Thiamin pyrophosphokinase 1 (TPK1) Recombinant Protein | TPK1 recombinant protein

Recombinant Human Thiamin pyrophosphokinase 1 (TPK1)

Cat. Num. AAA1450575

• Gene Names: TPK1; PP20; HTPK1; THMD5
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Thiamin pyrophosphokinase 1 (TPK1); Recombinant Human Thiamin pyrophosphokinase 1 (TPK1); Thiamin pyrophosphokinase 1; hTPK1; EC=2.7.6.2; Placental protein 20; PP20; Thiamine pyrophosphokinase 1; TPK1 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-243aa; Full Length
• Sequence: MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVREYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS
• Sequence Length: 243

• Species: Homo sapiens (Human)
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

SDS-PAGE

Related Product Information for TPK1 recombinant protein

Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.

NCBI and Uniprot Product Information

• NCBI GI #: 21362110
• NCBI GeneID: 27010
• NCBI Accession #: NP_071890.2
• NCBI GenBank Nucleotide #: NM_022445.3
• UniProt Accession #: Q9H3S4; Q6NUR5; Q9H602; A8K0T7; D3DWG0; I6L9B8
• Molecular Weight: 54.3 kDa
• NCBI Official Full Name: thiamin pyrophosphokinase 1 isoform a
• NCBI Official Synonym Full Names: thiamin pyrophosphokinase 1
• NCBI Official Symbol: TPK1
• NCBI Official Synonym Symbols: PP20; HTPK1; THMD5
• NCBI Protein Information: thiamin pyrophosphokinase 1; thiamine kinase; placental protein 20; thiamine diphosphokinase
• UniProt Protein Name: Thiamin pyrophosphokinase 1
• Protein Family: Thiamin pyrophosphokinase
• UniProt Gene Name: TPK1
• UniProt Synonym Gene Names: hTPK1; PP20
• UniProt Entry Name: TPK1_HUMAN

NCBI Description

This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Uniprot Description

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.

Protein type: Kinase, other; EC 2.7.6.2; Cofactor and Vitamin Metabolism - thiamine

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; phosphorylation; thiamin diphosphate biosynthetic process; water-soluble vitamin metabolic process

Disease: Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type)