PAFAH1B1

Platelet-activating factor acetylhydrolase IB subunit alpha or Lisencephaly protein-1 (LIS-1) is an enzyme that in humans is encoded by the PAFAH1B1 gene.^[5][6][7] The protein plays an important role in regulating the motor protein dynein.^[8]

PAFAH1B1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UUJ, 1VYH
Identifiers
Aliases	PAFAH1B1, LIS1, LIS2, MDCR, MDS, PAFAH, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa), NudF, platelet activating factor acetylhydrolase 1b regulatory subunit 1
External IDs	OMIM: 601545; MGI: 109520; HomoloGene: 371; GeneCards: PAFAH1B1; OMA:PAFAH1B1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.3 Start 2,593,210 bp[1] End 2,685,615 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B5|11 45.76 cM Start 74,564,775 bp[2] End 74,615,496 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm middle temporal gyrus left testis right testis cerebellar vermis frontal pole Pons paraflocculus of cerebellum orbitofrontal cortex lateral nuclear group of thalamus Top expressed in seminiferous tubule dentate gyrus of hippocampal formation granule cell primary visual cortex superior frontal gyrus CA3 field cingulate gyrus substantia nigra cerebellar cortex perirhinal cortex entorhinal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function heparin binding phospholipase binding dynactin binding protein-containing complex binding protein homodimerization activity protein binding dynein intermediate chain binding microtubule binding phosphoprotein binding phospholipase A2 activity dynein complex binding microtubule plus-end binding Cellular component cytoplasm cytosol nuclear membrane nuclear envelope membrane microtubule organizing center perinuclear region of cytoplasm neuron projection microtubule cytoskeleton nucleus kinetochore centrosome astral microtubule microtubule associated complex extracellular exosome kinesin complex microtubule cytoskeleton growth cone spindle axon soma cell cortex vesicle cell leading edge axon cytoplasm motile cilium stereocilium central region of growth cone cytoplasmic microtubule Biological process germ cell development positive regulation of cytokine-mediated signaling pathway neuromuscular process controlling balance nuclear migration microtubule cytoskeleton organization involved in establishment of planar polarity G2/M transition of mitotic cell cycle stem cell division acrosome assembly cell cycle osteoclast development positive regulation of embryonic development microtubule organizing center organization cochlea development platelet activating factor metabolic process regulation of GTPase activity adult locomotory behavior transmission of nerve impulse regulation of microtubule cytoskeleton organization positive regulation of cellular component organization positive regulation of mitotic cell cycle protein secretion cortical microtubule organization learning or memory neuroblast proliferation positive regulation of axon extension auditory receptor cell development brain morphogenesis chemical synaptic transmission retrograde axonal transport cell differentiation negative regulation of neuron projection development neuron migration nervous system development cerebral cortex development establishment of centrosome localization ameboidal-type cell migration positive regulation of dendritic spine morphogenesis microtubule cytoskeleton organization actin cytoskeleton organization vesicle transport along microtubule lipid metabolism establishment of planar polarity of embryonic epithelium cell division multicellular organism development lipid catabolic process negative regulation of JNK cascade brain development layer formation in cerebral cortex nuclear membrane disassembly cerebral cortex neuron differentiation corpus callosum morphogenesis hippocampus development cell migration sister chromatid cohesion establishment of mitotic spindle orientation microtubule-based process maintenance of centrosome location ciliary basal body-plasma membrane docking regulation of G2/M transition of mitotic cell cycle transport microtubule sliding Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5048 18472 Ensembl ENSG00000007168 ENSMUSG00000020745 UniProt P43034 P63005 RefSeq (mRNA) NM_000430 NM_013625 RefSeq (protein) NP_000421 NP_038653 Location (UCSC) Chr 17: 2.59 – 2.69 Mb Chr 11: 74.56 – 74.62 Mb PubMed search [3] [4]
Wikidata
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Function

PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller–Dieker syndrome. PAFAH1B1 encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acetylhydrolase, 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.^[7]

According to one study, PAFAH1B1 interacts with VLDL receptor activated by reelin.^[9]

Genomics

The gene is located at chromosome 17p13.3 on the Watson (plus) strand. The gene is 91,953 bases in length and encodes a protein of 410 amino acids (predicted molecular weight 46.638 kilodaltons).

Interactions

PAFAH1B1 has been shown to interact with DYNC1H1,^[10] CLIP1,^[11] NDEL1,^[12][13] NDE1,^[14] PAFAH1B3,^[15] PAFAH1B2,^[15] NUDC,^[16] TUBA1A^[17] and Doublecortin.^[18]

See also

• platelet-activating factor
• PAFAH1B2
• PAFAH1B3