PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1 | LIS1, NudF, PAFAH, MDCR, MDS

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, Apr 2009]

Member of: DE-4 DE-4.2

Biological processes 111 terms

1-alkyl-2-acetylglycerophosphocholine esterase complex (GO:0008247)1-alkyl-2-acetylglycerophosphocholine esterase complex (GO:0008247)Schaffer collateral - CA1 synapse (GO:0098685)acrosome assembly (GO:0001675)actin cytoskeleton organization (GO:0030036)adult locomotory behavior (GO:0008344)astral microtubule (GO:0000235)auditory receptor cell development (GO:0060117)axon (GO:0030424)axon cytoplasm (GO:1904115)brain morphogenesis (GO:0048854)cell cortex (GO:0005938)cell leading edge (GO:0031252)cell leading edge (GO:0031252)central region of growth cone (GO:0090724)centrosome (GO:0005813)centrosome (GO:0005813)centrosome (GO:0005813)centrosome (GO:0005813)cerebral cortex development (GO:0021987)cerebral cortex neuron differentiation (GO:0021895)chemical synaptic transmission (GO:0007268)cochlea development (GO:0090102)corpus callosum morphogenesis (GO:0021540)cortical microtubule organization (GO:0043622)cytoplasm (GO:0005737)cytoplasm (GO:0005737)cytoplasm (GO:0005737)cytoskeleton (GO:0005856)cytosol (GO:0005829)cytosol (GO:0005829)dynactin binding (GO:0034452)dynein complex binding (GO:0070840)dynein complex binding (GO:0070840)dynein intermediate chain binding (GO:0045505)establishment of centrosome localization (GO:0051660)establishment of mitotic spindle orientation (GO:0000132)establishment of mitotic spindle orientation (GO:0000132)establishment of organelle localization (GO:0051656)establishment of planar polarity of embryonic epithelium (GO:0042249)extracellular exosome (GO:0070062)forebrain development (GO:0030900)glutamatergic synapse (GO:0098978)growth cone (GO:0030426)heparin binding (GO:0008201)hippocampus development (GO:0021766)identical protein binding (GO:0042802)identical protein binding (GO:0042802)kinesin complex (GO:0005871)kinetochore (GO:0000776)kinetochore (GO:0000776)layer formation in cerebral cortex (GO:0021819)learning or memory (GO:0007611)microtubule associated complex (GO:0005875)microtubule associated complex (GO:0005875)microtubule associated complex (GO:0005875)microtubule binding (GO:0008017)microtubule binding (GO:0008017)microtubule binding (GO:0008017)microtubule cytoskeleton (GO:0015630)microtubule cytoskeleton (GO:0015630)microtubule cytoskeleton organization (GO:0000226)microtubule cytoskeleton organization involved in establishment of planar polarity (GO:0090176)microtubule organizing center organization (GO:0031023)microtubule sliding (GO:0051012)microtubule-based process (GO:0007017)microtubule-based process (GO:0007017)modulation of chemical synaptic transmission (GO:0050804)motile cilium (GO:0031514)motile cilium (GO:0031514)negative regulation of neuron projection development (GO:0010977)nervous system development (GO:0007399)neuroblast proliferation (GO:0007405)neuromuscular process controlling balance (GO:0050885)neuron migration (GO:0001764)neuron migration (GO:0001764)neuron migration (GO:0001764)neuron migration (GO:0001764)neuronal cell body (GO:0043025)nuclear envelope (GO:0005635)nuclear envelope (GO:0005635)nuclear membrane (GO:0031965)nuclear migration (GO:0007097)nucleus (GO:0005634)perinuclear region of cytoplasm (GO:0048471)perinuclear region of cytoplasm (GO:0048471)phospholipase binding (GO:0043274)phosphoprotein binding (GO:0051219)phosphoprotein binding (GO:0051219)platelet activating factor catabolic process (GO:0062234)platelet activating factor metabolic process (GO:0046469)positive regulation of axon extension (GO:0045773)positive regulation of cellular component organization (GO:0051130)positive regulation of dendritic spine morphogenesis (GO:0061003)positive regulation of embryonic development (GO:0040019)positive regulation of mitotic cell cycle (GO:0045931)protein binding (GO:0005515)protein heterodimerization activity (GO:0046982)protein-containing complex binding (GO:0044877)reelin-mediated signaling pathway (GO:0038026)reelin-mediated signaling pathway (GO:0038026)regulation of microtubule cytoskeleton organization (GO:0070507)regulation of postsynapse organization (GO:0099175)retrograde axonal transport (GO:0008090)retrograde axonal transport (GO:0008090)spindle (GO:0005819)stem cell division (GO:0017145)stereocilium (GO:0032420)transmission of nerve impulse (GO:0019226)vesicle (GO:0031982)vesicle transport along microtubule (GO:0047496)

Expression (TPM)

TFs regulating PAFAH1B1 0 TFs

Transcription factors with Perturb-seq knockdown data for PAFAH1B1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = PAFAH1B1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to PAFAH1B1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of PAFAH1B1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr17:2,302,778–2,304,288	289.9 kb	Distal (>10kb) Multiome	770
chr17:2,336,166–2,337,712	257.2 kb	Distal (>10kb) Multiome	896
chr17:2,392,290–2,394,855	200.8 kb	Distal (>10kb) Multiome	788
chr17:2,396,361–2,397,494	196.7 kb	Distal (>10kb) Multiome	546
chr17:2,398,260–2,402,837	194.0 kb	Distal (>10kb) Multiome	1128
chr17:2,511,517–2,512,317	81.7 kb	Distal (>10kb) Multiome	698
chr17:2,592,971–2,594,792	26 bp	At TSS Multiome	853
chr17:2,602,637–2,602,955	9.0 kb	Proximal (<10kb)	158
chr17:2,691,692–2,692,319	98.3 kb	Distal (>10kb) Multiome	66
chr17:2,710,909–2,712,254	118.2 kb	Distal (>10kb) Multiome	864
chr17:2,716,507–2,717,103	123.1 kb	Distal (>10kb) Multiome	112
chr17:2,723,482–2,725,106	130.3 kb	Distal (>10kb) Multiome	477
chr17:2,749,134–2,750,125	156.2 kb	Distal (>10kb) Multiome	859
chr17:2,755,248–2,756,668	161.9 kb	Distal (>10kb) Multiome	347
chr17:2,776,093–2,777,278	183.1 kb	Distal (>10kb) Multiome	372
chr17:2,786,083–2,786,614	192.8 kb	Distal (>10kb) Multiome	526
chr17:2,852,945–2,854,316	260.1 kb	Distal (>10kb) Multiome	362
chr17:2,874,180–2,874,725	280.8 kb	Distal (>10kb) Multiome	101

Genome Browser

Genomic view of the PAFAH1B1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.