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

Gene ID: 5805, updated on 7-Jul-2019

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

Genomic context

See PTS in Genome Data Viewer
Location:
11q23.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 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_000011.10Genomic Context describing neighboring genes Neighboring gene beta-carotene oxygenase 2 Neighboring gene mitochondrial ribosomal protein S36 pseudogene 4 Neighboring gene ribosomal protein S12 pseudogene 21 Neighboring gene ribosomal protein S6 pseudogene 16 Neighboring gene placenta expressed transcript 1 Neighboring gene uncharacterized LOC100132686

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ97081

Gene Ontology Provided by GOA

Function Evidence Code Pubs
6-pyruvoyltetrahydropterin synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
6-pyruvoyl tetrahydrobiopterin synthase
Names
PTP synthase
NP_000308.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_008743.1 RefSeqGene

    Range
    5001..12609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000317.3NP_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:11145
    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:13145
    PTPS; 6-pyruvoyl tetrahydropterin synthase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    112226428..112233973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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