Summary ?
GeneID5048
SymbolPAFAH1B1
SynonymsLIS1|LIS2|MDCR|MDS|PAFAH
Descriptionplatelet activating factor acetylhydrolase 1b regulatory subunit 1
ReferenceMIM:601545|HGNC:HGNC:8574|Ensembl:ENSG00000007168|HPRD:03329|Vega:OTTHUMG00000177574
Gene typeprotein-coding
Map location17p13.3
Pascal p-value0.043
Sherlock p-value0.446
Fetal beta0.455
SupportINTRACELLULAR SIGNAL TRANSDUCTION

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 8 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.1894 

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
CDCA7L0.870.61
CDK20.860.48
GLI30.860.68
WEE10.850.35
HELLS0.850.25
MELK0.850.27
FANCI0.850.26
TEAD20.850.40
KIF230.850.19
CCNB20.850.28
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
ADAP1-0.34-0.28
FXYD7-0.33-0.25
P2RX5-0.32-0.31
KCNF1-0.32-0.36
PINK1-0.32-0.33
KAZALD1-0.32-0.24
RLTPR-0.32-0.26
ASPHD1-0.31-0.20
CKMT1A-0.31-0.29
SULT4A1-0.31-0.40

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0008201heparin bindingISS8028668 
GO:0008017microtubule bindingIEA-
GO:0051219phosphoprotein bindingISS-
GO:0042803protein homodimerization activityIEA-
GO:0043274phospholipase bindingISS8028668 
GO:0034452dynactin bindingISS11056532 
GO:0045502dynein bindingIDA11889140 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007405neuroblast proliferationIEAneuron (GO term level: 8)-
GO:0001764neuron migrationIEAneuron (GO term level: 8)-
GO:0007268synaptic transmissionIEAneuron, Synap, Neurotransmitter (GO term level: 6)-
GO:0021540corpus callosum morphogenesisIMPneuron, axon (GO term level: 15)9063735 
GO:0048854brain morphogenesisIMPBrain (GO term level: 8)9063735 
GO:0008090retrograde axon cargo transportIEAaxon (GO term level: 9)-
GO:0021819layer formation in the cerebral cortexISSGlial (GO term level: 15)-
GO:0007399nervous system developmentIEAneurite (GO term level: 5)-
GO:0000132establishment of mitotic spindle orientationIMP11056532 
GO:0000226microtubule cytoskeleton organizationIEA-
GO:0001675acrosome formationIEA-
GO:0016042lipid catabolic processIEA-
GO:0007049cell cycleIEA-
GO:0007067mitosisIEA-
GO:0008344adult locomotory behaviorIEA-
GO:0007611learning or memoryIEA-
GO:0006810transportIEA-
GO:0007275multicellular organismal developmentIEA-
GO:0030154cell differentiationIEA-
GO:0030036actin cytoskeleton organizationISS10729324 
GO:0021987cerebral cortex developmentIEA-
GO:0050885neuromuscular process controlling balanceIEA-
GO:0021766hippocampus developmentIEA-
GO:0032319regulation of Rho GTPase activityISS10729324 
GO:0051301cell divisionIEA-
GO:0047496vesicle transport along microtubuleIEA-
GO:0046469platelet activating factor metabolic processISS8028668 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000235astral microtubuleIDA11940666 
GO:0000776kinetochoreIDA11056532 |11889140 |11940666 
GO:0005813centrosomeIEA-
GO:0005819spindleIEA-
GO:0005829cytosolISS8028668 
GO:0005874microtubuleIEA-
