| URN | urn:agi-llid:4186 |
|---|---|
| Connectivity | 77 |
| Name | PAFAH1B1 |
| Description | platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) |
| Notes | 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] |
| Pathway | reelin signaling pathway |
|---|---|
| Reelin signaling pathway | |
| Reelin signaling pathway |
| GO Molecular Function | hydrolase activity |
|---|---|
| phosphoprotein binding | |
| protein complex binding | |
| dynein binding | |
| protein homodimerization activity | |
| dynein intermediate chain binding | |
| dynactin binding | |
| phospholipase binding | |
| microtubule binding | |
| heparin binding | |
| platelet-activating factor acetyltransferase activity |
| GO Cellular Component | cell leading edge |
|---|---|
| membrane | |
| soluble fraction | |
| insoluble fraction | |
| neuron projection | |
| neuronal cell body | |
| growth cone | |
| cytoplasm | |
| axon part | |
| perinuclear region of cytoplasm | |
| cell cortex | |
| cytosol | |
| centrosome | |
| astral microtubule | |
| kinetochore | |
| nuclear membrane | |
| nuclear envelope | |
| microtubule associated complex | |
| microtubule | |
| spindle | |
| kinesin complex | |
| cytoskeleton | |
| nucleus | |
| microtubule cytoskeleton | |
| vesicular fraction | |
| motile primary cilium | |
| nonmotile primary cilium |
| GO Biological Process | neuroblast proliferation |
|---|---|
| cell division | |
| cell cycle | |
| microtubule-based process | |
| multicellular organismal development | |
| transport | |
| cerebral cortex development | |
| hippocampus development | |
| cell differentiation | |
| acrosome assembly | |
| layer formation in the cerebral cortex | |
| positive regulation of axon extension | |
| nervous system development | |
| negative regulation of neuron projection development | |
| corpus callosum morphogenesis | |
| cerebral cortex neuron differentiation | |
| brain morphogenesis | |
| adult locomotory behavior | |
| transmission of nerve impulse | |
| learning or memory | |
| neuromuscular process controlling balance | |
| microtubule organizing center organization | |
| microtubule cytoskeleton organization | |
| actin cytoskeleton organization | |
| stem cell division | |
| establishment of mitotic spindle orientation | |
| mitosis | |
| vesicle transport along microtubule | |
| retrograde axon cargo transport | |
| positive regulation of mitotic cell cycle | |
| synaptic transmission | |
| regulation of Rho GTPase activity | |
| nuclear envelope disassembly | |
| cell migration | |
| neuron migration | |
| platelet activating factor metabolic process | |
| cellular response to protein stimulus | |
| lipid catabolic process | |
| establishment of centrosome localization | |
| nuclear migration |
| Ariadne Ontology | Phospholipid biosynthesis |
|---|---|
| Microtubule cytoskeleton assembly | |
| Kinetochore assembly | |
| Microtubule sliding | |
| Spindle assembly |
| Group | Phospholipid biosynthesis |
|---|---|
| Microtubule cytoskeleton assembly | |
| Kinetochore assembly | |
| Microtubule sliding | |
| Spindle assembly | |
| neuroblast proliferation | |
| cell division | |
| cell cycle | |
| microtubule-based process | |
| multicellular organismal development | |
| transport | |
| cerebral cortex development | |
| hippocampus development | |
| cell differentiation | |
| acrosome assembly | |
| layer formation in the cerebral cortex | |
| positive regulation of axon extension | |
| nervous system development | |
| negative regulation of neuron projection development | |
| corpus callosum morphogenesis | |
| cerebral cortex neuron differentiation | |
| brain morphogenesis | |
| adult locomotory behavior | |
| transmission of nerve impulse | |
| learning or memory | |
| neuromuscular process controlling balance | |
| microtubule organizing center organization | |
| microtubule cytoskeleton organization | |
| actin cytoskeleton organization | |
| stem cell division | |
| establishment of mitotic spindle orientation | |
| mitosis | |
| vesicle transport along microtubule | |
| retrograde axon cargo transport | |
| positive regulation of mitotic cell cycle | |
| synaptic transmission | |
| regulation of Rho GTPase activity | |
| nuclear envelope disassembly | |
| cell migration | |
| neuron migration | |
| platelet activating factor metabolic process | |
| cellular response to protein stimulus | |
| lipid catabolic process | |
| establishment of centrosome localization | |
| nuclear migration | |
| hydrolase activity | |
| phosphoprotein binding | |
| protein complex binding | |
| dynein binding | |
| protein homodimerization activity | |
| dynein intermediate chain binding | |
| dynactin binding | |
| phospholipase binding | |
| microtubule binding | |
| heparin binding | |
