Gene/Proteome Database (LMPD)

LMPD ID
LMP001247
Gene ID
5048
Species
Homo sapiens (Human)
Gene Name
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Gene Symbol
PAFAH1B1
Synonyms
LIS1; LIS2; MDCR; MDS; PAFAH
Alternate Names
platelet-activating factor acetylhydrolase IB subunit alpha; PAFAH1B1; lissencephaly 1 protein; platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa); platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)
Chromosome
17
Map Location
17p13.3
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]
Orthologs
View orthologs and multiple alignments for PAFAH1B1

Proteins

platelet-activating factor acetylhydrolase IB subunit alpha
Refseq ID NP_000421
Protein GI 4557741
UniProt ID P43034
mRNA ID NM_000430
Length 410
RefSeq Status REVIEWED
MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQTGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETKKSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSVDQTVKVWECR

Gene Information

Entrez Gene ID
5048
Gene Name
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Gene Symbol
PAFAH1B1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0000235 IDA:UniProtKB C astral microtubule
GO:0005938 IDA:UniProtKB C cell cortex
GO:0031252 IEA:Ensembl C cell leading edge
GO:0005813 IDA:UniProtKB C centrosome
GO:0005829 ISS:BHF-UCL C cytosol
GO:0070062 IDA:UniProt C extracellular vesicular exosome
GO:0030426 IEA:Ensembl C growth cone
GO:0005871 IEA:Ensembl C kinesin complex
GO:0000776 IDA:UniProtKB C kinetochore
GO:0016020 IEA:UniProtKB-KW C membrane
GO:0005875 IDA:UniProtKB C microtubule associated complex
GO:0031512 ISS:BHF-UCL C motile primary cilium
GO:0043025 IEA:Ensembl C neuronal cell body
GO:0005635 IDA:UniProtKB C nuclear envelope
GO:0048471 ISS:BHF-UCL C perinuclear region of cytoplasm
GO:0034452 ISS:BHF-UCL F dynactin binding
GO:0045502 IDA:UniProtKB F dynein binding
GO:0008201 ISS:BHF-UCL F heparin binding
GO:0008017 ISS:BHF-UCL F microtubule binding
GO:0043274 ISS:BHF-UCL F phospholipase binding
GO:0051219 ISS:BHF-UCL F phosphoprotein binding
GO:0042803 ISS:BHF-UCL F protein homodimerization activity
GO:0000086 TAS:Reactome P G2/M transition of mitotic cell cycle
GO:0001675 ISS:BHF-UCL P acrosome assembly
GO:0030036 ISS:BHF-UCL P actin cytoskeleton organization
GO:0008344 IMP:BHF-UCL P adult locomotory behavior
GO:0001667 IEA:Ensembl P ameboidal cell migration
GO:0048854 IMP:BHF-UCL P brain morphogenesis
GO:0021987 IMP:BHF-UCL P cerebral cortex development
GO:0021895 IEA:Ensembl P cerebral cortex neuron differentiation
GO:0021540 IMP:BHF-UCL P corpus callosum morphogenesis
GO:0051660 IEA:Ensembl P establishment of centrosome localization
GO:0000132 IMP:UniProtKB P establishment of mitotic spindle orientation
GO:0021766 ISS:BHF-UCL P hippocampus development
GO:0021819 ISS:BHF-UCL P layer formation in cerebral cortex
GO:0007611 ISS:BHF-UCL P learning or memory
GO:0016042 IEA:UniProtKB-KW P lipid catabolic process
GO:0000226 ISS:BHF-UCL P microtubule cytoskeleton organization
GO:0031023 IMP:UniProtKB P microtubule organizing center organization
GO:0007017 IDA:UniProtKB P microtubule-based process
GO:0000278 TAS:Reactome P mitotic cell cycle
GO:0007067 IEA:UniProtKB-KW P mitotic nuclear division
GO:0046329 IEA:Ensembl P negative regulation of JNK cascade
GO:0010977 IEA:Ensembl P negative regulation of neuron projection development
GO:0007405 ISS:BHF-UCL P neuroblast proliferation
GO:0050885 IMP:BHF-UCL P neuromuscular process controlling balance
GO:0001764 IMP:UniProtKB P neuron migration
GO:0051081 IEA:Ensembl P nuclear envelope disassembly
GO:0007097 IEA:Ensembl P nuclear migration
GO:0036035 IEA:Ensembl P osteoclast development
GO:0046469 ISS:BHF-UCL P platelet activating factor metabolic process
GO:0045773 IEA:Ensembl P positive regulation of axon extension
GO:0001961 IEA:Ensembl P positive regulation of cytokine-mediated signaling pathway
GO:0045931 IEA:Ensembl P positive regulation of mitotic cell cycle
GO:0009306 IEA:Ensembl P protein secretion
GO:0032319 ISS:BHF-UCL P regulation of Rho GTPase activity
GO:0008090 ISS:BHF-UCL P retrograde axon cargo transport
GO:0017145 IEA:Ensembl P stem cell division
GO:0007268 ISS:BHF-UCL P synaptic transmission
GO:0019226 ISS:BHF-UCL P transmission of nerve impulse
GO:0047496 ISS:BHF-UCL P vesicle transport along microtubule

