Pafah1b1 - platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 Gene

Mus musculus

Also known as Lis1; Mdsh; LIS-1; Ms10u; Pafaha; MMS10-U

Gene ID: 18472 | Gene type: protein coding

About Pafah1b1

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]

Pafah1b1 Products(1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	11344260	MGI
enables microtubule binding	IDA IDA: Inferred from direct assay	11163259	MGI
enables phosphoprotein binding	IPI IPI: Inferred from physical interaction	14578885	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	11231056	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of JNK cascade	IGI IGI: Inferred from genetic interaction	22073305	MGI
acts upstream of or within acrosome assembly	IMP IMP: Inferred from mutant phenotype	13129914	MGI
acts upstream of or within actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	14507966	MGI
acts upstream of or within adult locomotory behavior	IMP IMP: Inferred from mutant phenotype	10541472	MGI
acts upstream of or within ameboidal-type cell migration	IMP IMP: Inferred from mutant phenotype	22073305	MGI
involved in auditory receptor cell development	IMP IMP: Inferred from mutant phenotype	23533177	MGI
acts upstream of or within cell migration	IMP IMP: Inferred from mutant phenotype	12629176	MGI
acts upstream of or within cerebral cortex development	IGI IGI: Inferred from genetic interaction	18469343	MGI
acts upstream of or within cerebral cortex development	IMP IMP: Inferred from mutant phenotype	11344260	MGI
acts upstream of or within chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	10729324	MGI
involved in cochlea development	IMP IMP: Inferred from mutant phenotype	23533177	MGI
involved in cortical microtubule organization	IMP IMP: Inferred from mutant phenotype	21844209	MGI
acts upstream of or within establishment of localization in cell	IMP IMP: Inferred from mutant phenotype	22073305	MGI
involved in establishment of planar polarity of embryonic epithelium	IMP IMP: Inferred from mutant phenotype	23533177	MGI
acts upstream of or within hippocampus development	IGI IGI: Inferred from genetic interaction	17330141	MGI
acts upstream of or within hippocampus development	IMP IMP: Inferred from mutant phenotype	10729324	MGI
acts upstream of or within interneuron migration	IMP IMP: Inferred from mutant phenotype	15331402	MGI
acts upstream of or within layer formation in cerebral cortex	IGI IGI: Inferred from genetic interaction	17330141	MGI
acts upstream of or within learning or memory	IMP IMP: Inferred from mutant phenotype	10541472	MGI
acts upstream of or within maintenance of centrosome location	IMP IMP: Inferred from mutant phenotype	23533177	MGI
acts upstream of or within microtubule cytoskeleton organization	IGI IGI: Inferred from genetic interaction	16107726	MGI
acts upstream of or within microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	22073305	MGI
involved in microtubule cytoskeleton organization involved in establishment of planar polarity	IMP IMP: Inferred from mutant phenotype	23533177	MGI
involved in modulation of chemical synaptic transmission	IDA IDA: Inferred from direct assay	29150182	MGI
involved in modulation of chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	29150182	MGI
acts upstream of or within myeloid leukocyte migration	IMP IMP: Inferred from mutant phenotype	22073305	MGI
acts upstream of or within negative regulation of JNK cascade	IGI IGI: Inferred from genetic interaction	22073305	MGI
acts upstream of or within neuroblast proliferation	IMP IMP: Inferred from mutant phenotype	12629176	MGI
acts upstream of or within neuromuscular process controlling balance	IMP IMP: Inferred from mutant phenotype	10541472	MGI
acts upstream of or within neuron migration	IGI IGI: Inferred from genetic interaction	12796778	MGI
acts upstream of or within neuron migration	IMP IMP: Inferred from mutant phenotype	9697693	MGI
acts upstream of or within nuclear membrane disassembly	IMP IMP: Inferred from mutant phenotype	18809722	MGI
acts upstream of or within osteoclast development	IMP IMP: Inferred from mutant phenotype	22073305	MGI
involved in positive regulation of cellular component organization	IMP IMP: Inferred from mutant phenotype	23533177	MGI
acts upstream of or within positive regulation of cytokine-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	22073305	MGI
involved in positive regulation of dendritic spine morphogenesis	IMP IMP: Inferred from mutant phenotype	23483716	MGI
involved in positive regulation of embryonic development	IMP IMP: Inferred from mutant phenotype	23533177	MGI
acts upstream of or within protein secretion	IMP IMP: Inferred from mutant phenotype	22073305	MGI
acts upstream of or within radial glia-guided pyramidal neuron migration	IGI IGI: Inferred from genetic interaction	16107726	MGI
involved in reelin-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	17330141	MGI
acts upstream of or within regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	14507966	MGI
involved in regulation of microtubule cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	23533177	MGI
involved in regulation of postsynapse organization	IDA IDA: Inferred from direct assay	23483716	MGI
involved in regulation of postsynapse organization	IMP IMP: Inferred from mutant phenotype	23483716	MGI
acts upstream of or within retrograde axonal transport	IDA IDA: Inferred from direct assay	11163259	MGI
acts upstream of or within transmission of nerve impulse	IMP IMP: Inferred from mutant phenotype	17433713	MGI
acts upstream of or within vesicle transport along microtubule	IGI IGI: Inferred from genetic interaction	16107726	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
is active in Schaffer collateral - CA1 synapse	IDA IDA: Inferred from direct assay	29150182	MGI
is active in Schaffer collateral - CA1 synapse	IMP IMP: Inferred from mutant phenotype	29150182	MGI
located in cell leading edge	IDA IDA: Inferred from direct assay	14691133	MGI
located in centrosome	IDA IDA: Inferred from direct assay	11163259	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	12551946	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	23483716	MGI
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	23483716	MGI
part of microtubule associated complex	IDA IDA: Inferred from direct assay	11163259	MGI
located in microtubule cytoskeleton	IDA IDA: Inferred from direct assay	13129914	MGI
located in motile cilium	IDA IDA: Inferred from direct assay	17314247	MGI
NOT located in non-motile cilium	IDA IDA: Inferred from direct assay	17314247	MGI
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	14578885	MGI
located in stereocilium	IDA IDA: Inferred from direct assay	23533177	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

platelet-activating factor acetylhydrolase IB subunit beta

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
plate

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09967	PAFAH1B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Pafah1b1	NCBI	NCBI:5048

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