Pts 6-pyruvoyl-tetrahydropterin synthase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ptsprovided by MGI
Official Full Name: 6-pyruvoyl-tetrahydropterin synthaseprovided by MGI
Primary source: MGI:MGI:1338783
See related: Ensembl:ENSMUSG00000032067 AllianceGenome:MGI:1338783
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PTPS
Summary: Enables 6-pyruvoyltetrahydropterin synthase activity and identical protein binding activity. Acts upstream of or within tetrahydrobiopterin biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study BH4-deficient hyperphenylalaninemia A. 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, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 25.3), placenta adult (RPKM 13.9) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A5.3; 9 27.73 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (50432917..50440017, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (50521617..50528716, complement)

Chromosome 9 - NC_000075.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

biopterin contents in the brains of these knock-out mice were moderately decreased from postnatal day 0 (P0) and remained constant up to P21
Title: Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain.
ptps has a role in 6-pyruvoyltetrahydropterin synthase- or BH4-biosynthetic activity with IGF-1
Title: Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within tetrahydrobiopterin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor 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: PTP synthase

NP_001351417.1

EC 4.2.3.12

NP_001351418.1

EC 4.2.3.12

NP_001351419.1

EC 4.2.3.12

NP_001396111.1

EC 4.2.3.12

NP_001396112.1

EC 4.2.3.12

NP_001396113.1

EC 4.2.3.12

NP_001396114.1

EC 4.2.3.12

NP_001396115.1

EC 4.2.3.12

NP_001396116.1

EC 4.2.3.12

NP_001396117.1

EC 4.2.3.12

NP_001396118.1

EC 4.2.3.12

NP_001396119.1

EC 4.2.3.12

NP_001396120.1

EC 4.2.3.12

NP_001396121.1

EC 4.2.3.12

NP_001396122.1

EC 4.2.3.12

NP_001396123.1

EC 4.2.3.12

NP_001396124.1

EC 4.2.3.12

NP_001396125.1

EC 4.2.3.12

NP_001396126.1

EC 4.2.3.12

NP_001396127.1

EC 4.2.3.12

NP_001396128.1

EC 4.2.3.12

NP_001396129.1

EC 4.2.3.12

NP_001396130.1

EC 4.2.3.12

NP_001396131.1

EC 4.2.3.12

NP_001396132.1

EC 4.2.3.12

NP_001396133.1

EC 4.2.3.12

NP_001396134.1

EC 4.2.3.12

NP_001396135.1

EC 4.2.3.12

NP_001396136.1

EC 4.2.3.12

NP_001396138.1

EC 4.2.3.12

NP_001396139.1

EC 4.2.3.12

NP_001396140.1

EC 4.2.3.12

NP_001396143.1

EC 4.2.3.12

NP_035350.1

EC 4.2.3.12

XP_036010607.1

EC 4.2.3.12

XP_036010610.1

EC 4.2.3.12

XP_036010611.1

EC 4.2.3.12

XP_036010614.1

EC 4.2.3.12

XP_036010615.1

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_001364488.1 → NP_001351417.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

BC019660, BY270052

Consensus CDS

CCDS90561.1

UniProtKB/TrEMBL

A0A1L1SRN0

Related

ENSMUSP00000149552.2, ENSMUST00000215416.2

Conserved Domains (1) summary

cl00263
Location:1 → 77

TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...
NM_001364489.1 → NP_001351418.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

Consensus CDS

CCDS90561.1

UniProtKB/TrEMBL

A0A1L1SRN0

Related

ENSMUSP00000150693.2, ENSMUST00000214873.2

Conserved Domains (1) summary

cl00263
Location:1 → 77

TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...
NM_001364490.1 → NP_001351419.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

Consensus CDS

CCDS90561.1

UniProtKB/TrEMBL

A0A1L1SRN0

Conserved Domains (1) summary

cl00263
Location:1 → 77

TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...
NM_001409182.1 → NP_001396111.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409183.1 → NP_001396112.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409184.1 → NP_001396113.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409185.1 → NP_001396114.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409186.1 → NP_001396115.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409187.1 → NP_001396116.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409188.1 → NP_001396117.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409189.1 → NP_001396118.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409190.1 → NP_001396119.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409191.1 → NP_001396120.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409192.1 → NP_001396121.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409193.1 → NP_001396122.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409194.1 → NP_001396123.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409195.1 → NP_001396124.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409196.1 → NP_001396125.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409197.1 → NP_001396126.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409198.1 → NP_001396127.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409199.1 → NP_001396128.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409200.1 → NP_001396129.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409201.1 → NP_001396130.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409202.1 → NP_001396131.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 2

Status: VALIDATED

Source sequence(s)

AC127254

UniProtKB/TrEMBL

A0A1L1SRN0
NM_001409203.1 → NP_001396132.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 3

Status: VALIDATED

Source sequence(s)

AC127254
NM_001409204.1 → NP_001396133.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 3

Status: VALIDATED

Source sequence(s)

AC127254
NM_001409205.1 → NP_001396134.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 3

Status: VALIDATED

Source sequence(s)

AC127254
NM_001409206.1 → NP_001396135.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 3

Status: VALIDATED

Source sequence(s)

AC127254
NM_001409207.1 → NP_001396136.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 3

Status: VALIDATED

Source sequence(s)

AC127254
NM_001409209.1 → NP_001396138.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 4

Status: VALIDATED

Source sequence(s)

AC127254
NM_001409210.1 → NP_001396139.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 5

Status: VALIDATED

Source sequence(s)

AC127254
NM_001409211.1 → NP_001396140.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 6

Status: VALIDATED

Source sequence(s)

AC127254
NM_001409214.1 → NP_001396143.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 8

Status: VALIDATED

Source sequence(s)

AC127254
NM_011220.3 → NP_035350.1 6-pyruvoyl tetrahydrobiopterin synthase isoform 1

See identical proteins and their annotated locations for NP_035350.1

Status: VALIDATED

Source sequence(s)

BC029013, BY310869

Consensus CDS

CCDS23164.1

UniProtKB/Swiss-Prot

Q3UIB6, Q9R1Z7, Q9Z2N2

Related

ENSMUSP00000034570.6, ENSMUST00000034570.7

Conserved Domains (2) 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 ...

pfam01242
Location:17 → 144

PTPS; 6-pyruvoyl tetrahydropterin synthase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

50432917..50440017 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036154722.1 → XP_036010615.1 6-pyruvoyl tetrahydrobiopterin synthase isoform X2

UniProtKB/TrEMBL

A0A1L1SRN0

Conserved Domains (1) summary

cl00263
Location:1 → 77

TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...
XM_036154718.1 → XP_036010611.1 6-pyruvoyl tetrahydrobiopterin synthase isoform X2

UniProtKB/TrEMBL

A0A1L1SRN0

Conserved Domains (1) summary

cl00263
Location:1 → 77

TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...
XM_036154717.1 → XP_036010610.1 6-pyruvoyl tetrahydrobiopterin synthase isoform X2

UniProtKB/TrEMBL

A0A1L1SRN0

Conserved Domains (1) summary

cl00263
Location:1 → 77

TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...
XM_036154721.1 → XP_036010614.1 6-pyruvoyl tetrahydrobiopterin synthase isoform X2

UniProtKB/TrEMBL

A0A1L1SRN0

Conserved Domains (1) summary

cl00263
Location:1 → 77

TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...
XM_036154714.1 → XP_036010607.1 6-pyruvoyl tetrahydrobiopterin synthase isoform X1

Conserved Domains (1) summary

cl00263
Location:8 → 91

TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001409212.1: Suppressed sequence

Description

NM_001409212.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.