74838687 (-)



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
    UniProt: P43034

  • Chr Location
    17p13.3; chr17:2593210-2685617 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 5 models
      
IDs
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
    25 phenotypes from multigenic genotypes
    6 images
    63 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18472 NCBI Gene Model | MGI Sequence Detail 50436 C57BL/6J ±  kb
    transcript NR_037610 RefSeq | MGI Sequence Detail 5813 C57BL/6  
    polypeptide P63005 UniProt | EBI | MGI Sequence Detail 410 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 326
      Genomic 28
      cDNA 288
      Primer pair 8
      Other 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-16183, MGD-MRK-39519
    References
    more
    • Summaries
      All 148
      Developmental Gene Expression 40
      Diseases 4
      Gene Ontology 40
      Phenotypes 63
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:262773 Li X, et al., Hepatic loss of Lissencephaly 1 (Lis1) induces fatty liver and accelerates liver tumorigenesis in mice. J Biol Chem. 2018 Apr 6;293(14):5160-5171

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory