PHGDH recombinant protein

PHGDH Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121305

• Gene Names: PHGDH; NLS; PDG; PGD; NLS1; PGAD; PGDH; SERA; 3PGDH; 3-PGDH; PHGDHD; HEL-S-113
• Purity: >90% as determined by SDS-PAGE
• Synonyms: PHGDH; PHGDH Protein; Human; Recombinant (His Tag); Human PGDH/PHGDH Protein (His Tag); 3-PGDH Protein; 3PGDH Protein; HEL-S-113 Protein; NLS Protein; NLS1 Protein; PDG Protein; PGAD Protein; PGD Protein; PGDH Protein; PHGDHD Protein; SERA Protein; phosphoglycerate dehydrogenase; PHGDH recombinant protein

• Host: E Coli
• Purity/Purification: >90% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, 100mM Arg, 0.1% Tween20, 20% glycerol, pH8.0. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Phe533

• Species: Human
• Predicted N Terminal: Met
• Tag: C-His
• Protein Construction: A DNA sequence encoding the mature form of human PHGDH (O43175)(Met 1-Phe 533) was fused with a polyhistidine tag at the C-terminus and an initial Met at the N-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for PHGDH recombinant protein

Background: PHGDH is a member of the D-isomer specific 2-hydroxyacid dehydrogenase family. This new family consists of D-isomer-stereospecific enzymes. The conserved residues in this family appear to be the residues involved in the substrate binding and the catalytic reaction, and thus to be targets for site-directed mutagenesis. A number of NAD-dependent 2-hydroxyacid dehydrogenases which seem to be specific for the D-isomer of their substrate have been shown to be functionally and structurally related. PHGDH catalyzes the transition of 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the first and rate-limiting step in the phosphorylated pathway of serine biosynthesis, using NAD⁺/NADH as a cofactor. Overexpression of PHGDH may cause certain breast cancers. Defects in PHGDH are the cause of phosphoglycerate dehydrogenase deficiency which is characterized by congenital microcephaly, psychomotor retardation, and seizures.

References

Pind S, et al. (2002) V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme. J Biol Chem. 277 (9): 7136-43.Du H, et al. (2010) 3-Phosphoglycerate dehydrogenase expression is regulated by HOXA10 in murine endometrium and human endometrial cells. Reproduction. 139 (1): 237-45.Possemato R, et al. (2011) Functional genomics reveal that the serine synthesis pathway is essential in breast cancer. Nature. 476 (7360): 346-50.

NCBI and Uniprot Product Information

• NCBI GI #: 21264510
• NCBI GeneID: 26227
• UniProt Accession #: O43175; Q5SZU3; Q9BQ01; B2RD08
• Molecular Weight: 533
• NCBI Official Full Name: D-3-phosphoglycerate dehydrogenase
• NCBI Official Synonym Full Names: phosphoglycerate dehydrogenase
• NCBI Official Symbol: PHGDH
• NCBI Official Synonym Symbols: NLS; PDG; PGD; NLS1; PGAD; PGDH; SERA; 3PGDH; 3-PGDH; PHGDHD; HEL-S-113
• NCBI Protein Information: D-3-phosphoglycerate dehydrogenase; epididymis secretory protein Li 113
• UniProt Protein Name: D-3-phosphoglycerate dehydrogenase
• UniProt Gene Name: PHGDH
• UniProt Synonym Gene Names: PGDH3; 3-PGDH
• UniProt Entry Name: SERA_HUMAN

NCBI Description

This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]

Uniprot Description

PHGDH: Defects in PHGDH are the cause of phosphoglycerate dehydrogenase deficiency (PHGDH deficiency). It is characterized by congenital microcephaly, psychomotor retardation, and seizures. Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.

Protein type: Oxidoreductase; Amino Acid Metabolism - glycine, serine and threonine; EC 1.1.1.95; Cell development/differentiation

Chromosomal Location of Human Ortholog: 1p12

Cellular Component: cytosol

Molecular Function: electron carrier activity; NAD binding; phosphoglycerate dehydrogenase activity

Biological Process: neural tube development; glial cell development; glycine metabolic process; gamma-aminobutyric acid metabolic process; glutamine metabolic process; L-serine biosynthetic process; spinal cord development; regulation of gene expression; amino acid biosynthetic process; brain development; taurine metabolic process; neurite development; threonine metabolic process

Disease: Phosphoglycerate Dehydrogenase Deficiency; Neu-laxova Syndrome 1