PAFAH1B1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PAFAH1B1 |
| Official Name | platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Source:HGNC Symbol;Acc:HGNC:8574] |
| Ensembl ID | ENSG00000007168 |
| Bio databases IDs | |
| Aliases | platelet activating factor acetylhydrolase 1b regulatory subunit 1, lissencephaly-1 |
| Synonyms | LIS-1, LIS2, LOC100046589, MDCR, MDS, Mdsh, MMS10-U, Ms10u, NudF, PAFAH, Pafaha, PAFAH alpha, PAF-AH isoform 1 β subunit, PAFAH α, platelet activating factor acetylhydrolase 1b regulatory subunit 1, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1, Platelet-Activating Factor Acetylhydrolase IB, Beta Subunit, Platelet-Activating Factor Acetylhydrolase IB, β Subunit, platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PAFAH1B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphoprotein binding
- WD domain, G-beta repeat
- enzyme binding
- coiled-coil domain
- WD40
- enzyme
- protein binding
- identical protein binding
- WD-like repeat
- microtubule binding
- 1-alkyl-2-acetylglycerophosphocholine esterase
- binding protein
- WD40 repeats
- cytoskeletal protein binding
- dynein intermediate chain binding
- LisH
- heparin binding
- platelet-activating factor acetyltransferase
- protein heterodimerization
Pathways
Biological processes and signaling networks where the PAFAH1B1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- tumorigenesis
- hyperplasia
- schizophrenia
- lissencephaly
- mental retardation
- major depression
- hydrocephalus
- subcortical laminar heterotopia
- insomnia
role in cell
- apoptosis
- formation
- expression in
- cell death
- proliferation
- quantity
- function
- differentiation
- number
- adhesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- postsynaptic density (PSD) fractions
- insoluble fractions
- motile cilia
- glutaminergic synapse
- microtubule cytoskeleton
- transition region of growth cone
- perinuclear region
- manchette
- cell cortex
- vesicles
- centrosome
- microtubules
- microtubule tips
- microtubule organizing centers
- cytosol
- stereocilia
- spindle pole
- nuclear envelope
- axon hillock
- growth cone
- neurites
- synapse
- astral microtubules
- plus end of microtubule
- cell membrane leading edge
- meiotic spindles
- kinetochores
- perikaryon
- axons
- dendrites
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PAFAH1B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nuclear migration
- microtubule cytoskeleton organization involved in establishment of planar polarity
- adult locomotory behavior
- JNK cascade
- cortical microtubule organization
- microtubule-based process
- learning or memory
- neuroblast proliferation
- ameboidal cell migration
- negative regulation of neuron projection development
- stem cell division
- reelin-mediated signaling pathway
- positive regulation of dendritic spine morphogenesis
- cochlea development
- synaptic transmission
- platelet activating factor metabolic process
- positive regulation of axon extension
- cerebral cortex development
- microtubule cytoskeleton organization
- corpus callosum morphogenesis
- positive regulation of mitotic cell cycle
- auditory receptor cell development
- acrosome assembly
- microtubule sliding
- lipid catabolic process
- regulation of synaptic transmission
- microtubule organizing center organization
- neuromuscular process controlling balance
- osteoclast development
- layer formation in cerebral cortex
- regulation of microtubule cytoskeleton organization
- brain morphogenesis
- positive regulation of embryonic development
- cerebral cortex neuron differentiation
- positive regulation of cytokine-mediated signaling pathway
- neuron migration
- establishment of centrosome localization
- maintenance of centrosome location
- vesicle transport along microtubule
- transmission of nerve impulse
- germ cell development
- hippocampus development
- negative regulation of JNK cascade
- protein secretion
- nuclear envelope disassembly
- establishment of planar polarity of embryonic epithelium
- establishment of mitotic spindle orientation
- actin cytoskeleton organization
- retrograde axon cargo transport
Cellular Component
Where in the cell the gene product is active
- cell leading edge
- 1-alkyl-2-acetylglycerophosphocholine esterase complex
- kinesin complex
- kinetochore
- neuronal cell body
- cytoplasmic microtubule
- astral microtubule
- neuron projection
- microtubule associated complex
- nuclear envelope
- motile cilium
- nuclear membrane
- centrosome
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- cell cortex
- cytosol
- stereocilium
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- dynactin binding
- protein heterodimerization activity
- microtubule plus-end binding
- phospholipase binding
- phosphoprotein binding
- heparin binding
- dynein complex binding
- dynein intermediate chain binding
- microtubule binding