pts 6-pyruvoyltetrahydropterin synthase [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: ptsprovided by ZNC
Official Full Name: 6-pyruvoyltetrahydropterin synthaseprovided by ZNC
Primary source: ZFIN:ZDB-GENE-070615-3
See related: AllianceGenome:ZFIN:ZDB-GENE-070615-3
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: ptps; zgc:162276
Summary: Predicted to enable 6-pyruvoyltetrahydropterin synthase activity and metal ion binding activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. 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]
Annotation information: Annotation category: partial on reference assembly
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	12	NC_007123.7 (311947..314992, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	12	NC_007123.6 (306006..309051, complement)

Chromosome 12 - NC_007123.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

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 ZFIN

Function	Evidence Code	Pubs
enables 6-pyruvoyltetrahydropterin synthase activity	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in tetrahydrobiopterin biosynthetic process	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 6-pyruvoyl tetrahydrobiopterin synthase

NP_001092237.1

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_001098767.1 → NP_001092237.1 6-pyruvoyl tetrahydrobiopterin synthase

See identical proteins and their annotated locations for NP_001092237.1

Status: PROVISIONAL

Source sequence(s)

BC142595

UniProtKB/TrEMBL

A5PKS5

Conserved Domains (2) summary

cd00470
Location:5 → 139

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:8 → 139

PTPS; 6-pyruvoyl tetrahydropterin synthase