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PTS

GENERAL INFORMATION

Gene name

 PTS

Gene description

 6-pyruvoyltetrahydropterin synthase

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA001481
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 PTS (HGNC Symbol)

Synonyms

 PTPS

Description

 6-pyruvoyltetrahydropterin synthase (HGNC Symbol)

Entrez gene summary

 The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]

Chromosome

 11

Cytoband

 q23.1

Chromosome location (bp)

 112226365 - 112269955

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000150787 (version 83.38)

Entrez gene

 5805

UniProt

 Q03393 (UniProt - Evidence at protein level)

neXtProt

 NX_Q03393

Antibodypedia

 PTS antibodies

PROTEIN BROWSER
PTS-001
PTS-005
PTS-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PTS-001
ENSP00000280362
ENST00000280362
Q03393 [Direct mapping]
6-pyruvoyl tetrahydrobiopterin synthase
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Enzymes
   ENZYME proteins
   Lyases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003874 [6-pyruvoyltetrahydropterin synthase activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006520 [cellular amino acid metabolic process]
GO:0006729 [tetrahydrobiopterin biosynthetic process]
GO:0007417 [central nervous system development]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0044281 [small molecule metabolic process]
GO:0046209 [nitric oxide metabolic process]
GO:0046872 [metal ion binding]
GO:0050999 [regulation of nitric-oxide synthase activity]
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 145 aa
16.4 kDa 		No 0
PTS-005
ENSP00000431750
ENST00000525803
E9PJM0 [Direct mapping]
6-pyruvoyl tetrahydrobiopterin synthase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003874 [6-pyruvoyltetrahydropterin synthase activity]
GO:0006729 [tetrahydrobiopterin biosynthetic process]
Show all
 61 aa
6.7 kDa 		No 0
PTS-008
ENSP00000434688
ENST00000524931
E9PNN3 [Direct mapping]
6-pyruvoyl tetrahydrobiopterin synthase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003874 [6-pyruvoyltetrahydropterin synthase activity]
GO:0006729 [tetrahydrobiopterin biosynthetic process]
Show all
 77 aa
8.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.