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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
293373482018Expression of the purine biosynthetic enzyme phosphoribosyl formylglycinamidine synthase in neurons.0
309878222019Protein interactome of the deamidase phosphoribosylformylglycinamidine synthetase (PFAS) by LC-MS/MS.0

Citation

Dessen P

PFAS (phosphoribosylformylglycinamidine synthase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71845/pfas