MGP Database

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MGP002192

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:607432]: A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six- layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. {ECO:0000269|PubMed:11502906, ECO:0000269|PubMed:15007136, ECO:0000269|PubMed:9063735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMiller-Dieker lissencephaly syndrome (MDLS) [MIM:247200]: A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseSubcortical band heterotopia (SBH) [MIM:607432]: SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. {ECO:0000269|PubMed:10441340, ECO:0000269|PubMed:14581661}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainDimerization mediated by the LisH domain may be required to activate dynein. {ECO:0000255|HAMAP-Rule:MF_03141}.
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:0000250, ECO:0000269|PubMed:15173193}.
InteractionQ9CZA6:Nde1 (xeno); NbExp=6; IntAct=EBI-720620, EBI-309934;
Sequence CautionSequence=AAA02882.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};
SimilarityBelongs to the WD repeat LIS1/nudF family. {ECO:0000255|HAMAP-Rule:MF_03141}.
SimilarityContains 1 LisH domain. {ECO:0000255|HAMAP- Rule:MF_03141}.
SimilarityContains 7 WD repeats. {ECO:0000255|HAMAP- Rule:MF_03141}.
Subcellular LocationCytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle {ECO:0000255|HAMAP- Rule:MF_03141}. Nucleus membrane {ECO:0000255|HAMAP- Rule:MF_03141}. Note=Redistributes to axons during neuronal development. Also localizes to the microtubules of the manchette in elongating spermatids and to the meiotic spindle in spermatocytes (By similarity). Localizes to the plus end of microtubules and to the centrosome. May localize to the nuclear membrane. {ECO:0000250}.
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:0000250, ECO:0000269|PubMed:11001923, ECO:0000269|PubMed:11163258, ECO:0000269|PubMed:11889140, ECO:0000269|PubMed:12556484, ECO:0000269|PubMed:14962739, ECO:0000269|PubMed:14970193, ECO:0000269|PubMed:23097494}.
Tissue SpecificityFairly ubiquitous expression in both the frontal and occipital areas of the brain.
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