User:Julialturner/PAFAH1B1

PAFAH1B1
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	1UUJ, 1VYH
Identifiers
Aliases	PAFAH1B1, LIS1, LIS2, MDCR, MDS, PAFAH, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa), NudF, platelet activating factor acetylhydrolase 1b regulatory subunit 1
External IDs	OMIM: 601545 HomoloGene: 371 GeneCards: PAFAH1B1
Genetically Related Diseases
	lissencephaly due to LIS1 mutation
Gene ontology
Molecular function	• heparin binding; • phospholipase binding; • dynactin binding; • GO:0032403 protein-containing complex binding; • protein homodimerization activity; • GO:0001948, GO:0016582 protein binding; • dynein intermediate chain binding; • microtubule binding; • phosphoprotein binding; • phospholipase A2 activity; • dynein complex binding; • microtubule plus-end binding;
Cellular component	• cytoplasm; • cytosol; • nuclear membrane; • nuclear envelope; • membrane; • microtubule organizing center; • perinuclear region of cytoplasm; • neuron projection; • microtubule; • cytoskeleton; • nucleus; • kinetochore; • centrosome; • astral microtubule; • microtubule associated complex; • extracellular exosome; • kinesin complex; • microtubule cytoskeleton; • growth cone; • spindle; • axon; • neuronal cell body; • cell cortex; • vesicle; • cell leading edge; • axon cytoplasm; • motile cilium; • stereocilium; • central region of growth cone; • cytoplasmic microtubule;
Biological process	• germ cell development; • positive regulation of cytokine-mediated signaling pathway; • neuromuscular process controlling balance; • nuclear migration; • microtubule cytoskeleton organization involved in establishment of planar polarity; • G2/M transition of mitotic cell cycle; • stem cell division; • acrosome assembly; • cell cycle; • osteoclast development; • positive regulation of embryonic development; • microtubule organizing center organization; • cochlea development; • platelet activating factor metabolic process; • GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 regulation of GTPase activity; • adult locomotory behavior; • transmission of nerve impulse; • regulation of microtubule cytoskeleton organization; • positive regulation of cellular component organization; • positive regulation of mitotic cell cycle; • protein secretion; • cortical microtubule organization; • learning or memory; • neuroblast proliferation; • positive regulation of axon extension; • auditory receptor cell development; • brain morphogenesis; • chemical synaptic transmission; • retrograde axonal transport; • cell differentiation; • negative regulation of neuron projection development; • neuron migration; • nervous system development; • cerebral cortex development; • establishment of centrosome localization; • ameboidal-type cell migration; • positive regulation of dendritic spine morphogenesis; • microtubule cytoskeleton organization; • actin cytoskeleton organization; • vesicle transport along microtubule; • lipid metabolism; • establishment of planar polarity of embryonic epithelium; • cell division; • multicellular organism development; • lipid catabolic process; • negative regulation of JNK cascade; • brain development; • layer formation in cerebral cortex; • nuclear membrane disassembly; • cerebral cortex neuron differentiation; • corpus callosum morphogenesis; • hippocampus development; • cell migration; • sister chromatid cohesion; • establishment of mitotic spindle orientation; • microtubule-based process; • maintenance of centrosome location; • ciliary basal body-plasma membrane docking; • regulation of G2/M transition of mitotic cell cycle; • GO:0015915 transport; • microtubule sliding;
	Sources:Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
	5048
	n/a
	ENSG00000007168
	n/a
	P43034
	n/a
	NM_000430
	n/a
	NP_000421
	n/a
	Wikidata
View/Edit Human

Example with long list of GO terms

[1] "Diseases that are genetically associated with PAFAH1B1 view/edit references on wikidata".

[2] "Human PubMed Reference:".

[1]

[2]