LIS1

PAFAH1B1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UUJ, 1VYH,%%s1UUJ, 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
Gene location (Human) Chr. Chromosome 17 (human) Band 17p13.3 Start 2,593,210 bp End 2,685,615 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11 B5|11 45.76 cM Start 74,673,949 bp End 74,724,670 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • heparin binding • phospholipase binding • dynactin binding • protein complex binding • protein homodimerization activity • protein binding • dynein intermediate chain binding • microtubule binding • phosphoprotein binding • phospholipase A2 activity • dynein complex 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 • neuronal cell body • cell cortex • vesicle • cell leading edge • axon cytoplasm • motile cilium • stereocilium • central region of growth cone 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 • 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 metabolic process • 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 Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5048	18472
Ensembl	ENSG00000007168	ENSMUSG00000020745
UniProt	P43034 P63005	P63005
RefSeq (mRNA)	NM_000430	NM_013625
RefSeq (protein)	NP_000421 NP_038653	NP_038653
Location (UCSC)	Chr 17: 2.59 – 2.69 Mb	Chr 17: 74.67 – 74.72 Mb
PubMed search

1UUJ, 1VYH,%%s1UUJ, 1VYH

5048

18472

ENSG00000007168

ENSMUSG00000020745

P43034
P63005

P63005

NM_000430

NM_013625

NP_000421
NP_038653

NP_038653

Platelet-activating factor acetylhydrolase IB subunit alpha is an enzyme that in humans is encoded by the PAFAH1B1 gene. The protein is often referred to as Lis1 and plays an important role in regulating the motor protein Dynein.

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 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.

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