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Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 [ Mus musculus (house mouse) ]

Gene ID: 18472, updated on 3-Apr-2024

Summary

Official Symbol
Pafah1b1provided by MGI
Official Full Name
platelet-activating factor acetylhydrolase, isoform 1b, subunit 1provided by MGI
Primary source
MGI:MGI:109520
See related
Ensembl:ENSMUSG00000020745 AllianceGenome:MGI:109520
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Lis1; Mdsh; LIS-1; Ms10u; Pafaha; MMS10-U
Summary
Enables identical protein binding activity; microtubule binding activity; and phosphoprotein binding activity. Involved in several processes, including cortical microtubule organization; establishment of planar polarity; and inner ear development. Acts upstream of or within several processes, including cytoskeleton organization; nervous system development; and transport along microtubule. Located in several cellular components, including centrosome; perinuclear region of cytoplasm; and stereocilium. Part of microtubule associated complex. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; nervous system; and sensory organ. Used to study Miller-Dieker lissencephaly syndrome and lissencephaly. Human ortholog(s) of this gene implicated in lissencephaly and lissencephaly 1. Orthologous to human PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E18 (RPKM 47.2), cerebellum adult (RPKM 46.4) and 26 other tissues See more
Orthologs
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Genomic context

Location:
11 B5; 11 45.76 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (74564775..74615210, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (74673949..74724384, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 50590 Neighboring gene coiled-coil domain containing 92B Neighboring gene STARR-positive B cell enhancer ABC_E3971 Neighboring gene clustered mitochondria homolog Neighboring gene STARR-seq mESC enhancer starr_29966 Neighboring gene STARR-seq mESC enhancer starr_29969 Neighboring gene predicted gene, 24211 Neighboring gene predicted gene, 40198

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC25297

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables dynein complex binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables dynein complex binding ISO
Inferred from Sequence Orthology
more info
 
enables dynein intermediate chain binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
enables microtubule binding ISO
Inferred from Sequence Orthology
more info
 
enables microtubule plus-end binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of JNK cascade IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within acrosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within adult locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in adult locomotory behavior ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within ameboidal-type cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in auditory receptor cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in brain morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in brain morphogenesis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell division IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cerebral cortex development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cerebral cortex development ISO
Inferred from Sequence Orthology
more info
 
involved_in cerebral cortex neuron differentiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cochlea development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in corpus callosum morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in cortical microtubule organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of centrosome localization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of mitotic spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in establishment of mitotic spindle orientation ISO
Inferred from Sequence Orthology
more info
 
involved_in establishment of planar polarity of embryonic epithelium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in germ cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within hippocampus development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within hippocampus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within interneuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within layer formation in cerebral cortex IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within learning or memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within maintenance of centrosome location IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within microtubule cytoskeleton organization IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microtubule cytoskeleton organization involved in establishment of planar polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in microtubule organizing center organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in microtubule organizing center organization ISO
Inferred from Sequence Orthology
more info
 
involved_in microtubule-based process ISO
Inferred from Sequence Orthology
more info
 
involved_in modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
involved_in modulation of chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within myeloid leukocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of JNK cascade IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of neuron projection development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within nervous system development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within neuroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuromuscular process controlling balance ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neuron migration IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron migration ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within nuclear membrane disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear migration IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in nuclear migration ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within osteoclast development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of axon extension ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cellular component organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of cytokine-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of dendritic spine morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mitotic cell cycle ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within radial glia-guided pyramidal neuron migration IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in reelin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of postsynapse organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of postsynapse organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retrograde axonal transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within retrograde axonal transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in stem cell division ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within transmission of nerve impulse IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vesicle transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within vesicle transport along microtubule IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of 1-alkyl-2-acetylglycerophosphocholine esterase complex ISO
Inferred from Sequence Orthology
more info
 
is_active_in Schaffer collateral - CA1 synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in Schaffer collateral - CA1 synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in astral microtubule ISO
Inferred from Sequence Orthology
more info
 
located_in axon ISO
Inferred from Sequence Orthology
more info
 
located_in cell cortex ISO
Inferred from Sequence Orthology
more info
 
located_in cell leading edge IDA
Inferred from Direct Assay
more info
PubMed 
located_in central region of growth cone ISO
Inferred from Sequence Orthology
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasmic microtubule IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in growth cone ISO
Inferred from Sequence Orthology
more info
 
part_of kinesin complex ISO
Inferred from Sequence Orthology
more info
 
is_active_in kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in kinetochore ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 
part_of microtubule associated complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of microtubule associated complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of microtubule associated complex ISO
Inferred from Sequence Orthology
more info
 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
NOT located_in non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear envelope ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in vesicle ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
platelet-activating factor acetylhydrolase IB subunit beta
Names
PAF acetylhydrolase 45 kDa subunit
PAF-AH 45 kDa subunit
PAF-AH alpha
PAFAH alpha
Pafaha/Lis1
lissencephaly-1 protein
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
platelet-activating factor acetylhydrolase 45kD subunit
platelet-activating factor acetylhydrolase IB subunit alpha
NP_038653.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013625.4NP_038653.1  platelet-activating factor acetylhydrolase IB subunit beta

    See identical proteins and their annotated locations for NP_038653.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    AK144908, AK168929, BE456911, BQ895724
    Consensus CDS
    CCDS25035.1
    UniProtKB/Swiss-Prot
    P63005
    UniProtKB/TrEMBL
    Q3UH92, Q5SW18
    Related
    ENSMUSP00000021091.9, ENSMUST00000021091.15
    Conserved Domains (3) summary
    cd00200
    Location:104408
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    sd00039
    Location:111148
    7WD40; WD40 repeat [structural motif]
    pfam08513
    Location:1034
    LisH

RNA

  1. NR_037610.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' exon and is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK147507, AK160764, AK168929, BE456911

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    74564775..74615210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)