Pts 6-pyruvoyl-tetrahydropterin synthase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ptsprovided by RGD
Official Full Name: 6-pyruvoyl-tetrahydropterin synthaseprovided by RGD
Primary source: RGD:68367
See related: EnsemblRapid:ENSRNOG00000009250 AllianceGenome:RGD:68367
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables 6-pyruvoyltetrahydropterin synthase activity. Predicted to act upstream of or within tetrahydrobiopterin biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia A and phenylketonuria. Orthologous to human PTS (6-pyruvoyltetrahydropterin synthase). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in Kidney (RPKM 110.2), Liver (RPKM 64.4) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 8q23

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	8	NC_086026.1 (59767234..59774265, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	8	NC_051343.1 (50870838..50877869, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	8	NC_005107.4 (54954261..54961271, complement)

Chromosome 8 - NC_086026.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables 6-pyruvoyltetrahydropterin synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables 6-pyruvoyltetrahydropterin synthase activity	IEA Inferred from Electronic Annotation more info
enables 6-pyruvoyltetrahydropterin synthase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in tetrahydrobiopterin biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within tetrahydrobiopterin biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in tetrahydrobiopterin biosynthetic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 6-pyruvoyl tetrahydrobiopterin synthase

Names: 6-pyruvoyltetrahydropterin synthase; PTP synthase; PTPS

NP_001396444.1

EC 4.2.3.12

NP_001396445.1

EC 4.2.3.12

NP_058916.1

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.

mRNA and Protein(s)

NM_001409515.1 → NP_001396444.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000008

UniProtKB/TrEMBL

A6J4D5
NM_001409516.1 → NP_001396445.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 3

Status: VALIDATED

Source sequence(s)

JAXUCZ010000008

UniProtKB/TrEMBL

A6J4D6
NM_017220.2 → NP_058916.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 1

See identical proteins and their annotated locations for NP_058916.1

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000008

UniProtKB/Swiss-Prot

P27213

UniProtKB/TrEMBL

A0A8I6AM88, A6J4D4

Related

ENSRNOP00000012434.1, ENSRNOT00000012434.5

Conserved Domains (1) summary

cd00470
Location:17 → 144

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 ...