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Genes
PAFAH1B1
Gene - PAFAH1B1
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]