PTS

Protein identityUniProt · HPA

UniProt accession

Q03393

Gene

PTS

Ensembl

ENSG00000150787

Chromosome

11

Canonical length

145 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homohexamer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

145 residues, UniProt reviewed canonical sequence.

>Q03393|PTS
     1  MSTEGGGRRC QAQVSRRISF SASHRLYSKF LSDEENLKLF GKCNNPNGHG HNYKVVVTVH
    61  GEIDPATGMV MNLADLKKYM EEAIMQPLDH KNLDMDVPYF ADVVSTTENV AVYIWDNLQK
   121  VLPVGVLYKV KVYETDNNIV VYKGE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

64 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTS.

Disease | AllUniProt

Conditions PTS is implicated in, by any mechanism.

• Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) MIM:261640

Disease | GeneticClinVar

105 pathogenic / likely-pathogenic of 367 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
• Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
• PTS-related disorder
• GTP cyclohydrolase I deficiency with hyperphenylalaninemia
• Nonpapillary renal cell carcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.69

gnomAD pLI

0

gnomAD missense Z

0.13

DepMap mean gene effect

0.15

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amino acid metabolic process
• central nervous system development
• tetrahydrobiopterin biosynthetic process

Molecular functions

• identical protein binding
• metal ion binding
• 6-pyruvoyltetrahydropterin synthase activity

Cellular components

• cytoplasm
• cytosol
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• 6-pyruvoyl tetrahydropterin synthase/QueD family
• 6-pyruvoyl tetrahydropterin synthase, histidine active site
• 6-pyruvoyl tetrahydropterin synthase, cysteine active site
• 6-pyruvoyl tetrahydropterin synthase/QueD superfamily
• 6-pyruvoyl tetrahydropterin synthase

KeywordsUniProt

• Lyase
• Metal-binding
• Phenylketonuria
• Phosphoprotein
• Tetrahydrobiopterin biosynthesis
• Zinc