======= PAFAH1B1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PAFAH1B1
  * **<color #00a2e8>Official Name</color>**: platelet activating factor acetylhydrolase 1b regulatory subunit 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5048|5048]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P43034|P43034]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PAFAH1B1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PAFAH1B1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601545|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769). {ECO:0000250|UniProtKB:P63005, ECO:0000269|PubMed:15173193, ECO:0000269|PubMed:22956769}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|LisH|
|WD40|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|microtubule sliding|
|microtubule cytoskeleton organization involved in establishment of planar polarity|
|cortical microtubule organization|
|astral microtubule|
|central region of growth cone|
|establishment of planar polarity of embryonic epithelium|
|corpus callosum morphogenesis|
|maintenance of centrosome location|
|platelet activating factor metabolic process|
|osteoclast development|
|establishment of centrosome localization|
|regulation of microtubule motor activity|
|dynactin binding|
|layer formation in cerebral cortex|
|maintenance of organelle location|
|membrane disassembly|
|phospholipase binding|
|corpus callosum development|
|nuclear envelope disassembly|
|acrosome assembly|
|microtubule plus-end binding|
|retrograde axonal transport|
|auditory receptor cell development|
|positive regulation of dendritic spine morphogenesis|
|dynein complex binding|
|cerebral cortex radial glia guided migration|
|telencephalon glial cell migration|
|establishment of planar polarity|
|nuclear migration|
|establishment of tissue polarity|
|cerebral cortex neuron differentiation|
|central nervous system projection neuron axonogenesis|
|bone cell development|
|inner ear auditory receptor cell differentiation|
|nucleus localization|
|establishment of mitotic spindle orientation|
|centrosome localization|
|dynein intermediate chain binding|
|cerebral cortex radially oriented cell migration|
|microtubule organizing center localization|
|neuroblast proliferation|
|microtubule associated complex|
|stereocilium|
|establishment of mitotic spindle localization|
|brain morphogenesis|
|stem cell division|
|hair cell differentiation|
|secretory granule organization|
|establishment of spindle orientation|
|phosphoprotein binding|
|central nervous system neuron axonogenesis|
|glial cell migration|
|negative regulation of JNK cascade|
|positive regulation of embryonic development|
|positive regulation of dendrite morphogenesis|
|inner ear receptor cell development|
|cell leading edge|
|morphogenesis of a polarized epithelium|
|establishment of spindle localization|
|positive regulation of dendritic spine development|
|regulation of dendritic spine morphogenesis|
|cerebral cortex cell migration|
|positive regulation of axon extension|
|neuroepithelial cell differentiation|
|osteoclast differentiation|
|vesicle transport along microtubule|
|negative regulation of stress-activated MAPK cascade|
|negative regulation of stress-activated protein kinase signaling cascade|
|cortical cytoskeleton organization|
|spindle localization|
|columnar/cuboidal epithelial cell development|
|vesicle cytoskeletal trafficking|
|positive regulation of cytokine-mediated signaling pathway|
|cochlea development|
|inner ear receptor cell differentiation|
|cytoplasmic microtubule|
|neuromuscular process controlling balance|
|cytoplasmic microtubule organization|
|kinesin complex|
|stem cell proliferation|
|nuclear envelope organization|
|transmission of nerve impulse|
|axonal transport|
|axon cytoplasm|
|mechanoreceptor differentiation|
|positive regulation of response to cytokine stimulus|
|telencephalon cell migration|
|myeloid cell development|
|forebrain cell migration|
|axo-dendritic transport|
|positive regulation of dendrite development|
|regulation of dendritic spine development|
|neural precursor cell proliferation|
|adult locomotory behavior|
|organelle transport along microtubule|
|central nervous system neuron development|
|hippocampus development|
|kinetochore|
|positive regulation of axonogenesis|
|regulation of dendrite morphogenesis|
|microtubule organizing center organization|
|ciliary basal body-plasma membrane docking|
|columnar/cuboidal epithelial cell differentiation|
|maintenance of location in cell|
|regulation of axon extension|
|regulation of postsynapse organization|
|motile cilium|
|cellular component assembly involved in morphogenesis|
|microtubule cytoskeleton organization involved in mitosis|
|neuromuscular process|
|limbic system development|
|regulation of extent of cell growth|
|myeloid leukocyte differentiation|
|cerebral cortex development|
|establishment of cell polarity|
|neuron migration|
|regulation of embryonic development|
|G2/M transition of mitotic cell cycle|
|nucleus organization|
|cell cycle G2/M phase transition|
