catalog number :
MBS242538
products full name :
Goat Polyclonal to Human PAFAH1B1 / LIS1
products short name :
PAFAH1B1 / LIS1
products name syn :
Anti-PAFAH1B1 / LIS1 Antibody IHC-plus; PAFAH1B1; LIS-1; LIS2; Lissencephaly 1 protein; Lissencephaly-1 protein; MDCR; MDS; PAFAHA; PAF-AH alpha; PAFAH; LIS1; PAF-AH 45 kDa subunit; PAFAH alpha; Human PAFAH1B1; LIS1
other names :
platelet-activating factor acetylhydrolase IB subunit alpha; Platelet-activating factor acetylhydrolase IB subunit alpha; platelet-activating factor acetylhydrolase IB subunit alpha; PAFAH1B1; lissencephaly 1 protein; platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa); platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD); platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa); Lissencephaly-1 protein; PAF acetylhydrolase 45 kDa subunit; PAF-AH alpha
products gene name :
PAFAH1B1
products gene name syn :
LIS1
other gene names :
PAFAH1B1; PAFAH1B1; MDS; LIS1; LIS2; MDCR; PAFAH
uniprot entry name :
LIS1_HUMAN
reactivity :
Bat, Gibbon, Bovine, Chicken, Dog, Xenopus, Gorilla, Hamster, Horse, Human, Monkey, Mouse, Orangutan, Pig, Rabbit, Rat, Zebrafish. Predicted Reactivity: Chimpanzee, Drosophila (at least 90% immunogen sequence identity)
specificity :
Human PAFAH1B1 / LIS1.
purity :
Immunoaffinity Purified
form :
Tris-buffered saline, pH 7.3, 0.5% BSA, 0.02% sodium azide
concentration :
0.5 mg/ml
storage stability :
Store at -20 degree C. Minimize freezing and thawing.
tested application :
Immunohistochemistry (IHC - Paraffin), Western Blot (WB), ELISA (EIA)
app notes :
ELISA (1:32000), IHC-P (3.75 ug/ml), WB (1 - 3 ug/ml). Usage: Immunohistochemistry: was validated for use in immunohistochemistry on a panel of 21 formalin-fixed, paraffin-embedded (FFPE) human tissues after heat induced antigen retrieval in pH 6.0 citrate buffer. After incubation with the primary anti.
other info1 :
Target Species: Human. Immunogen Description: Synthetic peptide TGSVDQTVKVWECR from the C-terminus of human PAFAH1B1 / LIS1 (NP_000421.1).
other info2 :
Immunogen Type: Synthetic peptide. Immunogen: PAFAH1B1 / LIS1 antibody was raised against synthetic peptide TGSVDQTVKVWECR from the C-terminus of human PAFAH1B1 / LIS1 (NP_000421.1). Percent identity by BLAST analysis: Human, Gorilla, Orangutan, Gibbon, Monkey, Marmoset, Mouse, Rat, Hamster, Elephant, Panda, Dog, Bat, Bovine, Cat, Horse, Rabbit, Pig, Opossum, Turkey, Chicken, Platypus, Xenopus, Salmon, Stickleback, Pufferfish, Zebrafish, Water flea, Tick (100%); Chimpanzee, Drosophila, Ant, Capsaspora (93%); Catfish, Mosquito, Sea anemone, Beetle, Trichoplax (86%).
products description :
PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly 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).
ncbi acc num :
NP_000421.1
ncbi gb acc num :
NM_000430.3
ncbi mol weight :
16,869 Da
ncbi pathways :
Anchoring Of The Basal Body To The Plasma Membrane Pathway (1127503); Assembly Of The Primary Cilium Pathway (1127502); Cell Cycle Pathway (530733); Cell Cycle, Mitotic Pathway (105765); Centrosome Maturation Pathway (105807); Ether Lipid Metabolism Pathway (82990); Ether Lipid Metabolism Pathway (365); G2/M Transition Pathway (105801); Lissencephaly Gene (LIS1) In Neuronal Migration And Development Pathway (137984); Loss Of Nlp From Mitotic Centrosomes Pathway (105811)
ncbi summary :
This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene 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. [provided by RefSeq, Apr 2009]
uniprot summary :
PAFAH1B1: 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. 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. Defects in PAFAH1B1 are the cause of lissencephaly type 1 (LIS1); also known as classic lissencephaly. LIS1 is characterized by agyria or pachgyria and disorganization of the clear neuronal lamination of normal six-layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. LIS1 is associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. Defects in PAFAH1B1 are the cause of subcortical band heterotopia (SBH). SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric ribbons of gray matter found in the central white matter between the cortex and the ventricular surface. Defects in PAFAH1B1 are a cause of Miller-Dieker lissencephaly syndrome (MDLS). MDLS is 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. Belongs to the WD repeat LIS1/nudF family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Lipid Metabolism - ether lipid; Cell cycle regulation. Chromosomal Location of Human Ortholog: 17p13.3. Cellular Component: centrosome; astral microtubule; nuclear membrane; leading edge; nuclear envelope; cell cortex; cytosol; kinetochore; kinesin complex; microtubule associated complex; growth cone; cell soma; axon; perinuclear region of cytoplasm; motile primary cilium. Molecular Function: heparin binding; dynein binding; protein binding; phospholipase binding; protein homodimerization activity; microtubule binding; dynein intermediate chain binding; phosphoprotein binding. Biological Process: acrosome formation; negative regulation of JNK cascade; platelet activating factor metabolic process; adult locomotory behavior; positive regulation of axon extension; stem cell division; protein secretion; neuron migration; positive regulation of mitotic cell cycle; retrograde axon cargo transport; microtubule-based process; cerebral cortex neuron differentiation; synaptic transmission; establishment of centrosome localization; learning and/or memory; establishment of mitotic spindle orientation; brain morphogenesis; vesicle transport along microtubule; G2/M transition of mitotic cell cycle; neuromuscular process controlling balance; layer formation in the cerebral cortex; mitosis; microtubule organizing center organization and biogenesis; organelle organization and biogenesis; corpus callosum morphogenesis; hippocampus development; transmission of nerve impulse; nuclear envelope disassembly; microtubule cytoskeleton organization and biogenesis; ameboidal cell migration; neuroblast proliferation; cerebral cortex development; mitotic cell cycle; actin cytoskeleton organization and biogenesis; positive regulation of cytokine and chemokine mediated signaling pathway; nuclear migration; lipid catabolic process. Disease: Lissencephaly 1