GO:0005875microtubule associated complexIDA11889140 
GO:0005634nucleusIEA-
GO:0005737cytoplasmIEA-
GO:0016020membraneIEA-
GO:0005938cell cortexIDA11940666 
GO:0048471perinuclear region of cytoplasmISS-
GO:0031513nonmotile primary ciliumISS-
GO:0031512motile primary ciliumIEA-
GO:0031252cell leading edgeIEA-
GO:0031965nuclear membraneIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
CLIP1CLIP | CLIP-170 | CLIP170 | CYLN1 | MGC131604 | RSNCAP-GLY domain containing linker protein 1-HPRD,BioGRID11940666 
CSNK2A1CK2A1 | CKIIcasein kinase 2, alpha 1 polypeptide-HPRD,BioGRID10491172 
DAB1-disabled homolog 1 (Drosophila)-HPRD14578885 
DCTN1DAP-150 | DP-150 | HMN7B | P135dynactin 1 (p150, glued homolog, Drosophila)-HPRD,BioGRID11889140|14584027 
DCTN2DCTN50 | DYNAMITIN | RBP50dynactin 2 (p50)Two-hybridBioGRID11889140 
DCXDBCN | DC | LISX | SCLH | XLISdoublecortin-HPRD,BioGRID11001923 
DNAI1CILD1 | ICS | MGC26204 | PCDdynein, axonemal, intermediate chain 1-HPRD11889140 
DYNC1H1DHC1 | DHC1a | DKFZp686P2245 | DNCH1 | DNCL | DNECL | DYHC | Dnchc1 | HL-3 | KIAA0325 | p22dynein, cytoplasmic 1, heavy chain 1Affinity Capture-Western
Two-hybrid
BioGRID11889140 
HSPH1DKFZp686M05240 | HSP105 | HSP105A | HSP105B | KIAA0201 | NY-CO-25heat shock 105kDa/110kDa protein 1-HPRD14733918 
KARSKARS2 | KIAA0070 | KRSlysyl-tRNA synthetaseTwo-hybridBioGRID16169070 
NDE1FLJ20101 | HOM-TES-87 | NUDE | NUDE1nudE nuclear distribution gene E homolog 1 (A. nidulans)-HPRD11163258 
NDEL1DKFZp451M0318 | EOPA | MITAP1 | NUDELnudE nuclear distribution gene E homolog (A. nidulans)-like 1-HPRD,BioGRID11163260 
NUDCHNUDC | MNUDC | NPD011nuclear distribution gene C homolog (A. nidulans)-HPRD,BioGRID9601647 |11734602 
PAFAH1B1LIS1 | LIS2 | MDCR | MDS | PAFAHplatelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa-HPRD,BioGRID11889140 
PAFAH1B2-platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa-HPRD,BioGRID10727864 
PAFAH1B3-platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa-HPRD,BioGRID10727864 
TUBA1AB-ALPHA-1 | FLJ25113 | LIS3 | TUBA3tubulin, alpha 1aReconstituted ComplexBioGRID9384577 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG ETHER LIPID METABOLISM 3315All SZGR 2.0 genes in this pathway
PID REELIN PATHWAY 2929All SZGR 2.0 genes in this pathway
PID LIS1 PATHWAY 2822All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE MITOTIC 325185All SZGR 2.0 genes in this pathway
REACTOME RECRUITMENT OF MITOTIC CENTROSOME PROTEINS AND COMPLEXES 6643All SZGR 2.0 genes in this pathway
REACTOME LOSS OF NLP FROM MITOTIC CENTROSOMES 5938All SZGR 2.0 genes in this pathway
REACTOME MITOTIC M M G1 PHASES 17298All SZGR 2.0 genes in this pathway
REACTOME MITOTIC G2 G2 M PHASES 8150All SZGR 2.0 genes in this pathway
REACTOME DNA REPLICATION 192110All SZGR 2.0 genes in this pathway
REACTOME MITOTIC PROMETAPHASE 8751All SZGR 2.0 genes in this pathway
LIU SOX4 TARGETS DN 309191All SZGR 2.0 genes in this pathway
