PTS (6-pyruvoyltetrahydropterin synthase)

2014-11-01  

Identity

HGNC
PTS
LOCATION
11q23.1
LOCUSID
5805
ALIAS
PTPS

Other Information

Locus ID:

NCBI: 5805
MIM: 612719
HGNC: 9689
Ensembl: ENSG00000150787

Variants:

dbSNP: 5805
ClinVar: 5805
TCGA: ENSG00000150787
COSMIC: PTS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150787ENST00000280362Q03393
ENSG00000150787ENST00000524931E9PNN3
ENSG00000150787ENST00000525803E9PJM0
ENSG00000150787ENST00000528679E9PKY8
ENSG00000150787ENST00000531673E9PKY8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Folate biosynthesisKEGGko00790
Folate biosynthesisKEGGhsa00790
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nitric oxideREACTOMER-HSA-202131
eNOS activation and regulationREACTOMER-HSA-203765
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulationREACTOMER-HSA-1474151

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
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
194911462009Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.35
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
193606912008Examination of association to autism of common genetic variationin genes related to dopamine.15
145511502003Critical role of interleukin-1beta for transcriptional regulation of endothelial 6-pyruvoyltetrahydropterin synthase.8
161350922005Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.7
172701572007Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.7
196741212009Examination of tetrahydrobiopterin pathway genes in autism.6
222375892012Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.4
175905512008A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.3
119163142001Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.2

Citation

Dessen P

PTS (6-pyruvoyltetrahydropterin synthase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72397/pts