Entity Details

Primary name PAFAH1B1
Entity type gene
Source Source Link

Details

PrimaryID5048
RefseqGeneNG_009799
SymbolPAFAH1B1
Nameplatelet activating factor acetylhydrolase 1b regulatory subunit 1
Chromosome17
Location17p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-11-04
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLIS1_HUMAN

GO terms

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GOName
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000132 establishment of mitotic spindle orientation
GO:0000226 microtubule cytoskeleton organization
GO:0000235 astral microtubule
GO:0000776 kinetochore
GO:0001675 acrosome assembly
GO:0001764 neuron migration
GO:0005635 nuclear envelope
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005875 microtubule associated complex
GO:0005881 cytoplasmic microtubule
GO:0005938 cell cortex
GO:0007017 microtubule-based process
GO:0007052 mitotic spindle organization
GO:0007097 nuclear migration
GO:0007268 chemical synaptic transmission
GO:0007281 germ cell development
GO:0007405 neuroblast proliferation
GO:0007611 learning or memory
GO:0008017 microtubule binding
GO:0008090 retrograde axonal transport
GO:0008201 heparin binding
GO:0008247 1-alkyl-2-acetylglycerophosphocholine esterase complex
GO:0008344 adult locomotory behavior
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0016042 lipid catabolic process
GO:0019226 transmission of nerve impulse
GO:0021540 corpus callosum morphogenesis
GO:0021766 hippocampus development
GO:0021819 layer formation in cerebral cortex
GO:0021987 cerebral cortex development
GO:0030036 actin cytoskeleton organization
GO:0031023 microtubule organizing center organization
GO:0031514 motile cilium
GO:0031965 nuclear membrane
GO:0034452 dynactin binding
GO:0038026 reelin-mediated signaling pathway
GO:0042802 identical protein binding
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043274 phospholipase binding
GO:0045202 synapse
GO:0046469 platelet activating factor metabolic process
GO:0046982 protein heterodimerization activity
GO:0047496 vesicle transport along microtubule
GO:0048471 perinuclear region of cytoplasm
GO:0048854 brain morphogenesis
GO:0050885 neuromuscular process controlling balance
GO:0051010 microtubule plus-end binding
GO:0051012 microtubule sliding
GO:0051219 phosphoprotein binding
GO:0051301 cell division
GO:0070062 extracellular exosome
GO:0070840 dynein complex binding
GO:0097711 ciliary basal body-plasma membrane docking
GO:1904115 axon cytoplasm
GO:2000574 obsolete regulation of microtubule motor activity

Diseases

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Disease IDSourceNameDescription
607432 OMIMLissencephaly 1 (LIS1)A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry.
607432 OMIMLissencephaly 1 (LIS1)A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry.
247200 OMIMMiller-Dieker lissencephaly syndrome (MDLS)A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition. The disease is caused by variants affecting the gene represented in this entry.

