PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)

2011-08-01  

Identity

HGNC
PAFAH1B1
LOCATION
17p13.3
LOCUSID
5048
ALIAS
LIS1,LIS2,MDCR,MDS,NudF,PAFAH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5048
MIM: 601545
HGNC: 8574
Ensembl: ENSG00000007168

Variants:

dbSNP: 5048
ClinVar: 5048
TCGA: ENSG00000007168
COSMIC: PAFAH1B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000007168ENST00000397195P43034
ENSG00000007168ENST00000570400I3L384
ENSG00000007168ENST00000574468I3L3N5
ENSG00000007168ENST00000576586I3L495

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Ether lipid metabolismKEGGko00565
Ether lipid metabolismKEGGhsa00565
Metabolic pathwaysKEGGhsa01100
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
M PhaseREACTOMER-HSA-68886
Mitotic PrometaphaseREACTOMER-HSA-68877
Resolution of Sister Chromatid CohesionREACTOMER-HSA-2500257
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Separation of Sister ChromatidsREACTOMER-HSA-2467813
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
AURKA Activation by TPX2REACTOMER-HSA-8854518
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-independent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811436

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383643332024Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.1
385472892024Molecular mechanism of dynein-dynactin complex assembly by LIS1.3
383643332024Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.1
385472892024Molecular mechanism of dynein-dynactin complex assembly by LIS1.3
362745872023Lis1-dynein drives corona compaction and limits erroneous microtubule attachment at kinetochores.3
362745872023Lis1-dynein drives corona compaction and limits erroneous microtubule attachment at kinetochores.3
355679552022Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.3
361046622022NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways.0
355679552022Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.3
361046622022NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways.0
330266652021Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray.1
335650822021Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains.8
330266652021Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray.1
335650822021Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains.8
323415492020LIS1 promotes the formation of activated cytoplasmic dynein-1 complexes.60

Citation

Dessen P

PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52321/pafah1b1-(platelet-activating-factor-acetylhydrolase-1b-regulatory-subunit-1)