|multicellular organismal signaling|
|cell cortex|
|adult behavior|
|regulation of dendrite development|
|spermatid development|
|positive regulation of mitotic cell cycle|
|negative regulation of neuron projection development|
|positive regulation of cell morphogenesis involved in differentiation|
|spermatid differentiation|
|transport along microtubule|
|protein secretion|
|establishment of protein localization to extracellular region|
|regulation of cytokine-mediated signaling pathway|
|positive regulation of cell growth|
|maintenance of location|
|protein localization to extracellular region|
|negative regulation of MAPK cascade|
|organelle localization by membrane tethering|
|heparin binding|
|positive regulation of developmental growth|
|ameboidal-type cell migration|
|pallium development|
|peptide secretion|
|establishment of vesicle localization|
|regulation of response to cytokine stimulus|
|cytoskeleton-dependent intracellular transport|
|nuclear envelope|
|membrane docking|
|central nervous system neuron differentiation|
|regulation of cell size|
|negative regulation of cell projection organization|
|microtubule-based transport|
|regulation of axonogenesis|
|vesicle localization|
|regulation of JNK cascade|
|regulation of microtubule cytoskeleton organization|
|epithelial cell development|
|inner ear development|
|ammonium ion metabolic process|
|locomotory behavior|
|regulation of G2/M transition of mitotic cell cycle|
|establishment or maintenance of cell polarity|
|bone development|
|regulation of cell cycle G2/M phase transition|
|gliogenesis|
|regulation of synapse organization|
|myeloid cell differentiation|
|ear development|
|regulation of microtubule-based process|
|negative regulation of neuron differentiation|
|regulation of synapse structure or activity|
|regulation of stress-activated MAPK cascade|
|regulation of stress-activated protein kinase signaling cascade|
|microtubule binding|
|nuclear membrane|
|germ cell development|
|telencephalon development|
|learning or memory|
|positive regulation of growth|
|mitotic cell cycle phase transition|
|microtubule-based movement|
|positive regulation of neuron projection development|
|cell cycle phase transition|
|negative regulation of neurogenesis|
|lipid catabolic process|
|cognition|
|vesicle organization|
|regulation of cell morphogenesis involved in differentiation|
|glycerophospholipid metabolic process|
|negative regulation of nervous system development|
|epidermal cell differentiation|
|neuron projection|
|regulation of developmental growth|
|leukocyte differentiation|
|negative regulation of cell development|
|cilium assembly|
|cellular process involved in reproduction in multicellular organism|
|establishment of organelle localization|
|cilium organization|
|positive regulation of neuron differentiation|
|axonogenesis|
|neuronal cell body|
|phospholipid metabolic process|
|positive regulation of cell cycle|
|regulation of cellular component size|
|glycerolipid metabolic process|
|positive regulation of cell projection organization|
|forebrain development|
|cellular component disassembly|
|negative regulation of protein phosphorylation|
|axon development|
|regulation of mitotic cell cycle phase transition|
|epidermis development|
|regulation of cell growth|
|endomembrane system organization|
|chemical synaptic transmission|
|anterograde trans-synaptic signaling|
|morphogenesis of an epithelium|
|cell morphogenesis involved in neuron differentiation|
|trans-synaptic signaling|
|negative regulation of phosphorylation|
|plasma membrane bounded cell projection assembly|
|regulation of cell cycle phase transition|
|supramolecular fiber organization|
|cell projection assembly|
|synaptic signaling|
|positive regulation of neurogenesis|
|microtubule cytoskeleton organization|
|neuron projection morphogenesis|
|regulation of GTPase activity|
|plasma membrane bounded cell projection morphogenesis|
|regulation of cell morphogenesis|
|cell projection morphogenesis|
|centrosome|
|cell division|
|actin cytoskeleton organization|
|skeletal system development|
|regulation of neuron projection development|
|drug metabolic process|
|negative regulation of intracellular signal transduction|
|regulation of anatomical structure size|
|cell part morphogenesis|
|positive regulation of nervous system development|
|regulation of cytoskeleton organization|
|positive regulation of cell development|
|spermatogenesis|
|sensory organ development|
|cell population proliferation|
|hemopoiesis|
|cell morphogenesis involved in differentiation|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|male gamete generation|
|tissue morphogenesis|
|actin filament-based process|
|behavior|
|organelle localization|
|negative regulation of protein modification process|
|mitotic cell cycle process|
|hematopoietic or lymphoid organ development|
|regulation of mitotic cell cycle|
|immune system development|
|regulation of neuron differentiation|
|neuron projection development|
|developmental process involved in reproduction|
|regulation of growth|
