Platelet-activating factor acetylhydrolase IB subunit alpha is an enzyme that in humans is encoded by the PAFAH1B1 gene.[5][6][7] The protein is often referred to as Lis1 and plays an important role in regulating the motor protein Dynein.[8]
| PAFAH1B1 |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| List of PDB id codes |
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1UUJ, 1VYH |
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| Identifiers |
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| 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 |
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| External IDs | OMIM: 601545 MGI: 109520 HomoloGene: 371 GeneCards: PAFAH1B1 |
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| Gene location (Human) |
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 | | Chr. | Chromosome 17 (human)[1] |
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| | Band | 17p13.3 | Start | 2,593,210 bp[1] |
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| End | 2,685,615 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 11 (mouse)[2] |
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| | Band | 11 B5|11 45.76 cM | Start | 74,673,949 bp[2] |
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| End | 74,724,670 bp[2] |
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| RNA expression pattern |
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 | | More reference expression data |
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| Gene ontology |
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| Molecular function | • heparin binding
• phospholipase binding
• dynactin binding
• GO:0032403 macromolecular complex binding
• protein homodimerization activity
• GO:0001948 protein binding
• dynein intermediate chain binding
• microtubule binding
• phosphoprotein binding
• phospholipase A2 activity
• dynein complex binding
• microtubule plus-end binding
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| Cellular component | • cytoplasm
• cytosol
• not the membrane
• nuclear envelope
• membrane
• microtubule organizing center
• perinuclear region of cytoplasm
• neuron projection
• microtubules
• cytoskeleton
• cell nucleus
• kinetochore
• centrosome
• astral microtubule
• microtubule associated complex
• extracellular exosome
• kinesin complex
• microtubule cytoskeleton
• growth cone
• spindle
• axon
• neuronal cell body
• cell cortex
• vesicle
• cell leading edge
• axon cytoplasm
• motile cilium
• stereocilium
• central region of growth cone
• cytoplasmic microtubule
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| 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
• GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 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
• regulation of microtubule motor activity
• 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 envelope 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 docking
• regulation of G2/M transition of mitotic cell cycle
• transport
• microtubule sliding
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| Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 17: 2.59 – 2.69 Mb | Chr 11: 74.67 – 74.72 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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FunctionEditPAFAH1B1 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 VLDLR receptor activated by reelin.[9]
GenomicsEditThe 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).
InteractionsEditPAFAH1B1 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]