| platelet-activating factor acetyltransferase activity | |
| cell leading edge | |
| membrane | |
| soluble fraction | |
| insoluble fraction | |
| neuron projection | |
| neuronal cell body | |
| growth cone | |
| cytoplasm | |
| axon part | |
| perinuclear region of cytoplasm | |
| cell cortex | |
| cytosol | |
| centrosome | |
| astral microtubule | |
| kinetochore | |
| nuclear membrane | |
| nuclear envelope | |
| microtubule associated complex | |
| microtubule | |
| spindle | |
| kinesin complex | |
| cytoskeleton | |
| nucleus | |
| microtubule cytoskeleton | |
| vesicular fraction | |
| motile primary cilium | |
| nonmotile primary cilium |
| MedScan ID | 4186 |
|---|
| Hugo ID | 8574 |
|---|
| Human chromosome position | 17p13.3 |
|---|
| LocusLink ID | 4186 |
|---|---|
| 5048 | |
| 18472 | |
| 83572 |
| Alias | MDS |
|---|---|
| LIS1 | |
| LIS2 | |
| MDCR | |
| PAFAH | |
| platelet-activating factor acetylhydrolase IB subunit alpha | |
| LIS-1 | |
| PAFAH alpha | |
| PAF-AH alpha | |
| PAF-AH 45 kDa subunit | |
| lissencephaly 1 protein | |
| lissencephaly-1 protein | |
| PAF acetylhydrolase 45 kDa subunit | |
| platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) | |
| platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD) | |
| Mdsh | |
| Ms10u | |
| Pafaha | |
| MMS10-U | |
| MGC25297 | |
| RP23-194P5.2 | |
| OTTMUSP00000006469 | |
| OTTMUSP00000006470 | |
| platelet-activating factor acetylhydrolase IB alpha subunit | |
| platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 | |
| platelet-activating factor acetylhydrolase, isoform 1b, beta1 subunit | |
| PAF-AH beta | |
| platelet-activating factor acetylhydrolase beta subunit (PAF-AH beta) | |
| platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa | |
| CYTOSOLIC PAF-AH IB | |
| LIS I | |
| Lissencephaly 1 gene | |
| Lissencephaly-1 gene | |
| LOC100046589 | |
| MDS protein | |
| Miller-Dieker syndrome chromosome region | |
| minisatellite 10u detected by probe MMS10 | |
| PAF acetylhydrolase 1B | |
| PAF-AH 1B | |
| PAF-AH 45 | |
| PAF-AH IB | |
| Pafah1b I | |
| Pafah1b1 | |
| platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) | |
| platelet-activating factor acetylhydrolase beta subunit | |
| platelet-activating factor acetylhydrolase Ib | |
| Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit | |
| platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 | |
| platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD | |
| platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit | |
| PAF-AH 45 kDa subunit |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 601545 |
|---|---|
| 607432 | |
| 247200 |
| Mouse chromosome position | 11 44.0 cM |
|---|
| GO ID | 0034452 |
|---|---|
| 0045502 | |
| 0045505 | |
| 0008201 | |
| 0008017 | |
| 0043274 | |
| 0051219 | |
| 0042803 | |
| 0001675 | |
| 0030036 | |
| 0008344 | |
| 0048854 | |
| 0007049 | |
| 0030154 | |
| 0021987 | |
| 0021540 | |
| 0000132 | |
| 0021766 | |
| 0021819 | |
| 0007611 | |
| 0016042 | |
| 0000226 | |
| 0031023 | |
| 0007017 | |
| 0007067 | |
| 0007275 | |
| 0007399 | |
| 0007405 | |
| 0050885 | |
| 0001764 | |
| 0051081 | |
| 0046469 | |
| 0032319 | |
| 0008090 | |
| 0017145 | |
| 0007268 | |
| 0019226 | |
| 0006810 | |
| 0047496 | |
| 0000235 | |
| 0005938 | |
| 0031252 | |
| 0005813 | |
| 0005737 | |
| 0005829 | |
| 0030426 | |
| 0005626 | |
| 0000776 | |
| 0016020 | |
| 0005874 | |
| 0005875 | |
| 0031512 | |
| 0043025 | |
| 0031513 | |
| 0005635 | |
| 0031965 | |
| 0005634 | |
| 0048471 | |
| 0005625 | |
| 0005819 | |
| 0042598 | |
| 0016787 | |
| 0051301 | |
| 0016477 | |
| 0005856 | |
| 0015630 | |
| 0047179 | |
| 0032403 | |
| 0071445 | |
| 0021895 | |
| 0051660 | |
| 0010977 | |
| 0007097 | |
| 0045773 | |
| 0045931 | |
| 0033267 | |
| 0005871 | |
| 0043005 | |
| 0005515 |
| Rat chromosome position | 10q24 |
|---|
| Swiss-Prot Accession | P43034 |
|---|---|
| P63005 | |
| Q3UH92 | |
| Q5SW18 | |
| Q3TIK0 | |
| Q3TJG1 | |
| Q3TUH5 | |
| Q3UGR6 | |
| Q3UHM0 | |
| Q5SW16 | |
| P63004 | |
| O35592 | |
| P43035 | |
| P81692 | |
| Q9R2A6 | |
| B2R7Q7 | |
| Q8WZ88 | |
| Q8WZ89 |
| PIR ID | S36113 |
|---|
| Unigene ID | Hs.77318 |
|---|---|
| Mm.397111 | |
| Rn.5827 |
| KEGG ID | hsa:5048 |
|---|---|
| mmu:18472 | |
| rno:83572 |
| EC Number | 3.1.1.47 |
|---|
| Swiss-Prot ID | LIS1_RAT |
|---|---|
| LIS1_HUMAN | |
| LIS1_MOUSE | |
| Q3UH92_MOUSE | |
| Q5SW18_MOUSE | |
| B2R7Q7_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| cytoskeleton | |
| centrosome | |
| spindle | |
| Nucleus membrane | |
| Nucleus |
| IPI ID | IPI00231298 |
|---|---|
| IPI00218728 | |
| IPI00760905 | |
| IPI00227864 | |
| IPI00309207 | |
| IPI00873228 | |
| IPI00755990 | |
| IPI00648594 |
| Homologene ID | 371 |
|---|
| RGD ID | 620331 |
|---|
| MGI ID | 109520 |
|---|