Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5048
Gene name Gene Name - the full gene name approved by the HGNC.
Platelet activating factor acetylhydrolase 1b regulatory subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PAFAH1B1
Synonyms (NCBI Gene) Gene synonyms aliases
LIS1, LIS2, MDCR, MDS, NudF, PAFAH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LIS1, LIS2, MDS
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle TAS
GO:0000132 Process Establishment of mitotic spindle orientation IBA 21873635
GO:0000132 Process Establishment of mitotic spindle orientation IMP 11056532
GO:0000226 Process Microtubule cytoskeleton organization ISS 10729324
GO:0000235 Component Astral microtubule IDA 11940666
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601545 8574 ENSG00000007168
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
11502906, 10441340, 14581661
Kidney disease Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Lissencephaly Lissencephaly, Classical Lissencephaly, Lissencephaly due to LIS1 mutation rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489
View all (183 more)
11502906, 10441340, 15007136, 11115846, 18285425, 26633545, 9063735, 19667223, 14581661, 11163258, 12885786, 25140959, 15173193
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 29942085 ClinVar
Spastic tetraparesis Spastic tetraparesis ClinVar
Neuroticism Neuroticism GWAS
Anxiety Disorder Anxiety Disorder GWAS
Associations from Text Mining
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