Interactions

113 interactions

InteractorPartnerSourcesPublicationsLink
PAFAH1B1KARS1BioGRID, HPRD, IntAct16169070 details
PAFAH1B1NDEL1BioGRID, HPRD, IntAct, UniProt10931877 11163260 12796778 12885786 14970193 19622634 27173435 28514442 31815665 unassigned1312 details
PAFAH1B1DISC1BioGRID, IntAct, MINT17043677 29961565 31413325 details
PAFAH1B1DYNC1H1BioGRID, IntAct11889140 12885786 18784752 19622634 26344197 26496610 27173435 34079125 unassigned1312 details
PAFAH1B1NDE1BioGRID, HPRD, IntAct10931877 11163258 12885786 27173435 34079125 unassigned1312 details
PAFAH1B1PAFAH1B2BioGRID, HPRD, IntAct10727864 12885786 19622634 27173435 unassigned1312 details
PAFAH1B1PAFAH1B3BioGRID, HPRD, IntAct10727864 19622634 26186194 28514442 details
PAFAH1B1NUDCD3BioGRID, DIP16754861 details
PAFAH1B1HSP90AA1BioGRID, DIP20133715 20675372 details
PAFAH1B1TNIKBioGRID, IntAct17043677 31413325 details
PAFAH1B1CSNK2A1BioGRID, HPRD10491172 details
PAFAH1B1NUDCBioGRID, HPRD11734602 12885786 20675372 34079125 9601647 details
PAFAH1B1TUBA1ABioGRID, HPRD9384577 details
PAFAH1B1PAFAH1B1BioGRID, HPRD11889140 12885786 16258276 details
PAFAH1B1DCTN2BioGRID11889140 details
PAFAH1B1DCXBioGRID, HPRD11001923 12885786 details
PAFAH1B1CLIP1BioGRID, HPRD11940666 12885786 34079125 details
PAFAH1B1KATNA1BioGRID16203747 details
PAFAH1B1KATNB1BioGRID16203747 details
PAFAH1B1PDE4DBioGRID21652625 details
PAFAH1B1FBXO7BioGRID27503909 details
PAFAH1B1CENPFIntAct17600710 details
PAFAH1B1DCTN1BioGRID, HPRD, IntAct11056532 11889140 14584027 26638075 27173435 unassigned1312 details
PAFAH1B1DYNLT1BioGRID, IntAct27173435 unassigned1312 details
PAFAH1B1DYNLRB2BioGRID, IntAct27173435 unassigned1312 details
PAFAH1B1GID8BioGRID, IntAct27173435 unassigned1312 details
PAFAH1B1MAPRE1BioGRID, IntAct22863883 27173435 unassigned1312 details
PAFAH1B1DYNC1I2BioGRID, IntAct27173435 34079125 unassigned1312 details
PAFAH1B1DYNC1LI1BioGRID, IntAct27173435 34079125 unassigned1312 details
PAFAH1B1DYNLT3BioGRID, IntAct27173435 unassigned1312 details
PAFAH1B1MAPRE2BioGRID, IntAct27173435 unassigned1312 details
PAFAH1B1AHI1BioGRID, IntAct27173435 unassigned1312 details
PAFAH1B1DYNLT2BBioGRID, IntAct27173435 unassigned1312 details
PAFAH1B1NUDCD2BioGRID, DIP20133715 details
PAFAH1B1WDR5BioGRID17041588 details
PAFAH1B1DYNLL1BioGRID11056532 details
PAFAH1B1DYNC1I1BioGRID18784752 19622634 21652625 details
PAFAH1B1PDE4BBioGRID21652625 details
PAFAH1B1BICD2BioGRID22956769 details
PAFAH1B1DCDC1BioGRID22159412 details
PAFAH1B1DAB1HPRD14578885 details
PAFAH1B1DNAI1HPRD11889140 details
PAFAH1B1HSPH1HPRD14733918 details
PAFAH1B1MAP1BHPRD15762842 details
PAFAH1B1IQCB1BioGRID, IntAct21565611 details
PAFAH1B1CEP135BioGRID, IntAct26638075 details
PAFAH1B1CEP128BioGRID, IntAct26638075 details
PAFAH1B1HSPA8IntAct25910212 details
PAFAH1B1HSP90AB1IntAct25910212 details
PAFAH1B1BET1BioGRID, IntAct29568061 details
PAFAH1B1TANKBioGRID, IntAct30561431 details
PAFAH1B1LRRK2IntAct31046837 details
PAFAH1B1ENGBioGRID, UniProt31540324 details
PAFAH1B1CIAO1BioGRID, MINT24981860 details
PAFAH1B1ZDHHC5UniProt31402609 details
PAFAH1B1ISG15BioGRID16009940 details
PAFAH1B1CDK2BioGRID21319273 details
PAFAH1B1ASNSBioGRID22863883 26344197 details
PAFAH1B1HMGB3BioGRID22863883 details
PAFAH1B1ATICBioGRID22863883 details
PAFAH1B1CAPN2BioGRID22863883 details
PAFAH1B1CAPNS1BioGRID22863883 details
PAFAH1B1EIF5BioGRID22863883 details
PAFAH1B1FHBioGRID22863883 details
PAFAH1B1ISOC1BioGRID22863883 details
PAFAH1B1MSNBioGRID22863883 details
PAFAH1B1MYO1EBioGRID22863883 details
PAFAH1B1PAPSS1BioGRID22863883 details
PAFAH1B1PDIA4BioGRID22863883 details
PAFAH1B1SNRPD2BioGRID22863883 details
PAFAH1B1TATDN1BioGRID22863883 details
PAFAH1B1UBXN1BioGRID22863883 details
PAFAH1B1YWHAGBioGRID22863883 details
PAFAH1B1YWHAHBioGRID22863883 details
PAFAH1B1PAK2BioGRID22863883 details
PAFAH1B1SNRPFBioGRID22863883 details
PAFAH1B1AP1G1BioGRID26344197 details
PAFAH1B1CHID1BioGRID26344197 details
PAFAH1B1CHMP2BBioGRID26344197 details
PAFAH1B1CSTF1BioGRID26344197 details
PAFAH1B1SBDSBioGRID26344197 details
PAFAH1B1SCLYBioGRID26344197 details
PAFAH1B1NTRK1BioGRID25921289 details
PAFAH1B1ARMC8BioGRID29911972 details
PAFAH1B1RNF4BioGRID29180619 details
PAFAH1B1STUB1BioGRID29511337 details
PAFAH1B1MYCBioGRID29467282 details
PAFAH1B1TRIM28BioGRID29955894 details
PAFAH1B1SQSTM1BioGRID30581152 details
PAFAH1B1PLEKHA4BioGRID31091453 details
PAFAH1B1NHLRC2BioGRID30397336 details
PAFAH1B1NINLBioGRID26485645 details
PAFAH1B1CUL4ABioGRID32235678 details
PAFAH1B1CDK1BioGRID24981860 details
PAFAH1B1ACAA2BioGRID24981860 details
PAFAH1B1CIAO2BBioGRID24981860 details
PAFAH1B1CIAO2ABioGRID24981860 details
PAFAH1B1UQCRFS1BioGRID24981860 details
PAFAH1B1CCND1BioGRID33854235 details
PAFAH1B1ANKRD28BioGRID34079125 details
PAFAH1B1AP4E1BioGRID34079125 details
PAFAH1B1CCSER2BioGRID34079125 details
PAFAH1B1CENPEBioGRID34079125 details
PAFAH1B1CPSF3BioGRID34079125 details
PAFAH1B1DCTN4BioGRID34079125 details
PAFAH1B1PSMC5BioGRID34079125 details
PAFAH1B1DLG5BioGRID34079125 details
PAFAH1B1KIF1BBioGRID34079125 details
PAFAH1B1PCNTBioGRID34079125 details
PAFAH1B1PSMC4BioGRID34079125 details
PAFAH1B1ENTR1BioGRID34079125 details
PAFAH1B1TSR1BioGRID34079125 details
PAFAH1B1TRIM25BioGRID29117863 details