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

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: human all
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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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LIS1 RNA-binding orchestrates the mechanosensitive properties of embryonic stem cells in AGO2-dependent and independent ways.
Title: LIS1 RNA-binding orchestrates the mechanosensitive properties of embryonic stem cells in AGO2-dependent and independent ways.
A selective LIS1 requirement for mitotic spindle assembly discriminates distinct T-cell division mechanisms within the T-cell lineage.
Title: A selective LIS1 requirement for mitotic spindle assembly discriminates distinct T-cell division mechanisms within the T-cell lineage.
Lis1 mutation prevents basal radial glia-like cell production in the mouse.
Title: Lis1 mutation prevents basal radial glia-like cell production in the mouse.
Properties of the epileptiform activity in the cingulate cortex of a mouse model of LIS1 dysfunction.
Title: Properties of the epileptiform activity in the cingulate cortex of a mouse model of LIS1 dysfunction.
Emergence of non-canonical parvalbumin-containing interneurons in hippocampus of a murine model of type I lissencephaly.
Title: Emergence of non-canonical parvalbumin-containing interneurons in hippocampus of a murine model of type I lissencephaly.
This study demonstrated that LIS1 supports synaptic function and plasticity of mature CA1 neurons.
Title: Mature Hippocampal Neurons Require LIS1 for Synaptic Integrity: Implications for Cognition.
genetic deletion of Lis1 in the mouse liver increases lipid accumulation and inflammation in this organ. Further analysis revealed that loss of Lis1 triggers endoplasmic reticulum (ER) stress and reduces triglyceride secretion.
Title: Hepatic loss of Lissencephaly 1 (Lis1) induces fatty liver and accelerates liver tumorigenesis in mice.
Lis1 loss in the midbrain/hindbrain causes a severe phenotype. Brainstem regions known to house cardiorespiratory centers showed signs of axonal dysfunction in KO animals. Transport defects, neurofilament alterations, and varicosities were observed in axons in cultured dorsal root ganglia neurons from KO animals.
Title: An Essential Postdevelopmental Role for Lis1 in Mice.
This study examined the effect of Pafah1b1 overexpression on radial migration of cerebral cortical neurons and found that enhanced expression of Pafah1b1 caused over-migration of neurons into the marginal zone, and Pafah1b1-overexpressing neurons that entered the marginal zone were disoriented.
Title: Enhanced expression of Pafah1b1 causes over-migration of cerebral cortical neurons into the marginal zone.
Lis1 dysfunction reduces migration and traction force production in fibroblasts.
Title: Lis1 dysfunction leads to traction force reduction and cytoskeletal disorganization during cell migration.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (6) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548366

Ms10u (e-PCR), detects polymorphism
- UniSTS:234004

D11Mit352 (e-PCR), detects polymorphism
- UniSTS:126568

D11Bhm7 (e-PCR), detects polymorphism
- UniSTS:141675

D11Bhm9 (e-PCR), detects polymorphism
- UniSTS:141697

Pafah1b1 (e-PCR), detects polymorphism
- UniSTS:499130

Pafah1b1 (e-PCR), detects polymorphism
- UniSTS:144112

PMC310661P3 (e-PCR)
- UniSTS:272625

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

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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

EC 3.1.1.47

NCBI Reference Sequences (RefSeq)

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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)

NM_013625.4 → NP_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:104 → 408

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:111 → 148

7WD40; WD40 repeat [structural motif]

pfam08513
Location:10 → 34

LisH

RNA

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