AutismKB 2.0

Annotation Details for PAFAH1B1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PAFAH1B1 ( LIS1,LIS2,MDCR,MDS,PAFAH )
Gene Full Name: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Band: 17p13.3
Quick LinksEntrez ID:5048; OMIM: 601545; Uniprot ID:LIS1_HUMAN; ENSEMBL ID: ENSG00000007168; HGNC ID: 8574
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000235IDA-astral microtubule11940666
GO:0000776IDA-kinetochore11056532
GO:0005635IDA-nuclear envelope11940666
GO:0005813IDA-centrosome21399614
GO:0005813ISS-centrosome-
GO:0005829ISS-cytosol8028668
GO:0005829TAS-cytosol-
GO:0005871IEA-kinesin complex-
GO:0005875IDA-microtubule associated complex11889140
GO:0005938IDA-cell cortex11940666
GO:0031252ISScolocalizes_withcell leading edge-
GO:0031514ISS-motile cilium-
GO:0031965IEA-nuclear membrane-
GO:0032420IEA-stereocilium-
GO:0043025IEA-neuronal cell body-
GO:0048471ISS-perinuclear region of cytoplasm-
GO:0070062IDA-extracellular exosome19056867
GO:0090724IEA-central region of growth cone-
GO:1904115IEA-axon cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0004623TAS-phospholipase A2 activity-
GO:0005515IPI-protein binding10931877
GO:0008017IBA-microtubule binding-
GO:0008017ISS-microtubule binding10729324
GO:0008201ISS-heparin binding8028668
GO:0034452ISS-dynactin binding11056532
GO:0042803ISS-protein homodimerization activity-
GO:0043274ISS-phospholipase binding8028668
GO:0045505IEA-dynein intermediate chain binding-
GO:0051219ISS-phosphoprotein binding-
GO:0070840IDA-dynein complex binding11889140
GO ID Evidence Qualifier GO_term References
GO:0000086TAS-G2/M transition of mitotic cell cycle-
GO:0000132IMP-establishment of mitotic spindle orientation11056532
GO:0000226ISS-microtubule cytoskeleton organization10729324
GO:0001667IEA-ameboidal-type cell migration-
GO:0001675ISS-acrosome assembly-
GO:0001764IMP-neuron migration11163258
GO:0001764ISS-neuron migration10729324
GO:0001961IEA-positive regulation of cytokine-mediated signaling pathway-
GO:0007017IDA-microtubule-based process11940666
GO:0007062TAS-sister chromatid cohesion-
GO:0007097IBA-nuclear migration-
GO:0007268ISS-chemical synaptic transmission10729324
GO:0007281IBA-germ cell development-
GO:0007405ISS-neuroblast proliferation10729324
GO:0007611ISS-learning or memory-
GO:0008090IBA-retrograde axonal transport-
GO:0008090ISS-retrograde axonal transport10729324
GO:0008344IMP-adult locomotory behavior9063735
GO:0009306IEA-protein secretion-
GO:0010977IEA-negative regulation of neuron projection development-
GO:0016042IEA-lipid catabolic process-
GO:0017145IEA-stem cell division-
GO:0019226ISS-transmission of nerve impulse10729324
GO:0021540IMP-corpus callosum morphogenesis9063735
GO:0021766ISS-hippocampus development-
GO:0021819ISS-layer formation in cerebral cortex-
GO:0021895IEA-cerebral cortex neuron differentiation-
GO:0021987IMP-cerebral cortex development9063735
GO:0030036ISS-actin cytoskeleton organization10729324
GO:0031023IMP-microtubule organizing center organization11163258
GO:0036035IEA-osteoclast development-
GO:0040019IEA-positive regulation of embryonic development-
GO:0042249IEA-establishment of planar polarity of embryonic epithelium-
GO:0043087IEA-regulation of GTPase activity-
GO:0043622IEA-cortical microtubule organization-
GO:0045773IEA-positive regulation of axon extension-
GO:0045931IEA-positive regulation of mitotic cell cycle-
GO:0046329IEA-negative regulation of JNK cascade-
GO:0046469ISS-platelet activating factor metabolic process8028668
GO:0047496IBA-vesicle transport along microtubule-
GO:0047496ISS-vesicle transport along microtubule10729324
GO:0048854IMP-brain morphogenesis9063735
GO:0050885IMP-neuromuscular process controlling balance9063735
GO:0051081IEA-nuclear envelope disassembly-
GO:0051660IEA-establishment of centrosome localization-
GO:0051661IEA-maintenance of centrosome location-
GO:0060117IEA-auditory receptor cell development-
GO:0061003IEA-positive regulation of dendritic spine morphogenesis-
GO:0070507IEA-regulation of microtubule cytoskeleton organization-
GO:0090102IEA-cochlea development-
GO:0090176IEA-microtubule cytoskeleton organization involved in establishment of planar polarity-
GO:0097711TAS-ciliary basal body docking-
GO:2000574IBA-regulation of microtubule motor activity-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PAFAH1B1CSNK2A110784110491172 Biochemical Activity
PAFAH1B1CSNK2A111108510491172 Biochemical Activity
PAFAH1B1DCTN110800711889140 Affinity Capture-Western
PAFAH1B1DCTN111108511889140 Affinity Capture-Western
PAFAH1B1DCX10800811001923 Affinity Capture-Western; Reconstituted Complex
PAFAH1B1DCX11108511001923 Affinity Capture-Western; Reconstituted Complex
PAFAH1B1DYNC1H111108511889140 Affinity Capture-Western; Two-hybrid
PAFAH1B1DYNC1H110811711889140 Affinity Capture-Western; Two-hybrid
PAFAH1B1KARS10993816169070 Two-hybrid
PAFAH1B1KARS11108516169070 Two-hybrid
TUBA1APAFAH1B11110859384577 Reconstituted Complex
TUBA1APAFAH1B11136039384577 Reconstituted Complex
NUDCPAFAH1B11159509601647 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
NUDCPAFAH1B11110859601647 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PAFAH1B2PAFAH1B111108510727864 Reconstituted Complex; Two-hybrid
PAFAH1B2PAFAH1B111108610727864 Reconstituted Complex; Two-hybrid
PAFAH1B3PAFAH1B111108510727864 Reconstituted Complex; Two-hybrid
PAFAH1B3PAFAH1B111108710727864 Reconstituted Complex; Two-hybrid
NDEL1PAFAH1B112352711163260 12796778 Co-localization; Reconstituted Complex; Two-hybrid
NDEL1PAFAH1B111108511163260 12796778 Co-localization; Reconstituted Complex; Two-hybrid
PAFAH1B1PAFAH1B111108511889140 Affinity Capture-Western
DCTN2PAFAH1B111579411889140 Two-hybrid
DCTN2PAFAH1B111108511889140 Two-hybrid
CLIP1PAFAH1B111216311940666 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CLIP1PAFAH1B111108511940666 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
WDR5PAFAH1B111627217041588 Affinity Capture-Western
WDR5PAFAH1B111108517041588 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
PAFAH1B1rs1266474, rs1266475, rs12938775, rs2240730, rs4790356, rs7212450, rs7223411, rs8068673, rs8081803, rs9905797 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:109520
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-040116-2'