Gene Information
Gene Symbol
Entrez Gene ID
Gene Name
Platelet activating factor acetylhydrolase 1b regulatory subunit 1
Chromosomal Location
This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
RefSeq DNA
RefSeq mRNA

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000132 Biological process Establishment of mitotic spindle orientation IBA 21873635
GO:0000132 Biological process Establishment of mitotic spindle orientation IMP 11056532
GO:0000226 Biological process Microtubule cytoskeleton organization ISS 10729324
GO:0001764 Biological process Neuron migration IMP 11163258
GO:0001764 Biological process Neuron migration ISS 10729324
Protein Information
Protein Name
Platelet-activating factor acetylhydrolase IB subunit alpha, lissencephaly 1 protein, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa), platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD), platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769).
Refseq Proteins
Pfam Accession Pfam ID
PF08513 LisH
PF00400 WD40

Ether lipid metabolism
Metabolic pathways


Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
AURKA Activation by TPX2
EML4 and NUDC in mitotic spindle formation

ENSP00000434412 P50454 P50454
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Associated Diseases

Disease groupDisease NameReferences
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases
Endocrine System Diseases
Psychiatric/Brain disorders
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
V279F (G994T) SNP in exon 9, A379V SNP in exon 11, R92H SNP in exon 4 
PCOS, insulin resistance, dyslipidemia, chronic low-grade inflammation, endothelial dysfunction and vascular injury, type 2 diabetes 
2003 Rotterdam ESHRE/ASRM consensus criteria (revised) 
862 PCOS women and 755 control women  
The increased plasma PAF-AH and apoB-PAF-AH activities in patients with H allele of R92H are related to the R92 ? H variation, changes in plasma lipoprotein levels, insulin resistance, aging, and gaining weight and thus may be involved in the pathogenesis of PCOS and the increased risks of future cardiovascular diseases. 

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