PTS - 6-pyruvoyltetrahydropterin synthase Gene

Also Known as PTPS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5805

About PTS

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,226,428-112,233,973 (from NCBI)

This gene has 9 transcripts (splice variants), 252 orthologues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 11.8) and 25 other tissues.

Summary

The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including Enzymes involved in serotonin biosynthesis and NO Synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]

PTS Products (1)

mRNA	Protein	Name
NM_000317.3	NP_000308.1	6-pyruvoyl tetrahydrobiopterin synthase

PTS Protein Structure

PTPS

0
100
145 a.a.

Protein Preferred Names	Protein Names
6-pyruvoyl tetrahydrobiopterin synthase	PTP synthase

PTS Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PTS	Q03393	AP2M1	Homo sapiens	Q96CW1	Y2H Array	32296183
Intra	PTS	Q03393	AP2M1	Homo sapiens	Q96CW1	Y2H Prey Pooling	32296183
Intra	PTS	Q03393	AP2M1	Homo sapiens	Q96CW1	Validated Y2H	32296183
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Array	31515488
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Prey Pooling	25416956
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Array	25502805
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Array	25910212
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Pull Down	16189514
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Prey Pooling	32296183
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Validated Y2H	32296183
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Array	25416956
Intra	PTS	Q03393	FXR2	Homo sapiens	P51116	Y2H Array	19060904
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Bait-Prey Pool	25910212
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Pooling	16169070
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Array	32296183
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H	24599843
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H	21516116
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Y2H Pooling	16189514
Intra	PTS	Q03393	SDCBP	Homo sapiens	O00560	Y2H Prey Pooling	25416956
Intra	PTS	Q03393	PTS	Homo sapiens	Q03393	Validated Y2H	25910212
Intra	PTS	Q03393	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	25416956
Intra	PTS	Q03393	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	25416956
Intra	PTS	Q03393	FXR2	Homo sapiens	P51116	Y2H Array	31515488
Intra	PTS	Q03393	FXR2	Homo sapiens	P51116	Y2H Pooling	19060904
Intra	PTS	Q03393	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	PTS	Q03393	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	PTS	Q03393	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PTS Proteins

Cat. No.	Product Name	Accession	Purity
HY-P73684	PTS Protein, Human (His)	Q03393 (M1-E145)	≥ 95%, as determined by reducing SDS-PAGE.

PTS Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82891	Phospho-PTS (Ser19) Antibody (YA2636)	WB, IHC-P, IP	Human
HY-P82891A	Phospho-PTS (Ser19) Antibody (YA2636)(PBS only)	WB, IHC-P, IP	Human

Related Diseases

Diseases	Alias
Hyperphenylalaninemia, Bh4-Deficient, A	6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Pts Deficiency HPABH4A Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency Ptsd Bh4-Deficient Hyperphenylalaninemia A Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency Hyperphenylalanemia, Bh4-Deficient, A Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 6-Pyruvoyltetrahydropterin Synthase Deficiency Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency Ptpsd Hyperphenylalaninemia, Bh4-Deficient, Type A
Hyperphenylalaninemia	Hyperphenylalaninaemia
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Hyperphenylalaninemia, Bh4-Deficient, B	Gtp Cyclohydrolase I Deficiency HPABH4B Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency Bh4-Deficient Hyperphenylalaninemia B Gtp Cyclohydrolase 1 Deficiency Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency Gtpch Deficiency Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency Gch1 Deficiency Guanosine Triphosphate Cyclohydrolase I Deficiency Hyperphenylalaninemia With Neopterin Deficiency
Classic Phenylketonuria	Classical Phenylketonuria Classic Pku Phenylketonuria Classical Phenylpyruvic Oligophrenia Oligophrenia Phenylpyruvica Imbecilitus Phenylpyruvica Typical Phenylketonuria Phenylpyruvic Aciduria Pah - [Phenylalanine Hydroxylase] Deficiency Hyperphenylalaninaemia Type I Typical Pku - [Phenylketonuria] Folling Disease
Tyrosinemia	Hypertyrosinemia Tyrosinemias Hereditary Tyrosinemia Hypertyrosinaemia Tyrosinaemia Hereditary Hypertyrosinemia
Plague	Yersiniosis Yersinia Infections Infection By Yersinia Pestis Pasteurella Pestis Infection Pestilential Fever Yersinia Pestis Infection
Intestinal Perforation	Perforation Of Intestine
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Sepiapterin Reductase Deficiency Spr Deficiency Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency Srd Drd Due To Srd Dopa-Responsive Hypersomnia Dyt-Spr Dyt/Park-Spr Sr-Deficient Drd Autosomal Recessive Sepiapterin Reductase-Deficient Drd Spr DRDSPRD Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency Psychomotor Disorders
Aromatic L-Amino Acid Decarboxylase Deficiency	Aadc Deficiency Dopa Decarboxylase Deficiency Ddc Deficiency Aromatic Amino Acid Decarboxylase Deficiency Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AADCD Aromatic-L-Amino-Acid Decarboxylase Deficiency Aromatic L-Amino-Acid Decarboxylase Deficiency
Metachondromatosis	METCDS MC
Dissociated Nystagmus
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Oculogyric Crisis
Noonan Syndrome With Multiple Lentigines	Leopard Syndrome Multiple Lentigines Syndrome Moynahan Syndrome Cardiomyopathic Lentiginosis Progressive Cardiomyopathic Lentiginosis Cardio-Cutaneous Syndrome Lentiginosis Profusa Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome Generalized Lentiginosis Gorlin Syndrome Ii Lentiginosis Profusa Syndrome Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes Diffuse Lentiginosis Nsml Familial Multiple Lentigines Syndrome Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type Progressive Cardiomyopathic Lentiginosis Syndrome Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
Schwannoma Of Twelfth Cranial Nerve	Hypoglossal Schwannoma Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease	Hypoglossal Nerve Diseases Disorder Of 12th Nerve Disorder Of Hypoglossal [12th] Nerve Disorder Of Hypoglossal Nerve Disorder Of Xii Nerve Disorders Of The Twelfth Cranial Nerve Disorders Of 12th Cranial Nerve
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Juvenile Myelomonocytic Leukemia	Leukemia, Juvenile Myelomonocytic JMML Leukemia, Juvenile Myelomonocytic, Somatic Juvenile Chronic Myelomonocytic Leukemia Juvenile Chronic Myelogenous Leukemia Leukemia, Myelomonocytic, Juvenile Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Diabetes Mellitus	Diabetes
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-106031	F-14512	Inhibitor	98.04%	Phase 2

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147062	N-Acetyl-D-galactosamine-6-phosphate		99.6%	Unkown
HY-N19420	Theasinensin C		/	Unkown
HY-178872	Allyl thiosulfate	Inhibitor	99.92%	Unkown
HY-W601362	N-Acetyl-D-galactosamine-6-phosphate disodium		98.61%	Unkown
HY-106031A	F-14512 hydrochloride	Inhibitor	/	Unkown
HY-143456	Anti-inflammatory agent 18	Inhibitor	/	Unkown
HY-143457	Anti-inflammatory agent 19	Inhibitor	/	Unkown
HY-P10230	Sublancin	Inhibitor	/	Unkown
HY-RS11455	PTS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-116259	PT-S58	Antagonist	/	Unkown
HY-RS20244	Pts Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26752	Pts Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PTS	VGNC	VGNC:76626
Bos taurus	PTS	VGNC	VGNC:33564
Rattus norvegicus	PTS	RGD	RGD:68367
Mus musculus	PTS	MGD	MGI:1338783
Canis familiaris	PTS	VGNC	VGNC:45203
Others	PTS	NCBI