PAFAH1B1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

PAFAH1B1

Aliases

LIS1, LIS2, MDCR, MDS, NudF, PAFAH

Entrez Gene ID

5048

Gene Name

Platelet activating factor acetylhydrolase 1b regulatory subunit 1

Chromosomal Location

17p13.3

HGNC ID

HGNC:8574

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]

RefSeq DNA

NG_009799.1

RefSeq mRNA

NM_000430.4

e!Ensembl

Gene	ENSG00000007168
Transcript	ENST00000576586, ENST00000397195, ENST00000570400, ENST00000574468
Protein	ENSP00000461087, ENSP00000380378, ENSP00000460258, ENSP00000460591

Gene Ontology (GO)

Show/Hide all(47 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000132	Biological process	Establishment of mitotic spindle orientation	IBA	21873635
GO:0000132	Biological process	Establishment of mitotic spindle orientation	IMP	11056532
GO:0000226	Biological process	Microtubule cytoskeleton organization	ISS	10729324
GO:0001764	Biological process	Neuron migration	IMP	11163258
GO:0001764	Biological process	Neuron migration	ISS	10729324
GO:0007017	Biological process	Microtubule-based process	IDA	11940666
GO:0007097	Biological process	Nuclear migration	IBA	21873635
GO:0007268	Biological process	Chemical synaptic transmission	ISS	10729324
GO:0007405	Biological process	Neuroblast proliferation	ISS	10729324
GO:0008090	Biological process	Retrograde axonal transport	IBA	21873635
GO:0008090	Biological process	Retrograde axonal transport	ISS	10729324
GO:0008344	Biological process	Adult locomotory behavior	IMP	9063735
GO:0019226	Biological process	Transmission of nerve impulse	ISS	10729324
GO:0021540	Biological process	Corpus callosum morphogenesis	IMP	9063735
GO:0021987	Biological process	Cerebral cortex development	IMP	9063735
GO:0030036	Biological process	Actin cytoskeleton organization	ISS	10729324
GO:0031023	Biological process	Microtubule organizing center organization	IBA	21873635
GO:0031023	Biological process	Microtubule organizing center organization	IMP	11163258
GO:0046469	Biological process	Platelet activating factor metabolic process	ISS	8028668
GO:0047496	Biological process	Vesicle transport along microtubule	IBA	21873635
GO:0047496	Biological process	Vesicle transport along microtubule	ISS	10729324
GO:0048854	Biological process	Brain morphogenesis	IBA	21873635
GO:0048854	Biological process	Brain morphogenesis	IMP	9063735
GO:0050885	Biological process	Neuromuscular process controlling balance	IMP	9063735
GO:2000574	Biological process	Regulation of microtubule motor activity	IBA	21873635
GO:0000235	Cellular component	Astral microtubule	IDA	11940666
GO:0000776	Cellular component	Kinetochore	IBA	21873635
GO:0000776	Cellular component	Kinetochore	IDA	11056532, 11889140, 11940666
GO:0005635	Cellular component	Nuclear envelope	IBA	21873635
GO:0005635	Cellular component	Nuclear envelope	IDA	11940666
GO:0005813	Cellular component	Centrosome	IDA	21399614
GO:0005829	Cellular component	Cytosol	ISS	8028668
GO:0005875	Cellular component	Microtubule associated complex	IBA	21873635
GO:0005875	Cellular component	Microtubule associated complex	IDA	11889140
GO:0005881	Cellular component	Cytoplasmic microtubule	IBA	21873635
GO:0005938	Cellular component	Cell cortex	IDA	11940666
GO:0043005	Cellular component	Neuron projection	IBA	21873635
GO:0043025	Cellular component	Neuronal cell body	IBA	21873635
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867
GO:0005515	Molecular function	Protein binding	IPI	10931877, 11163258, 11940666, 16754861, 20133715, 20360068, 22159412, 27173435
GO:0008017	Molecular function	Microtubule binding	ISS	10729324
GO:0008201	Molecular function	Heparin binding	ISS	8028668
GO:0034452	Molecular function	Dynactin binding	ISS	11056532
GO:0043274	Molecular function	Phospholipase binding	ISS	8028668
GO:0051010	Molecular function	Microtubule plus-end binding	IBA	21873635
GO:0070840	Molecular function	Dynein complex binding	IBA	21873635
GO:0070840	Molecular function	Dynein complex binding	IDA	11889140

Protein Information

Protein Name

Platelet-activating factor acetylhydrolase IB subunit alpha, lissencephaly 1 protein, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa), platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD), platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)

Function

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).

Refseq Proteins

NP_000421.1

UniProt

P43034

Pfam

Pfam Accession	Pfam ID
PF08513	LisH
PF00400	WD40