|microtubule-based process|
|epithelial cell differentiation|
|mitotic cell cycle|
|gamete generation|
|regulation of plasma membrane bounded cell projection organization|
|perinuclear region of cytoplasm|
|negative regulation of cellular component organization|
|regulation of cell projection organization|
|negative regulation of cell differentiation|
|cell morphogenesis|
|regulation of cellular response to stress|
|brain development|
|regulation of cell cycle process|
|regulation of MAPK cascade|
|organelle assembly|
|head development|
|neuron development|
|regulation of neurogenesis|
|cellular component morphogenesis|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|membrane organization|
|protein homodimerization activity|
|organophosphate metabolic process|
|anatomical structure formation involved in morphogenesis|
|regulation of nervous system development|
|regulation of cell development|
|negative regulation of developmental process|
|animal organ morphogenesis|
|cellular lipid metabolic process|
|cell migration|
|positive regulation of cell differentiation|
|central nervous system development|
|multi-organism reproductive process|
|cell cycle process|
|secretion by cell|
|neuron differentiation|
|negative regulation of cellular protein metabolic process|
|export from cell|
|regulation of anatomical structure morphogenesis|
|cell motility|
|localization of cell|
|negative regulation of protein metabolic process|
|cytoskeleton organization|
|epithelium development|
|cell-cell signaling|
|secretion|
|plasma membrane bounded cell projection organization|
|cell projection organization|
|regulation of cell cycle|
|negative regulation of multicellular organismal process|
|positive regulation of cellular component organization|
|lipid metabolic process|
|negative regulation of signal transduction|
|regulation of hydrolase activity|
|regulation of organelle organization|
|locomotion|
|cell cycle|
|negative regulation of cell communication|
|negative regulation of signaling|
|positive regulation of developmental process|
|nervous system process|
|reproductive process|
|reproduction|
|regulation of protein phosphorylation|
|regulation of response to stress|
|protein transport|
|intracellular transport|
|generation of neurons|
|peptide transport|
|movement of cell or subcellular component|
|amide transport|
|regulation of phosphorylation|
|establishment of protein localization|
|negative regulation of response to stimulus|
|neurogenesis|
|cell development|
|positive regulation of signal transduction|
|positive regulation of multicellular organismal process|
|tissue development|
|organic substance catabolic process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|establishment of localization in cell|
|regulation of protein modification process|
|nitrogen compound transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp143|Phenformin 20μM R03 exp143]]|-2.59|
|[[:results:exp95|BI-2536 0.0042μM R03 exp95]]|-2.3|
|[[:results:exp135|MS023 7μM R03 exp135]]|-1.94|
|[[:results:exp515|PU-H71 1μM R08 exp515]]|-1.91|
|[[:results:exp108|Vinblastine 0.2μM R03 exp108]]|-1.86|
|[[:results:exp199|Etoposide 0.3μM R05 exp199]]|-1.73|
|[[:results:exp362|GSK-J4 1μM R07 exp362]]|1.7|
|[[:results:exp461|BS-181 20μM R08 exp461]]|1.83|
|[[:results:exp77|Prochlorperazine 5.2μM R02 exp77]]|1.85|
|[[:results:exp355|Dinaciclib 0.007μM R07 exp355]]|1.93|
|[[:results:exp285|GW501516 25μM R06 exp285]]|2.01|
|[[:results:exp519|RS-1 10μM R08 exp519]]|2.05|
|[[:results:exp348|Cyclosporin-A 3μM R07 exp348]]|2.1|
|[[:results:exp165|RO-3306 3 to 4μM on day4 R04 exp165]]|2.1|
|[[:results:exp437|Ethanol 0.003 R08 exp437]]|2.18|
|[[:results:exp410|THZ531 0.11 to 0.125μM on day4 R07 exp410]]|2.18|
|[[:results:exp533|TNF-alpha 44ng/ml R08 exp533]]|2.3|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|2.39|
|[[:results:exp180|Dynasore 10μM R04 exp180]]|2.42|
|[[:results:exp228|Demecolcine 0.03μM R05 exp228]]|2.43|
|[[:results:exp301|VER-155008 3.9μM R06 exp301]]|2.49|
|[[:results:exp464|Calcipotriol 5μM R08 exp464]]|2.58|
|[[:results:exp60|Vinblastine 0.002μM R01 exp60]]|2.64|
|[[:results:exp244|SB743921 0.001μM R05 exp244]]|5.04|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.435|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 739/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|1/1|
|bile duct|28/28|
|blood|28/28|
|bone|26/26|
|breast|33/33|
|central nervous system|56/56|
|cervix|4/4|
|colorectal|17/17|
|esophagus|13/13|
|fibroblast|1/1|
|gastric|16/16|
|kidney|21/21|
|liver|20/20|
|lung|75/75|
|lymphocyte|16/16|
|ovary|26/26|
|pancreas|24/24|
|peripheral nervous system|16/16|
|plasma cell|15/15|
|prostate|1/1|
|skin|24/24|
|soft tissue|9/9|
|thyroid|2/2|
|upper aerodigestive|22/22|
|urinary tract|29/29|
|uterus|5/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 125
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.54 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PAFAH1B1 Expression in NALM6 Cells: 7.54'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>