U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 18472, updated on 4-Jan-2025

    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 active in Schaffer collateral - CA1 synapse and glutamatergic synapse. Is expressed in several structures, including alimentary system; genitourinary system; integumental 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, Jan 2025]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 47.2), cerebellum adult (RPKM 46.4) and 26 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Pafah1b1 in Genome Data Viewer
    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

    Clone Names

    • MGC25297

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dynein complex binding  
    enables dynein complex binding  
    enables dynein complex binding  
    enables dynein intermediate chain binding  
    enables dynein intermediate chain binding  
    enables identical protein binding PubMed 
    enables microtubule binding PubMed 
    enables microtubule binding  
    enables microtubule plus-end binding  
    enables phosphoprotein binding PubMed 
    enables protein binding PubMed 
    enables protein heterodimerization activity  
    enables protein-containing complex binding  
    Items 1 - 25 of 83
    Process Evidence Code Pubs
    acts_upstream_of JNK cascade PubMed 
    acts_upstream_of_or_within acrosome assembly PubMed 
    acts_upstream_of_or_within actin cytoskeleton organization PubMed 
    acts_upstream_of_or_within adult locomotory behavior PubMed 
    involved_in adult locomotory behavior  
    acts_upstream_of_or_within ameboidal-type cell migration PubMed 
    involved_in auditory receptor cell development PubMed 
    involved_in brain morphogenesis  
    involved_in brain morphogenesis  
    involved_in brain morphogenesis  
    acts_upstream_of_or_within cell migration PubMed 
    acts_upstream_of_or_within cerebral cortex development PubMed 
    acts_upstream_of_or_within cerebral cortex development PubMed 
    involved_in cerebral cortex development  
    involved_in cerebral cortex neuron differentiation  
    involved_in cerebral cortex neuron differentiation  
    acts_upstream_of_or_within chemical synaptic transmission PubMed 
    involved_in cochlea development PubMed 
    involved_in corpus callosum morphogenesis  
    involved_in corpus callosum morphogenesis  
    involved_in cortical microtubule organization PubMed 
    involved_in establishment of centrosome localization  
    involved_in establishment of centrosome localization  
    acts_upstream_of_or_within establishment of localization in cell PubMed 
    involved_in establishment of mitotic spindle orientation  
    involved_in establishment of mitotic spindle orientation  
    involved_in establishment of mitotic spindle orientation  
    involved_in establishment of planar polarity of embryonic epithelium PubMed 
    involved_in germ cell development  
    acts_upstream_of_or_within hippocampus development PubMed 
    acts_upstream_of_or_within hippocampus development PubMed 
    acts_upstream_of_or_within interneuron migration PubMed 
    acts_upstream_of_or_within layer formation in cerebral cortex PubMed 
    acts_upstream_of_or_within learning or memory PubMed 
    involved_in lipid catabolic process  
    acts_upstream_of_or_within maintenance of centrosome location PubMed 
    acts_upstream_of_or_within microtubule cytoskeleton organization PubMed 
    acts_upstream_of_or_within microtubule cytoskeleton organization PubMed 
    involved_in microtubule cytoskeleton organization involved in establishment of planar polarity PubMed 
    involved_in microtubule organizing center organization  
    involved_in microtubule organizing center organization  
    involved_in microtubule organizing center organization  
    involved_in microtubule sliding  
    involved_in microtubule-based process  
    involved_in modulation of chemical synaptic transmission PubMed 
    involved_in modulation of chemical synaptic transmission PubMed 
    acts_upstream_of_or_within myeloid leukocyte migration PubMed 
    acts_upstream_of_or_within negative regulation of JNK cascade PubMed 
    involved_in negative regulation of neuron projection development  
    involved_in negative regulation of neuron projection development  
    acts_upstream_of_or_within neuroblast proliferation PubMed 
    acts_upstream_of_or_within neuromuscular process controlling balance PubMed 
    involved_in neuromuscular process controlling balance  
    acts_upstream_of_or_within neuron migration PubMed 
    acts_upstream_of_or_within neuron migration PubMed 
    involved_in neuron migration  
    acts_upstream_of_or_within nuclear membrane disassembly PubMed 
    involved_in nuclear migration  
    involved_in nuclear migration  
    involved_in nuclear migration  
    acts_upstream_of_or_within osteoclast development PubMed 
    involved_in positive regulation of axon extension  
    involved_in positive regulation of axon extension  
    involved_in positive regulation of cellular component organization PubMed 
    acts_upstream_of_or_within positive regulation of cytokine-mediated signaling pathway PubMed 
    involved_in positive regulation of dendritic spine morphogenesis PubMed 
    involved_in positive regulation of embryonic development PubMed 
    involved_in positive regulation of mitotic cell cycle  
    involved_in positive regulation of mitotic cell cycle  
    acts_upstream_of_or_within protein secretion PubMed 
    acts_upstream_of_or_within radial glia-guided pyramidal neuron migration PubMed 
    involved_in reelin-mediated signaling pathway PubMed 
    acts_upstream_of_or_within regulation of GTPase activity PubMed 
    involved_in regulation of microtubule cytoskeleton organization PubMed 
    involved_in regulation of postsynapse organization PubMed 
    involved_in regulation of postsynapse organization PubMed 
    involved_in retrograde axonal transport  
    acts_upstream_of_or_within retrograde axonal transport PubMed 
    involved_in stem cell division  
    involved_in stem cell division  
    acts_upstream_of_or_within transmission of nerve impulse PubMed 
    involved_in vesicle transport along microtubule  
    acts_upstream_of_or_within vesicle transport along microtubule PubMed 
    Items 1 - 25 of 83
    Items 1 - 20 of 43
    Component Evidence Code Pubs
    part_of 1-alkyl-2-acetylglycerophosphocholine esterase complex  
    part_of 1-alkyl-2-acetylglycerophosphocholine esterase complex  
    is_active_in Schaffer collateral - CA1 synapse PubMed 
    is_active_in Schaffer collateral - CA1 synapse PubMed 
    located_in astral microtubule  
    located_in astral microtubule  
    located_in axon  
    located_in axon cytoplasm  
    located_in cell cortex  
    located_in cell cortex  
    located_in cell leading edge PubMed 
    located_in central region of growth cone  
    located_in central region of growth cone  
    located_in centrosome PubMed 
    located_in centrosome  
    located_in cytoplasm PubMed 
    is_active_in cytoplasmic microtubule  
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse PubMed 
    located_in growth cone  
    part_of kinesin complex  
    part_of kinesin complex  
    is_active_in kinetochore  
    located_in kinetochore  
    located_in kinetochore  
    part_of microtubule associated complex  
    part_of microtubule associated complex PubMed 
    part_of microtubule associated complex  
    located_in microtubule cytoskeleton PubMed 
    located_in motile cilium PubMed 
    is_active_in neuron projection  
    is_active_in neuronal cell body  
    located_in neuronal cell body  
    located_in neuronal cell body  
    NOT located_in non-motile cilium PubMed 
    is_active_in nuclear envelope  
    located_in nuclear envelope  
    located_in nuclear envelope PubMed 
    located_in nuclear membrane  
    located_in perinuclear region of cytoplasm PubMed 
    located_in stereocilium PubMed 
    located_in vesicle  
    located_in vesicle  
    Items 1 - 20 of 43

    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)
    Loading
    Loading
    External link. Please review our privacy policy.