PTS - 6-pyruvoyltetrahydropterin synthase Gene
Also Known as PTPS
生物種: Homo sapiens
About PTS
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: 6-pyruvoyl tetrahydropterin synthase (14 - 145)
- 0
- 100
- 145 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
6-pyruvoyl tetrahydrobiopterin synthase |
|
PTS Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
PTS | Q03393 | AP2M1 | Homo sapiens | Q96CW1 | 32296183 | |
|
Intra
|
PTS | Q03393 | AP2M1 | Homo sapiens | Q96CW1 | 32296183 | |
|
Intra
|
PTS | Q03393 | AP2M1 | Homo sapiens | Q96CW1 | 32296183 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 31515488 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 25416956 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 25502805 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 25910212 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 16189514 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 32296183 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 32296183 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 25416956 | |
|
Intra
|
PTS | Q03393 | FXR2 | Homo sapiens | P51116 | 19060904 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 25910212 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 16169070 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 32296183 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 24599843 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 21516116 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 16189514 | |
|
Intra
|
PTS | Q03393 | SDCBP | Homo sapiens | O00560 | 25416956 | |
|
Intra
|
PTS | Q03393 | PTS | Homo sapiens | Q03393 | 25910212 | |
|
Intra
|
PTS | Q03393 | LNX1 | Homo sapiens | Q8TBB1 | 25416956 | |
|
Intra
|
PTS | Q03393 | LNX1 | Homo sapiens | Q8TBB1 | 25416956 | |
|
Intra
|
PTS | Q03393 | FXR2 | Homo sapiens | P51116 | 31515488 | |
|
Intra
|
PTS | Q03393 | FXR2 | Homo sapiens | P51116 | 19060904 | |
|
Intra
|
PTS | Q03393 | DDIT4L | Homo sapiens | Q96D03 | 32296183 | |
|
Intra
|
PTS | Q03393 | DDIT4L | Homo sapiens | Q96D03 | 32296183 | |
|
Intra
|
PTS | Q03393 | DDIT4L | Homo sapiens | Q96D03 | 32296183 |
Recombinant PTS Proteins
| 製品番号 | 製品名 | アクセッション番号 | 純度 |
|---|---|---|---|
| HY-P73684 | PTS Protein, Human (His) | Q03393 (M1-E145) | ≥ 95%, as determined by reducing SDS-PAGE. |
PTS 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| 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 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
|
| Hyperphenylalaninemia |
|
|
| Phenylketonuria |
|
|
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
|
| Classic Phenylketonuria |
|
|
| Tyrosinemia |
|
|
| Plague |
|
|
| Intestinal Perforation |
|
|
| Dystonia |
|
|
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
|
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
|
| Metachondromatosis |
|
|
| Dissociated Nystagmus |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Oculogyric Crisis |
|
|
| Noonan Syndrome With Multiple Lentigines |
|
|
| Schwannoma Of Twelfth Cranial Nerve |
|
|
| Hypoglossal Nerve Disease |
|
|
| Rasopathy |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Diabetes Mellitus |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Noonan Syndrome 1 |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | 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 |