DAVICIONI MOLECULAR ARMS VS ERMS UP 332228All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS DN 431263All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460312All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 24HR UP 557331All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN 485334All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER UP 181108All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483336All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS DN 12479All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769437All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS UP 1037673All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP 811508All SZGR 2.0 genes in this pathway
SCHWAB TARGETS OF BMYB POLYMORPHIC VARIANTS DN 1712All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION UP 6955All SZGR 2.0 genes in this pathway
GEORGES CELL CYCLE MIR192 TARGETS 6246All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS UP 424268All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 1 DN 169102All SZGR 2.0 genes in this pathway
GOLDRATH HOMEOSTATIC PROLIFERATION 171102All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
KAAB FAILED HEART ATRIUM DN 14199All SZGR 2.0 genes in this pathway
JIANG AGING CEREBRAL CORTEX UP 3627All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
ZHU CMV 24 HR DN 9164All SZGR 2.0 genes in this pathway
GENTILE UV RESPONSE CLUSTER D6 3725All SZGR 2.0 genes in this pathway
GENTILE UV HIGH DOSE DN 312203All SZGR 2.0 genes in this pathway
ZHU CMV ALL DN 12893All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT DN 165106All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK DN 318220All SZGR 2.0 genes in this pathway
BAELDE DIABETIC NEPHROPATHY DN 434302All SZGR 2.0 genes in this pathway
LY AGING OLD DN 5635All SZGR 2.0 genes in this pathway
DAZARD UV RESPONSE CLUSTER G6 153112All SZGR 2.0 genes in this pathway
SESTO RESPONSE TO UV C5 4636All SZGR 2.0 genes in this pathway
GENTILE UV LOW DOSE DN 6746All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 12HR DN 10164All SZGR 2.0 genes in this pathway
JIANG AGING HYPOTHALAMUS UP 4731All SZGR 2.0 genes in this pathway
OUILLETTE CLL 13Q14 DELETION UP 7440All SZGR 2.0 genes in this pathway
DE YY1 TARGETS DN 9264All SZGR 2.0 genes in this pathway
MATZUK SPERMATID DIFFERENTIATION 3726All SZGR 2.0 genes in this pathway
BONCI TARGETS OF MIR15A AND MIR16 1 9175All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS UP 518299All SZGR 2.0 genes in this pathway
YAGI AML WITH 11Q23 REARRANGED 351238All SZGR 2.0 genes in this pathway
RAMPON ENRICHED LEARNING ENVIRONMENT EARLY DN 1010All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP 548370All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080713All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG BOUND 8D 658397All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-1/206273927461A,m8hsa-miR-1UGGAAUGUAAAGAAGUAUGUA