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_160315 Regulation of PLK1 Activity at G2/M Transition
REACT_150471 Separation of Sister Chromatids

Domain Information

InterPro Annotations

Accession Description
IPR017252 Dynein_regulator_LIS1
IPR020472 G-protein beta WD-40 repeat
IPR006594 LisH dimerisation motif
IPR013720 LisH dimerisation motif, subgroup
IPR019775 WD40 repeat, conserved site
IPR017986 WD40-repeat-containing domain
IPR015943 WD40/YVTN repeat-like-containing domain
IPR001680 WD40_repeat

UniProt Annotations

Entry Information

Gene Name
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Protein Entry
LIS1_HUMAN
UniProt ID
P43034
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43034-1; Sequence=Displayed; Name=2; IsoId=P43034-2; Sequence=VSP_019376, VSP_019377, VSP_019378, VSP_019379; Note=No experimental confirmation available.;
Disease Lissencephaly 1 (LIS1) [MIM
Disease Miller-Dieker lissencephaly syndrome (MDLS) [MIM
Disease Subcortical band heterotopia (SBH) [MIM
Domain Dimerization mediated by the LisH domain may be required to activate dynein. {ECO
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. {ECO
Interaction Q9CZA6:Nde1 (xeno); NbExp=6; IntAct=EBI-720620, EBI-309934;
Sequence Caution Sequence=AAA02882.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO
Similarity Belongs to the WD repeat LIS1/nudF family. {ECO
Similarity Contains 1 LisH domain. {ECO
Similarity Contains 7 WD repeats. {ECO
Subcellular Location Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle {ECO
Subunit Component of cytosolic PAF-AH IB, which is composed of PAFAH1B1 (alpha), PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Trimer formation is not essential for the catalytic activity of the enzyme which is contributed solely by the PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Interacts with IQGAP1, KATNB1 and NUDC. Interacts with DAB1 when DAB1 is phosphorylated in response to RELN/reelin signaling (By similarity). Can self-associate. Interacts with DCX, dynein, dynactin, NDE1, NDEL1 and RSN. Interacts with DISC1, and this interaction is enhanced by NDEL1. Interacts with ASUN. {ECO
Tissue Specificity Fairly ubiquitous expression in both the frontal and occipital areas of the brain.

Identical and Related Proteins

Unique RefSeq proteins for LMP001247 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
4557741 RefSeq NP_000421 410 platelet-activating factor acetylhydrolase IB subunit alpha

Identical Sequences to LMP001247 proteins

Reference Database Accession Length Protein Name
GI:4557741 DBBJ BAG35904.1 410 unnamed protein product [Homo sapiens]
GI:4557741 DBBJ BAG72688.1 410 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa, partial [synthetic construct]
GI:4557741 GenBank AAK92483.1 410 platelet-activating factor acetyl hydrolase isoform Ib alpha subunit [Homo sapiens]
GI:4557741 GenBank AAH64638.1 410 Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa [Homo sapiens]
GI:4557741 GenBank EAW90536.1 410 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa [Homo sapiens]
GI:4557741 GenBank AIC49334.1 410 PAFAH1B1, partial [synthetic construct]

Related Sequences to LMP001247 proteins

Reference Database Accession Length Protein Name
GI:4557741 DBBJ BAE27764.1 410 unnamed protein product [Mus musculus]
GI:4557741 RefSeq XP_854482.1 410 PREDICTED: platelet-activating factor acetylhydrolase IB subunit alpha isoformX2 [Canis lupus familiaris]
GI:4557741 RefSeq XP_003799123.1 410 PREDICTED: platelet-activating factor acetylhydrolase IB subunit alpha [Otolemur garnettii]
GI:4557741 RefSeq XP_005693383.1 410 PREDICTED: platelet-activating factor acetylhydrolase IB subunit alpha [Capra hircus]
GI:4557741 RefSeq XP_005891252.1 410 PREDICTED: platelet-activating factor acetylhydrolase IB subunit alpha isoform X1 [Bos mutus]
GI:4557741 RefSeq XP_005891253.1 410 PREDICTED: platelet-activating factor acetylhydrolase IB subunit alpha isoform X2 [Bos mutus]