RBCC Red Blood Cell Collection

LIS1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PAFAH1B1 , LIS1, MDCR, MDS, PAFAHA
Protein names and data: LIS1_HUMAN , Platelet-activating factor acetylhydrolase IB subunit alpha , Lissencephaly-1 protein; LIS-1; PAF acetylhydrolase 45 kDa subunit; PAF-AH 45 kDa subunit; PAF-AH alpha; PAFAH alpha Lenght: 410 a.a.
Mass: 46638 Da
fasta formatted sequence
Function: Required 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.
Disease: ( OMIM: 247200 601545 607432 ) Lissencephaly 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Subcortical 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Miller-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.
Cellular location: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle (By similarity). Nucleus membrane (Potential). 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.
Tissue specificity: Fairly ubiquitous expression in both the frontal and occipital areas of the brain.

Genetic variants

31 - 31 F -> S (in LIS1). VAR_015398
149 - 149 H -> R (in LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro). VAR_007724
162 - 162 G -> S (in LIS1; dbSNP:rs28936410). VAR_015399 28936410
169 - 169 S -> P (in SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro). VAR_010203
241 - 241 R -> P (in SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells; dbSNP:rs28936411). VAR_037300 28936411
277 - 277 H -> P (in LIS1). VAR_037301
317 - 317 D -> H (in LIS1; reduces neuronal migration in vitro; dbSNP:rs28936689). VAR_015400 28936689

Database cross-references

UniProt: P43034
Ensembl: ENST00000397195
MIM: 247200
MIM: 601545
MIM: 607432
neXtProt: NX_P43034
Antibodypedia: P43034 (may not find the protein thus also not any antibody)
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