InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PAFAH1B1

Summary

InnateDB Gene

IDBG-16417.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PAFAH1B1

Gene Name

platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)

Synonyms

LIS1; LIS2; MDCR; MDS; PAFAH

Species

Homo sapiens

Ensembl Gene

ENSG00000007168

Encoded Proteins

IDBP-235897

platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)

IDBP-759420

IDBP-764774

IDBP-758124

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:2593210-2685615

Strand

Forward strand

Band

p13.3

Transcripts

ENST00000397195	ENSP00000380378
ENST00000397193
ENST00000574816
ENST00000574213
ENST00000570400	ENSP00000460258
ENST00000574468	ENSP00000460591
ENST00000575477
ENST00000571289
ENST00000572915
ENST00000571495
ENST00000576586	ENSP00000461087
ENST00000609078
ENST00000610190

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 75 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	75 [view]
Protein-Protein	75 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008017	microtubule binding
GO:0008201	heparin binding
GO:0016787	hydrolase activity
GO:0032403	protein complex binding
GO:0034452	dynactin binding
GO:0042803	protein homodimerization activity
GO:0043274	phospholipase binding
GO:0045502	dynein binding
GO:0045505	dynein intermediate chain binding
GO:0051219	phosphoprotein binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000132	establishment of mitotic spindle orientation
GO:0000226	microtubule cytoskeleton organization
GO:0000278	mitotic cell cycle
GO:0001667	ameboidal cell migration
GO:0001675	acrosome assembly
GO:0001764	neuron migration
GO:0001961	positive regulation of cytokine-mediated signaling pathway
GO:0007017	microtubule-based process
GO:0007067	mitotic nuclear division
GO:0007097	nuclear migration
GO:0007268	synaptic transmission
GO:0007405	neuroblast proliferation
GO:0007420	brain development
GO:0007611	learning or memory
GO:0008090	retrograde axon cargo transport
GO:0008152	metabolic process
GO:0008344	adult locomotory behavior
GO:0009306	protein secretion
GO:0010977	negative regulation of neuron projection development
GO:0016042	lipid catabolic process
GO:0016477	cell migration
GO:0017145	stem cell division
GO:0019226	transmission of nerve impulse
GO:0021540	corpus callosum morphogenesis
GO:0021766	hippocampus development
GO:0021819	layer formation in cerebral cortex
GO:0021895	cerebral cortex neuron differentiation
GO:0021987	cerebral cortex development
GO:0030036	actin cytoskeleton organization
GO:0031023	microtubule organizing center organization
GO:0032319	regulation of Rho GTPase activity
GO:0036035	osteoclast development
GO:0045773	positive regulation of axon extension
GO:0045931	positive regulation of mitotic cell cycle
GO:0046329	negative regulation of JNK cascade
GO:0046469	platelet activating factor metabolic process
GO:0047496	vesicle transport along microtubule
GO:0048854	brain morphogenesis
GO:0050885	neuromuscular process controlling balance
GO:0051081	nuclear envelope disassembly
GO:0051660	establishment of centrosome localization

Cellular Component

GO:0000235	astral microtubule
GO:0000776	kinetochore
GO:0005635	nuclear envelope
GO:0005737	cytoplasm
GO:0005813	centrosome
GO:0005829	cytosol
GO:0005871	kinesin complex
GO:0005875	microtubule associated complex
GO:0005938	cell cortex
GO:0015630	microtubule cytoskeleton
GO:0030424	axon
GO:0030426	growth cone
GO:0031252	cell leading edge
GO:0031512	motile primary cilium
GO:0031965	nuclear membrane
GO:0031982	vesicle
GO:0043005	neuron projection
GO:0043025	neuronal cell body
GO:0048471	perinuclear region of cytoplasm
GO:0070062	extracellular vesicular exosome