PTS 6-pyruvoyltetrahydropterin synthase [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTSprovided by HGNC
Official Full Name: 6-pyruvoyltetrahydropterin synthaseprovided by HGNC
Primary source: HGNC:HGNC:9689
See related: Ensembl:ENSG00000150787 MIM:612719; AllianceGenome:HGNC:9689
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PTPS
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]
Expression: Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 11.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (112226428..112233973)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (112236776..112368893)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (112097151..112104696)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BH4-deficient hyperphenylalaninemia in Russia.
Title: BH4-deficient hyperphenylalaninemia in Russia.
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
Title: Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies.
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Title: Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Title: Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Severe neurological impairment from BH4 deficiency could be prevented by newborn screening for hyperphenylalaninemia (HPA) and proper metabolic management.
Title: Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.
A total of 43 mutations were identified in the PTS gene in a screen of East Asian populations, comprising 22 previously reported mutations and 21 new discovered mutations.
Title: Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
The mutant characterization of PTPS gene was coincident with other early studies in Chinese. The novel mutation L127F was considered as a pathogenetic mutation and associated with severe clinical phenotype.
Title: [Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Examination of tetrahydrobiopterin pathway genes in autism.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Hyperphenylalaninemia may be caused by deficiency of Phe hydroxylase or by deficiency of co-factor BH(4).
Title: [Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients].

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency MedGen: C0878676 OMIM: 261640 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PTPS (e-PCR)
- UniSTS:13153

GDB:574088 (e-PCR)
- UniSTS:157800

GDB:574111 (e-PCR)
- UniSTS:157801

SHGC-12504 (e-PCR)
- UniSTS:21112

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 6-pyruvoyltetrahydropterin synthase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amino acid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in tetrahydrobiopterin biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: 6-pyruvoyl tetrahydrobiopterin synthase

Names: PTP synthase

NP_000308.1

EC 4.2.3.12

XP_054225536.1

EC 4.2.3.12

XP_054225537.1

EC 4.2.3.12

XP_054225538.1

EC 4.2.3.12

XP_054225539.1

EC 4.2.3.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008743.1 RefSeqGene

Range

5064..12609

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000317.3 → NP_000308.1 6-pyruvoyl tetrahydrobiopterin synthase

See identical proteins and their annotated locations for NP_000308.1

Status: REVIEWED

Source sequence(s)

AP002884, BC009686, CF529329

Consensus CDS

CCDS8359.1

UniProtKB/Swiss-Prot

B0YJ87, Q03393, Q8WVG8

UniProtKB/TrEMBL

A0A8E7SLS1, A0A8E7SPB8, A0A8H2S6I5

Related

ENSP00000280362.3, ENST00000280362.8

Conserved Domains (2) summary

cd00470
Location:11 → 145

PTPS; 6-pyruvoyl tetrahydropterin synthase (PTPS). Folate derivatives are essential cofactors in the biosynthesis of purines, pyrimidines, and amino acids, as well as formyl-tRNA. Mammalian cells are able to utilize pre-formed folates after uptake by a ...

pfam01242
Location:13 → 145

PTPS; 6-pyruvoyl tetrahydropterin synthase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

112226428..112233973

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

112236776..112368893

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369564.1 → XP_054225539.1 6-pyruvoyl tetrahydrobiopterin synthase isoform X3

UniProtKB/Swiss-Prot

B0YJ87, Q03393, Q8WVG8
XM_054369563.1 → XP_054225538.1 6-pyruvoyl tetrahydrobiopterin synthase isoform X3

UniProtKB/Swiss-Prot

B0YJ87, Q03393, Q8WVG8
XM_054369562.1 → XP_054225537.1 6-pyruvoyl tetrahydrobiopterin synthase isoform X2
XM_054369561.1 → XP_054225536.1 6-pyruvoyl tetrahydrobiopterin synthase isoform X1