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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:74564775-74615210 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 45.76 cM, cytoband B3
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    875 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109520
 protein coding gene Chr11:74564775-74615496 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAFAH1B1, platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • Synonyms
    LIS1, LIS2, MDCR, MDS, NudF, PAFAH
  • Links
    NCBI Gene ID: 5048
    neXtProt AC: NX_P43034
    UniProt: P43034

  • Chr Location
    17p13.3; chr17:2593183-2685615 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pafah1b1 mouse models; 2 with human PAFAH1B1 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
 View 5 models
      
IDs
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
less
  • Phenotype Summary
    34 phenotypes from 5 alleles in 6 genetic backgrounds
    26 phenotypes from multigenic genotypes
    6 images
    79 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.
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
less
  • All GO Annotations
    154
  • GO References
    48
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1290
  • Tissues
    245
  • cDNA Data
    285
  • Literature Summary
    46
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide P63005 UniProt | EBI | MGI Sequence Detail 410 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 329
      Genomic 28
      cDNA 288
      Primer pair 10
      Other 3

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-16183, MGD-MRK-39519
    References
    more
    • Summaries
      All 172
      Developmental Gene Expression 46
      Diseases 4
      Gene Ontology 48
      Phenotypes 79
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:336446 Kshirsagar A, et al., LIS1 RNA-binding orchestrates the mechanosensitive properties of embryonic stem cells in AGO2-dependent and independent ways. Nat Commun. 2023 Jun 6;14(1):3293
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory