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Gene: PTS (6-pyruvoyltetrahydropterin synthase) Homo sapiens
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Symbol: PTS
Name: 6-pyruvoyltetrahydropterin synthase
Description: Exhibits identical protein binding activity. Predicted to be involved in cellular amino acid metabolic process; central nervous system development; and cofactor metabolic process. Localizes to the mitochondrion. Implicated in Bh4-deficient hyperphenylalaninemia A and phenylketonuria.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 6-pyruvoyl tetrahydrobiopterin synthase; 6-pyruvoyl-tetrahydropterin synthase; FLJ97081; PTP synthase; PTPS
Orthologs:
Mus musculus (house mouse) : Pts (6-pyruvoyl-tetrahydropterin synthase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pts (6-pyruvoyl-tetrahydropterin synthase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pts (6-pyruvoyltetrahydropterin synthase)
Pan paniscus (bonobo/pygmy chimpanzee) : PTS (6-pyruvoyltetrahydropterin synthase)
Canis lupus familiaris (dog) : PTS (6-pyruvoyltetrahydropterin synthase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pts (6-pyruvoyltetrahydropterin synthase)
Sus scrofa (pig) : PTS (6-pyruvoyltetrahydropterin synthase)
Chlorocebus sabaeus (green monkey) : PTS (6-pyruvoyltetrahydropterin synthase)
Heterocephalus glaber (naked mole-rat) : Pts (6-pyruvoyltetrahydropterin synthase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl11112,226,367 - 112,269,955 (+)Ensembl
GRCh3811112,226,428 - 112,233,973 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711112,097,088 - 112,104,696 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611111,602,309 - 111,609,903 (+)NCBINCBI36hg18NCBI36
Build 3411111,602,308 - 111,609,903NCBI
Celera11109,250,329 - 109,257,937 (+)NCBI
Cytogenetic Map11q23.1NCBI
HuRef11108,022,655 - 108,030,262 (+)NCBIHuRef
CHM1_111111,980,551 - 111,988,158 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PTS
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 68525
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.