Human PCBD1 Recombinant Protein (RPPB2073)
- SKU:
- RPPB2073
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P61457
- Research Area:
- Enzymes
Description
| 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 |