hsa-miR-206SZUGGAAUGUAAGGAAGUGUGUGG
hsa-miR-613AGGAAUGUUCCUUCUUUGCC
miR-1010401046m8hsa-miR-10aUACCCUGUAGAUCCGAAUUUGUG
hsa-miR-10bUACCCUGUAGAACCGAAUUUGU
miR-1011811871Ahsa-miR-101UACAGUACUGUGAUAACUGAAG
miR-124/50625492555m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-125/351236223691A,m8hsa-miR-125bbrainUCCCUGAGACCCUAACUUGUGA
hsa-miR-125abrainUCCCUGAGACCCUUUAACCUGUG
miR-130/30128682874m8hsa-miR-130abrainCAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrainCAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3pUAGUGCAAUAUUGCUUAUAGGGUUU
miR-1441801871A,m8hsa-miR-144UACAGUAUAGAUGAUGUACUAG
miR-15/16/195/424/497200520121A,m8hsa-miR-15abrainUAGCAGCACAUAAUGGUUUGUG
hsa-miR-16brainUAGCAGCACGUAAAUAUUGGCG
hsa-miR-15bbrainUAGCAGCACAUCAUGGUUUACA
hsa-miR-195SZUAGCAGCACAGAAAUAUUGGC
hsa-miR-424CAGCAGCAAUUCAUGUUUUGAA
hsa-miR-497CAGCAGCACACUGUGGUUUGU
hsa-miR-15abrainUAGCAGCACAUAAUGGUUUGUG
hsa-miR-16brainUAGCAGCACGUAAAUAUUGGCG
hsa-miR-15bbrainUAGCAGCACAUCAUGGUUUACA
hsa-miR-195SZUAGCAGCACAGAAAUAUUGGC
hsa-miR-424CAGCAGCAAUUCAUGUUUUGAA
hsa-miR-497CAGCAGCACACUGUGGUUUGU
hsa-miR-15abrainUAGCAGCACAUAAUGGUUUGUG
hsa-miR-16brainUAGCAGCACGUAAAUAUUGGCG
hsa-miR-15bbrainUAGCAGCACAUCAUGGUUUACA
hsa-miR-195SZUAGCAGCACAGAAAUAUUGGC
hsa-miR-424CAGCAGCAAUUCAUGUUUUGAA
hsa-miR-497CAGCAGCACACUGUGGUUUGU
miR-150228722941A,m8hsa-miR-150UCUCCCAACCCUUGUACCAGUG
miR-1512022081Ahsa-miR-151brainACUAGACUGAAGCUCCUUGAGG
miR-17-5p/20/93.mr/106/519.d287028771A,m8hsa-miR-17-5pCAAAGUGCUUACAGUGCAGGUAGU
hsa-miR-20abrainUAAAGUGCUUAUAGUGCAGGUAG
hsa-miR-106aAAAAGUGCUUACAGUGCAGGUAGC
hsa-miR-106bSZUAAAGUGCUGACAGUGCAGAU
hsa-miR-20bSZCAAAGUGCUCAUAGUGCAGGUAG
hsa-miR-519dCAAAGUGCCUCCCUUUAGAGUGU
miR-181367336791Ahsa-miR-181abrainAACAUUCAACGCUGUCGGUGAGU
hsa-miR-181bSZAACAUUCAUUGCUGUCGGUGGG
hsa-miR-181cbrainAACAUUCAACCUGUCGGUGAGU
hsa-miR-181dbrainAACAUUCAUUGUUGUCGGUGGGUU
miR-1825665731A,m8hsa-miR-182UUUGGCAAUGGUAGAACUCACA
miR-1941391451Ahsa-miR-194UGUAACAGCAACUCCAUGUGGA
miR-20535553561m8hsa-miR-205UCCUUCAUUCCACCGGAGUCUG
miR-21423042310m8hsa-miR-214brainACAGCAGGCACAGACAGGCAG
miR-226676731Ahsa-miR-22brainAAGCUGCCAGUUGAAGAACUGU
miR-223354935551Ahsa-miR-223UGUCAGUUUGUCAAAUACCCC
miR-25/32/92/363/367893899m8hsa-miR-25brainCAUUGCACUUGUCUCGGUCUGA
hsa-miR-32UAUUGCACAUUACUAAGUUGC
hsa-miR-92UAUUGCACUUGUCCCGGCCUG
hsa-miR-367AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZUAUUGCACUCGUCCCGGCCUC
miR-324-5p38441Ahsa-miR-324-5pCGCAUCCCCUAGGGCAUUGGUGU
miR-33026382644m8hsa-miR-330brainGCAAAGCACACGGCCUGCAGAGA
miR-33910391045m8hsa-miR-339UCCCUGUCCUCCAGGAGCUCA
miR-376c4314381A,m8hsa-miR-376cAACAUAGAGGAAAUUCCACG
miR-3811761821Ahsa-miR-381UAUACAAGGGCAAGCUCUCUGU
miR-4961011081A,m8hsa-miR-496AUUACAUGGCCAAUCUC
miR-503200620121Ahsa-miR-503UAGCAGCGGGAACAGUUCUGCAG
miR-5431371431Ahsa-miR-543AAACAUUCGCGGUGCACUUCU
miR-965675731Ahsa-miR-96brainUUUGGCACUAGCACAUUUUUGC