Logo
full name
platelet activating factor acetylhydrolase 1b regulatory subunit 1

synonyms
LIS1, LIS2, MDCR, MDS, PAFAH, PAFAH1B1, ENSG00000007168

HGNC
HGNC:8574

Entrez Gene
Gene:5048

ENSEMBL
ENSG00000007168

location
chr: 17
start: 2496923
stop: 2588909
strand: +

OMIM
OMIM:601545: PAFAH1B1 (Sporadic)
OMIM:607432: Lissencephaly 1
OMIM:607432: Subcortical laminar heterotopia

transcripts
NM_000430.3

pathways
AURKA Activation by TPX2 [NCBI:1383018] [REACTOME:R-HSA-8854518] [PUBMED:14580337] [PUBMED:21147853] [PUBMED:22094468] [PUBMED:21347367]
Anchoring of the basal body to the plasma membrane [NCBI:1268847] [REACTOME:R-HSA-5620912] [PUBMED:21816947] [PUBMED:23747070] [PUBMED:19575670] [PUBMED:13978319] [PUBMED:23348840] [PUBMED:25047614] [PUBMED:20819941] [PUBMED:5661997] [PUBMED:21422230] [PUBMED:24469809] [PUBMED:23530209] [PUBMED:21725307] [PUBMED:21680046] [PUBMED:23351793] [PUBMED:21427764] [PUBMED:11676918] [PUBMED:22653444]
COPI-independent Golgi-to-ER retrograde traffic [NCBI:1383043] [REACTOME:R-HSA-6811436] [PUBMED:23783758] [PUBMED:9671731] [PUBMED:25233431] [PUBMED:22130221] [PUBMED:10559986] [PUBMED:12447383] [PUBMED:10562278]
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle, Mitotic [NCBI:1269763] [REACTOME:R-HSA-69278]
Centrosome maturation [NCBI:1269805] [REACTOME:R-HSA-380287] [PUBMED:17178454] [PUBMED:18437411]
Cilium Assembly [NCBI:1268846] [REACTOME:R-HSA-5617833] [PUBMED:21427764] [PUBMED:23351793] [PUBMED:25040720] [PUBMED:17955020] [PUBMED:22118932] [PUBMED:22653444] [PUBMED:22389062] [PUBMED:20399632] [PUBMED:25047619] [PUBMED:20395968] [PUBMED:23945166] [PUBMED:19575670] [PUBMED:24296415] [PUBMED:20145001] [PUBMED:19602418]
Ether lipid metabolism [NCBI:82990] [KEGG:hsa00565] [PUBMED:11015622] [PUBMED:11275267] [PUBMED:15788404]
G2/M Transition [NCBI:1269799] [REACTOME:R-HSA-69275]
Golgi-to-ER retrograde transport [NCBI:1383041] [REACTOME:R-HSA-8856688] [PUBMED:23732476] [PUBMED:23378591] [PUBMED:25233431]
Intra-Golgi and retrograde Golgi-to-ER traffic [NCBI:1383038] [REACTOME:R-HSA-6811442] [PUBMED:11756463] [PUBMED:23839779] [PUBMED:21436057] [PUBMED:22013193] [PUBMED:21421921] [PUBMED:25233431] [PUBMED:16157178] [PUBMED:12121415] [PUBMED:25343031] [PUBMED:24068461] [PUBMED:19575639]
Lissencephaly gene (LIS1) in neuronal migration and development [NCBI:137984] [Pathway Interaction Database:lis1pathway] [PUBMED:16203747] [PUBMED:16369480] [PUBMED:16138011] [PUBMED:8090221] [PUBMED:14578885] [PUBMED:11940666] [PUBMED:7690334] [PUBMED:10491172] [PUBMED:15762842] [PUBMED:11734602] [PUBMED:11889140] [PUBMED:12796778] [PUBMED:14507966] [PUBMED:11163260] [PUBMED:14724251] [PUBMED:12911752] [PUBMED:10896159]
Loss of Nlp from mitotic centrosomes [NCBI:1269809] [REACTOME:R-HSA-380259] [PUBMED:12852856]
Loss of proteins required for interphase microtubule organization from the centrosome [NCBI:1269808] [REACTOME:R-HSA-380284] [PUBMED:12140259] [PUBMED:12852856]
M Phase [NCBI:1269810] [REACTOME:R-HSA-68886]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Mitotic Anaphase [NCBI:1269825] [REACTOME:R-HSA-68882]
Mitotic G2-G2/M phases [NCBI:1269797] [REACTOME:R-HSA-453274]
Mitotic Metaphase and Anaphase [NCBI:1269823] [REACTOME:R-HSA-2555396]
