Human TPK1 Recombinant Protein (RPPB2669)
- SKU:
- RPPB2669
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- Q9H3S4
- Research Area:
- Enzymes
Description
| Product Name: | Human TPK1 Recombinant Protein |
| Product Code: | RPPB2669 |
| Size: | 20µg |
| Species: | Human |
| Target: | TPK1 |
| Synonyms: | Thiamin pyrophosphokinase 1, hTPK1, Placental protein 20, PP20, Thiamine pyrophosphokinase 1, TPK1, THMD5. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile filtered colorless solution. |
| Formulation: | TPK1 protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH8.0), 20% glycerol and 1mM DTT. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSHMEHAFT PLEPLLSTGN LKYCLVILNQ PLDNYFRHLW NKALLRACAD GGANRLYDIT EGERESFLPE FINGDFDSIR PEVREYYATK GCELISTPDQ DHTDFTKCLK MLQKKIEEKD LKVDVIVTLG GLAGRFDQIM ASVNTLFQAT HITPFPIIIIQEESLIYLLQ PGKHRLHVDT GMEGDWCGLI PVGQPCMQVT TTGLKWNLTN DVLAFGTLVS TSNTYDGSGV VTVETDHPLL WTMAIKS |
Thiamin pyrophosphokinase 1 (TPK1) is a homodimer which catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. TPK1 is found in the heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues. TPK1 gene defects cause the thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5), which is an autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism.
TPK1 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 267 amino acids (1-243 a.a.) and having a molecular mass of 29.8kDa.TPK1 is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | TPK1: Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. Defects in TPK1 are the cause of thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5). An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. Belongs to the thiamine pyrophosphokinase family. |
| UniProt Protein Details: | Protein type:EC 2.7.6.2; Cofactor and Vitamin Metabolism - thiamine; Kinase, other Chromosomal Location of Human Ortholog: 7q34-q35 Cellular Component: cytosol Molecular Function:thiamin binding; thiamin diphosphokinase activity; kinase activity; ATP binding Biological Process: thiamin metabolic process; vitamin metabolic process; thiamin and derivative metabolic process; thiamin diphosphate biosynthetic process; phosphorylation; water-soluble vitamin metabolic process Disease: Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type) |
| NCBI Summary: | The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017] |
| UniProt Code: | Q9H3S4 |
| NCBI GenInfo Identifier: | 44888537 |
| NCBI Gene ID: | 27010 |
| NCBI Accession: | Q9H3S4.1 |
| UniProt Related Accession: | Q9H3S4 |
| Molecular Weight: | ~ 28kDa |
| NCBI Full Name: | Thiamin pyrophosphokinase 1 |
| NCBI Synonym Full Names: | thiamin pyrophosphokinase 1 |
| NCBI Official Symbol: | TPK1�� |
| NCBI Official Synonym Symbols: | PP20; HTPK1; THMD5�� |
| NCBI Protein Information: | thiamin pyrophosphokinase 1 |
| UniProt Protein Name: | Thiamin pyrophosphokinase 1 |
| UniProt Synonym Protein Names: | Placental protein 20; PP20; Thiamine pyrophosphokinase 1 |
| Protein Family: | Thiamin pyrophosphokinase |
| UniProt Gene Name: | TPK1�� |
| UniProt Entry Name: | TPK1_HUMAN |
