Gene Gene information from NCBI Gene database.
Entrez ID 5048
Gene name Platelet activating factor acetylhydrolase 1b regulatory subunit 1
Gene symbol PAFAH1B1
Synonyms (NCBI Gene)
LIS1LIS2MDCRMDSNudFPAFAH
Chromosome 17
Chromosome location 17p13.3
Summary 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
SNPs SNP information provided by dbSNP.
107
SNP ID Visualize variation Clinical significance Consequence
rs113994198 A>-,AA Pathogenic 5 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs113994200 G>-,GG Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant
rs113994202 T>C Pathogenic, likely-pathogenic Genic downstream transcript variant, intron variant
rs113994203 G>A Pathogenic Splice donor variant, genic downstream transcript variant
rs121434482 A>G Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1036
miRTarBase ID miRNA Experiments Reference
MIRT020051 hsa-miR-375 Microarray 20215506
MIRT024898 hsa-miR-215-5p Microarray 19074876
MIRT026749 hsa-miR-192-5p Microarray 19074876
MIRT027380 hsa-miR-101-3p Sequencing 20371350
MIRT031314 hsa-miR-18a-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
150
GO ID Ontology Definition Evidence Reference
GO:0000132 Process Establishment of mitotic spindle orientation IBA
GO:0000132 Process Establishment of mitotic spindle orientation IEA
GO:0000132 Process Establishment of mitotic spindle orientation IMP 11056532
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0000226 Process Microtubule cytoskeleton organization ISS 10729324
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601545 8574 ENSG00000007168
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43034
Protein name Platelet-activating factor acetylhydrolase IB subunit beta (Lissencephaly-1 protein) (LIS-1) (PAF acetylhydrolase 45 kDa subunit) (PAF-AH 45 kDa subunit) (PAF-AH alpha) (PAFAH alpha)
Protein function Regulatory subunit (beta subunit) of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)), an enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and participates in P
PDB 7MT1 , 8DYU , 8DYV , 8FDT , 8FDU , 8PQW , 8PQY , 8PQZ , 8PTK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08513 LisH 9 35 LisH Domain
PF00400 WD40 100 136 WD domain, G-beta repeat Repeat
PF00400 WD40 140 178 WD domain, G-beta repeat Repeat
PF00400 WD40 182 220 WD domain, G-beta repeat Repeat
PF00400 WD40 224 262 WD domain, G-beta repeat Repeat
PF00400 WD40 266 324 WD domain, G-beta repeat Repeat
PF00400 WD40 328 366 WD domain, G-beta repeat Repeat
PF00400 WD40 370 408 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Fairly ubiquitous expression in both the frontal and occipital areas of the brain.
Sequence
Sequence length 410
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ether lipid metabolism
Metabolic pathways
  Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
RHO GTPases Activate Formins
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
AURKA Activation by TPX2
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
196
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal cerebral morphology Likely pathogenic rs2151660984, rs2151664099 RCV002275271
RCV002275915
Abnormal cortical gyration Pathogenic rs1334642659 RCV001391270
Intellectual disability Likely pathogenic; Pathogenic rs2151660977, rs121434489, rs113994198 RCV001526557
RCV001255338
RCV001255331
Lissencephaly Pathogenic; Likely pathogenic rs587784241, rs121434489, rs113994202, rs2068649745, rs2069103320, rs2069226261, rs2069227227, rs2069358559 RCV001291190
RCV001291182
RCV001291184
RCV001291181
RCV001291183
RCV001291186
RCV001291187
RCV001291189
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance; - rs2544124867, rs145845266 RCV005928597
RCV006113647
Cholangiocarcinoma Benign rs7223411 RCV005904100
Classic lissencephaly Likely benign rs2069359491 RCV005863665
Lissencephaly/Subcortical Band Heterotopia Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs886052711, rs886052716, rs886052730, rs886052706, rs55976318, rs760380019, rs538397985, rs886052713, rs886052721, rs149797541, rs58458769, rs886052705 RCV000348282
RCV000351878
RCV000360747
RCV000366540
RCV000304898
RCV000403366
RCV000404423
RCV000353512
RCV000386334
RCV000393722
RCV000351705
RCV000309562
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33754896
Arterial Occlusive Diseases Associate 10917985
Brain Diseases Associate 23813913, 38364333
Carcinoma Hepatocellular Associate 34348664
Central Nervous System Vascular Malformations Associate 12621583, 12885786, 35328531, 7573359
Chromosome 17 ring Associate 39513527
Chronic Traumatic Encephalopathy Associate 29338612
Classical Lissencephalies and Subcortical Band Heterotopias Associate 10727864, 11163260, 12621583, 16642511, 17997972, 18384621, 19050731, 21239872, 23035971, 25140959, 28380362, 28440899, 37510238, 38364333, 39709006
Classical Lissencephalies and Subcortical Band Heterotopias Inhibit 39513527, 7573359
Coronary Artery Disease Associate 39445733