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
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

Genomic context

Location:: 11q23.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	11	NC_000011.10 (112226428..112233973)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (112097088..112104696)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

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].
We suggest that the serum prolactin level may be a more sensitive marker than the CSF HVA level to guide the dose adjustment of L-Dopa/carbidopa in the management of patients with PTPS deficiency.
Title: A 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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
Title: Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.
Human PTS was efficiently expressed in noradrenergic regions but only in a small number of dopaminergic neurons.
Title: Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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-tetrahydropterin 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

Homology

Homologs of the PTS gene: The PTS gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 298 organisms have orthologs with human gene PTS
Orthologs

Gene Ontology Provided by GOA

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

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

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

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

Download

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

Q03393

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