ENSMUSG00000032067


Mus musculus

Features
Gene ID: ENSMUSG00000032067
  
Biological name :Pts
  
Synonyms : 6-pyruvoyl-tetrahydropterin synthase / Pts / Q9R1Z7
  
Possible biological names infered from orthology : 6-pyruvoyltetrahydropterin synthase / Q03393
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: A5.3
Gene start: 50521617
Gene end: 50528724
  
Corresponding Affymetrix probe sets: 10593325 (MoGene1.0st)   1450660_at (Mouse Genome 430 2.0 Array)   1458402_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000149239
Ensembl peptide - ENSMUSP00000150693
Ensembl peptide - ENSMUSP00000149552
Ensembl peptide - ENSMUSP00000034570
NCBI entrez gene - 19286     See in Manteia.
MGI - MGI:1338783
RefSeq - NM_011220
RefSeq Peptide - NP_035350
swissprot - A0A1L1SRN0
swissprot - A0A1L1SQY6
swissprot - Q9R1Z7
Ensembl - ENSMUSG00000032067
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01058222.1ENSDARG00000113674Danio rerio
 ptsENSDARG00000045269Danio rerio
 PTSENSGALG00000007848Gallus gallus
 PTSENSG00000150787Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR007115  6-pyruvoyl tetrahydropterin synthase/QueD family
 IPR022469  6-pyruvoyl tetrahydropterin synthase, histidine active site
 IPR022470  6-pyruvoyl tetrahydropterin synthase, cysteine active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006729 tetrahydrobiopterin biosynthetic process IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 molecular_functionGO:0003874 6-pyruvoyltetrahydropterin synthase activity IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000371 diluted coat color "a coat color that appears lighter in intensity or paler than normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lystbg-14J/Lystbg-14J
Genetic Background: C3Fe;B6-Lystbg-14J

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Lystbg-14J/Lystbg-14J
Genetic Background: C3Fe;B6-Lystbg-14J

 MP:0000622 increased salivation "greater than normal amounts of flowing saliva" [J:65032, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Lystbg-14J/Lystbg-14J
Genetic Background: C3Fe;B6-Lystbg-14J

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Lystbg-14J/Lystbg-14J
Genetic Background: C3Fe;B6-Lystbg-14J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Stat4tm1Jni/Stat4tm1Jni
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Lystbg-14J/Lystbg-14J
Genetic Background: C3Fe;B6-Lystbg-14J

 MP:0001437 no swallowing reflex "inability to pull food through the esophagus to the stomach in response to feeding" [J:56847]
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Allelic Composition: Lystbg-14J/Lystbg-14J
Genetic Background: C3Fe;B6-Lystbg-14J

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ptstm1Thny/Ptstm1Thny
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001905 abnormal dopamine level "greater or less than the normal concentration of this catecholamine neurotransmitter, dervied from tyrosine and the precursor to norepinephrine and epinephrine" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ptstm1Thny/Ptstm1Thny
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001937 abnormal sexual maturation "a delay or a block in the development of the sexual organs at a given age" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lystbg-14J/Lystbg-14J
Genetic Background: C3Fe;B6-Lystbg-14J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lystbg-14J/Lystbg-14J
Genetic Background: C3Fe;B6-Lystbg-14J

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic

Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0003964 abnormal noradrenaline level "aberrant concentration of this precursor of epinephrine that is a widespread central and autonomic neurotransmitter" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

 MP:0004811 abnormal neuron physiology "anomalous function of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005311 abnormal circulating amino acid level "aberrant concentration in the blood of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:83263]
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Allelic Composition: Ptstm1Thny/Ptstm1Thny
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic

 MP:0005320 abnormal biopterin level "anomalous concentration of this pterin found in yeast, the fruit fly and in normal human urine, the reduced form of which acts as a coenzyme for many enzymatic reactions" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:84533]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ptstm1Thny/Ptstm1Thny
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic

 MP:0005321 abnormal neopterin level "anomalous concentration of this pteridine derivative, which is present in body fluids and is a precursor in the biosynthesis of biopterin; elevated levels result from immune activation, malignant disease, allograft rejection, and viral infection" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:84533]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ptstm1Thny/Ptstm1Thny
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic

 MP:0005322 abnormal serotonin level "anomalous concentration of biochemical messenger and regulator, found in the CNS, g.i. tract, and produced by platelets; it mediates neurotransmission, g.i. motility, hemostasis, and cardiovascular integrity " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ptstm1Thny/Ptstm1Thny
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic

 MP:0005323 dystonia "impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs" [J:84533]
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Allelic Composition: Ptstm1Thny/Ptstm1Thny
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0005332 abnormal amino acid level "aberrant concentration of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

 MP:0005643 decreased dopamine level "less than the normal concentration of this catecholamine neurotransmitter, dervied from tyrosine and the precursor to norepinephrine and epinephrine" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:88298]
Show

Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Pafah1b1tm1Awb/Pafah1b1+,Pafah1b2Gt(Betageo)1Cla/Pafah1b2Gt(Betageo)1Cla,Pafah1b3tm1Cla/Pafah1b3tm1Cla
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Ptstm1Ich/Ptstm1Ich
Genetic Background: B6.129X1-Ptstm1Ich

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Ptstm1Thny/Ptstm1Thny
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Ptstm1Thny/Ptstm1Thny
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Ptstm1Ich/Ptstm1Ich,Tg(DBH-PTS)6Csic/0
Genetic Background: B6.Cg-Ptstm1Ich Tg(DBH-PTS)6Csic

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000032067 Pts / Q9R1Z7 / 6-pyruvoyl-tetrahydropterin synthase / Q03393* / 6-pyruvoyltetrahydropterin synthase*  / complex
 ENSMUSG00000029334 Prkg2 / protein kinase, cGMP-dependent, type II / Q13237*  / reaction






 

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