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Pts
Gene Detail
 Symbol
Name
ID
Pts
6-pyruvoyl-tetrahydropterin synthase
MGI:1338783
Feature Type protein coding gene
Genetic Map
Chromosome 9
27.73 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr9:50521618-50528641 bp, - strand
From Ensembl annotation of GRCm38

  7024 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:268  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: PTP_synth
Gene Tree: Pts

Human
homologs
Human Homolog PTS, 6-pyruvoyltetrahydropterin synthase
NCBI Gene ID 5805
neXtProt AC  NX_Q03393
Human Synonyms  PTPS
Human Chr (Location)  11q22.3; chr11:112226365-112233973 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PTS
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
 
Homozygotes for targeted null mutations exhibit reduced dopamine and serotonin levels in brain, increased levels of neopterin, biopterin, and phenylalanine in liver, and lethality within the first week after birth.
 
Human Diseases Modeled Using Mouse Pts (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Pts interacts with 68 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process tetrahydrobiopterin biosynthetic process
Component cytoplasm, mitochondrion
Function 6-pyruvoyltetrahydropterin synthase activity, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (133)    Tissues (121)    Images (21)
Theiler Stages: 11, 13, 19, 22, 23, 28
Assay TypeResults
RNA in situ 133
cDNA source data(59)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(63) Genomic(3) cDNA(60)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000032067 (Evidence)
Entrez Gene19286 (Evidence)
UniGene35856
DFCITC1578912, TC1614503
DoTSDT.101713873, DT.55100202
NIA Mouse Gene IndexU030839
EC4.2.3.12
Consensus CDS ProjectCCDS23164.1
International Mouse Knockout Project StatusPts
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032067 Ensembl Gene Model | MGI Sequence Detail 7024 C57BL/6J ±  kb
transcript ENSMUST00000034570 Ensembl | MGI Sequence Detail 1035 Not Applicable 
polypeptide ENSMUSP00000034570 Ensembl | MGI Sequence Detail 144 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(6) UniProt(1)
Polymorphisms SNPs within 2kb(82 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR022470 6-pyruvoyl tetrahydropterin synthase, cysteine active site
InterPro IPR022469 6-pyruvoyl tetrahydropterin synthase, histidine active site
InterPro IPR007115 6-pyruvoyl tetrahydropterin synthase/QueD family protein
Protein Ontology PR:000013485 6-pyruvoyl tetrahydrobiopterin synthase
References (Earliest) J:52326 Turri MO, et al., Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene. Biol Chem. 1998 Dec;379(12):1441-7
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(39)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory