PFAS (phosphoribosylformylglycinamidine synthase)

2014-11-01  

Identity

HGNC
PFAS
LOCATION
17p13.1
LOCUSID
5198
ALIAS
FGAMS,FGAR-AT,FGARAT,GATD8,PURL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5198
MIM: 602133
HGNC: 8863
Ensembl: ENSG00000178921

Variants:

dbSNP: 5198
ClinVar: 5198
TCGA: ENSG00000178921
COSMIC: PFAS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178921ENST00000314666O15067
ENSG00000178921ENST00000546020H0YGH1
ENSG00000178921ENST00000578979J3KTQ5
ENSG00000178921ENST00000580356J3QSG0
ENSG00000178921ENST00000581242J3KTL4
ENSG00000178921ENST00000583059J3KT98
ENSG00000178921ENST00000584044J3QSH6
ENSG00000178921ENST00000585183J3QL39
ENSG00000178921ENST00000625942J3QSG0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
Inosine monophosphate biosynthesis, PRPP + glutamine => IMPKEGGhsa_M00048
Inosine monophosphate biosynthesis, PRPP + glutamine => IMPKEGGM00048
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine ribonucleoside monophosphate biosynthesisREACTOMER-HSA-73817

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
372281852023NSUN2-mediated m(5) C RNA methylation dictates retinoblastoma progression through promoting PFAS mRNA stability and expression.10
372281852023NSUN2-mediated m(5) C RNA methylation dictates retinoblastoma progression through promoting PFAS mRNA stability and expression.10
324851482020ERK2 Phosphorylates PFAS to Mediate Posttranslational Control of De Novo Purine Synthesis.35
324851482020ERK2 Phosphorylates PFAS to Mediate Posttranslational Control of De Novo Purine Synthesis.35
309878222019Protein interactome of the deamidase phosphoribosylformylglycinamidine synthetase (PFAS) by LC-MS/MS.4
309878222019Protein interactome of the deamidase phosphoribosylformylglycinamidine synthetase (PFAS) by LC-MS/MS.4
293373482018Expression of the purine biosynthetic enzyme phosphoribosyl formylglycinamidine synthase in neurons.7
293373482018Expression of the purine biosynthetic enzyme phosphoribosyl formylglycinamidine synthase in neurons.7
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

PFAS (phosphoribosylformylglycinamidine synthase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71845/haematological-explorer/welcome