PAFAH1B3 (platelet activating factor acetylhydrolase 1b catalytic subunit 3)

2012-11-01  

Identity

HGNC
PAFAH1B3
LOCATION
19q13.2
LOCUSID
5050
ALIAS
PAFAHG
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5050
MIM: 603074
HGNC: 8576
Ensembl: ENSG00000079462

Variants:

dbSNP: 5050
ClinVar: 5050
TCGA: ENSG00000079462
COSMIC: PAFAH1B3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000079462ENST00000262890Q15102
ENSG00000079462ENST00000262890A0A024R0L6
ENSG00000079462ENST00000538771Q15102
ENSG00000079462ENST00000538771A0A024R0L6
ENSG00000079462ENST00000594989M0R1K3
ENSG00000079462ENST00000595530M0R389
ENSG00000079462ENST00000596265M0QZT2
ENSG00000079462ENST00000599778M0QXS6
ENSG00000079462ENST00000601865M0R323

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
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
224619102012FOXM1 induces a global methylation signature that mimics the cancer epigenome in head and neck squamous cell carcinoma.27
249540062014Metabolic profiling reveals PAFAH1B3 as a critical driver of breast cancer pathogenicity.16
196226342009Opposing effects of Ndel1 and alpha1 or alpha2 on cytoplasmic dynein through competitive binding to Lis1.12
259459742015Activity-Based Protein Profiling of Oncogene-Driven Changes in Metabolism Reveals Broad Dysregulation of PAFAH1B2 and 1B3 in Cancer.12
218441892011Intracellular erythrocyte platelet-activating factor acetylhydrolase I inactivates aspirin in blood.9

Citation

Dessen P

PAFAH1B3 (platelet activating factor acetylhydrolase 1b catalytic subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53031/pafah1b3