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Human PCBD1 Recombinant Protein (RPPB2073)

SKU:
RPPB2073
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
P61457
Research Area:
Enzymes
€309
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Description

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Product Name:Human PCBD1 Recombinant Protein
Product Code:RPPB2073
Size:25µg
Species:Human
Target:PCBD1
Synonyms:DCOH, PCBD, PCD, PHS.
Source:Escherichia Coli
Physical Appearance:Sterile filtered colorless solution.
Formulation:The PCBD1 protein solution (1mg/ml) contains 20mM Tris-HCl buffer (pH-8), 1mM DTT, and 10% glycerol.
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 95.0% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MAGKAHRLSA EERDQLLPNL RAVGWNELEG RDAIFKQFHF KDFNRAFGFM TRVALQAEKL DHHPEWFNVYNKVHITLSTH ECAGLSERDI NLASFIEQVA VSMT

PCBD1 enzyme takes part in phenylalanine hydroxylation. PCBD1 deficiency results in hyperphenylalaninemia. PCBD1 enzyme controls the homodimerization of HNF1. PCBD1 takes part in tetrahydrobiopterin biosynthesis. PCBD1 prevents the formation of 7-pterins and accelerate the formation of quinonoid-BH2. PCBD1 is a coactivator for HNF1A-dependent transcription.

PCBD1 produced in E.Coli is a single, non-glycosylated polypeptide chain containing 124 amino acids (1-104 a.a.) and having a molecular mass of 14.1kDa.PCBD1 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:PCBD1: Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity. Defects in PCBD1 are the cause of BH4-deficient hyperphenylalaninemia type D (HPABH4D); also known as hyperphenylalaninemia with primapterinuria. HPABH4D is characterized by the excretion of 7-substituted pterins in the urine of affected patients. Belongs to the pterin-4-alpha-carbinolamine dehydratase family.
UniProt Protein Details:

Protein type:Transcription, coactivator/corepressor; Oxidoreductase; Lyase; EC 4.2.1.96

Chromosomal Location of Human Ortholog: 10q22

Cellular Component: nucleoplasm; cytoplasm; cytosol

Molecular Function:identical protein binding; protein binding; 4-alpha-hydroxytetrahydrobiopterin dehydratase activity; transcription coactivator activity; phenylalanine 4-monooxygenase activity

Biological Process: L-phenylalanine catabolic process; tetrahydrobiopterin biosynthetic process; transcription, DNA-dependent; protein heterooligomerization; regulation of protein homodimerization activity; positive regulation of transcription, DNA-dependent; protein homotetramerization

Disease: Hyperphenylalaninemia, Bh4-deficient, D

NCBI Summary:This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
UniProt Code:P61457
NCBI GenInfo Identifier:47606444
NCBI Gene ID:5092
NCBI Accession:P61457.2
UniProt Secondary Accession:P61457,P70519, P80095, Q9D930,
UniProt Related Accession:P61457
Molecular Weight:104
NCBI Full Name:Pterin-4-alpha-carbinolamine dehydratase
NCBI Synonym Full Names:pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
NCBI Official Symbol:PCBD1��
NCBI Official Synonym Symbols:PCD; PHS; DCOH; PCBD��
NCBI Protein Information:pterin-4-alpha-carbinolamine dehydratase; dimerizing cofactor for HNF1; 4-alpha-hydroxy-tetrahydropterin dehydratase; phenylalanine hydroxylase-stimulating protein; 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
UniProt Protein Name:Pterin-4-alpha-carbinolamine dehydratase
UniProt Synonym Protein Names:4-alpha-hydroxy-tetrahydropterin dehydratase; Dimerization cofactor of hepatocyte nuclear factor 1-alpha; DCoH; Dimerization cofactor of HNF1; Phenylalanine hydroxylase-stimulating protein; Pterin carbinolamine dehydratase; PCD
Protein Family:Pterin-4-alpha-carbinolamine dehydratase
UniProt Gene Name:PCBD1��
UniProt Entry Name:PHS_HUMAN

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