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 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; chr11:112097088-112104696 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PTS

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

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)   

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 Type	Results
RNA in situ	133

cDNA source data(59)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(63) Genomic(3) cDNA(60)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000032067 (Evidence)
Entrez Gene	19286 (Evidence)
UniGene	35856
DFCI	TC1578912, TC1614503
DoTS	DT.101713873, DT.55100202
NIA Mouse Gene Index	U030839
EC	4.2.3.12
Consensus CDS Project	CCDS23164.1
International Mouse Knockout Project Status	Pts

Sequences

Length	Strain/Species
genomic	ENSMUSG00000032067	Ensembl Gene Model | MGI Sequence Detail	7024	C57BL/6J
transcript	ENSMUST00000034570	Ensembl | MGI Sequence Detail	1035	Not Applicable
polypeptide	ENSMUSP00000034570	Ensembl | MGI Sequence Detail	144	Not Applicable

All sequences(24) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(40 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(38)