LMPD Database

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LMP001247

UniProt Annotations

Entry Information
Gene Nameplatelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Protein EntryLIS1_HUMAN
UniProt IDP43034
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43034-1; Sequence=Displayed; Name=2; IsoId=P43034-2; Sequence=VSP_019376, VSP_019377, VSP_019378, VSP_019379; Note=No experimental confirmation available.;
DiseaseLissencephaly 1 (LIS1) [MIM
DiseaseMiller-Dieker lissencephaly syndrome (MDLS) [MIM
DiseaseSubcortical band heterotopia (SBH) [MIM
DomainDimerization mediated by the LisH domain may be required to activate dynein. {ECO
FunctionRequired 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. {ECO
InteractionQ9CZA6:Nde1 (xeno); NbExp=6; IntAct=EBI-720620, EBI-309934;
Sequence CautionSequence=AAA02882.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO
SimilarityBelongs to the WD repeat LIS1/nudF family. {ECO
SimilarityContains 1 LisH domain. {ECO
SimilarityContains 7 WD repeats. {ECO
Subcellular LocationCytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle {ECO
SubunitComponent of cytosolic PAF-AH IB, which is composed of PAFAH1B1 (alpha), PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Trimer formation is not essential for the catalytic activity of the enzyme which is contributed solely by the PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Interacts with IQGAP1, KATNB1 and NUDC. Interacts with DAB1 when DAB1 is phosphorylated in response to RELN/reelin signaling (By similarity). Can self-associate. Interacts with DCX, dynein, dynactin, NDE1, NDEL1 and RSN. Interacts with DISC1, and this interaction is enhanced by NDEL1. Interacts with ASUN. {ECO
Tissue SpecificityFairly ubiquitous expression in both the frontal and occipital areas of the brain.