Mitotic Prometaphase [NCBI:1269820] [REACTOME:R-HSA-68877]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]
RHO GTPase Effectors [NCBI:1269509] [REACTOME:R-HSA-195258] [PUBMED:9694656] [PUBMED:18066052] [PUBMED:11018042] [PUBMED:10470034] [PUBMED:8702756] [PUBMED:21730051] [PUBMED:8571126] [PUBMED:19513348] [PUBMED:17244649] [PUBMED:11145705] [PUBMED:24128008] [PUBMED:23716662] [PUBMED:8617235] [PUBMED:8543060] [PUBMED:11804587] [PUBMED:24969695] [PUBMED:12635176] [PUBMED:12778124] [PUBMED:18006505] [PUBMED:1660188] [PUBMED:21351730] [PUBMED:16507994] [PUBMED:14595335] [PUBMED:10072071] [PUBMED:10591629] [PUBMED:10753910] [PUBMED:23875749] [PUBMED:17151359] [PUBMED:10652353] [PUBMED:12221077] [PUBMED:10559936] [PUBMED:12783890] [PUBMED:11948177] [PUBMED:18237546] [PUBMED:16079795] [PUBMED:10924361] [PUBMED:14514689] [PUBMED:8107774] [PUBMED:8756646] [PUBMED:16979770] [PUBMED:16636067] [PUBMED:9751706] [PUBMED:10619026] [PUBMED:23444367] [PUBMED:15546864] [PUBMED:12473120] [PUBMED:8816443] [PUBMED:9199170] [PUBMED:12514133] [PUBMED:16762923] [PUBMED:12110184] [PUBMED:16431929] [PUBMED:10975528] [PUBMED:10940294] [PUBMED:9535855] [PUBMED:7559638] [PUBMED:11162552] [PUBMED:19737400] [PUBMED:9988689] [PUBMED:12732141] [PUBMED:8798539] [PUBMED:24914801] [PUBMED:11689693] [PUBMED:8769096] [PUBMED:9368021]
RHO GTPases Activate Formins [NCBI:1269519] [REACTOME:R-HSA-5663220] [PUBMED:20233848] [PUBMED:15507212] [PUBMED:16292343] [PUBMED:12906795] [PUBMED:11779461] [PUBMED:21397845] [PUBMED:12577064] [PUBMED:17198702] [PUBMED:15006353] [PUBMED:20101212] [PUBMED:15944396] [PUBMED:10678165] [PUBMED:16943183] [PUBMED:16439214] [PUBMED:16472745] [PUBMED:10958683] [PUBMED:12732141] [PUBMED:15085137] [PUBMED:24914801] [PUBMED:9497258] [PUBMED:21576392] [PUBMED:21868368]
Recruitment of mitotic centrosome proteins and complexes [NCBI:1269806] [REACTOME:R-HSA-380270] [PUBMED:18437411] [PUBMED:17178454]
Reelin signaling pathway [NCBI:137980] [Pathway Interaction Database:reelinpathway] [PUBMED:12526739] [PUBMED:12899622] [PUBMED:14517291] [PUBMED:10939329] [PUBMED:16148228] [PUBMED:15062102] [PUBMED:15987942] [PUBMED:15091337] [PUBMED:12376533] [PUBMED:10827199] [PUBMED:12882964] [PUBMED:15590913] [PUBMED:14724251] [PUBMED:15361067] [PUBMED:14578885]
Regulation of PLK1 Activity at G2/M Transition [NCBI:1269803] [REACTOME:R-HSA-2565942] [PUBMED:12207013] [PUBMED:18615013] [PUBMED:13678582] [PUBMED:18378770] [PUBMED:18566290] [PUBMED:18477460] [PUBMED:22365832]
Resolution of Sister Chromatid Cohesion [NCBI:1269821] [REACTOME:R-HSA-2500257] [PUBMED:16541025] [PUBMED:15339662] [PUBMED:17112726] [PUBMED:9649503] [PUBMED:21111234] [PUBMED:15737063] [PUBMED:17113138] [PUBMED:21987589] [PUBMED:14730319] [PUBMED:11509732] [PUBMED:19696148] [PUBMED:21878504] [PUBMED:15723797]
Separation of Sister Chromatids [NCBI:1269826] [REACTOME:R-HSA-2467813] [PUBMED:11081627] [PUBMED:10411507] [PUBMED:12070128] [PUBMED:12194817] [PUBMED:11509732]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by Rho GTPases [NCBI:1269507] [REACTOME:R-HSA-194315] [PUBMED:16212495] [PUBMED:15630019]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]