B3GAT3 recombinant protein

B3GAT3 Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121146

• Gene Names: B3GAT3; GLCATI; glcUAT-I
• Purity: >85% as determined by SDS-PAGE
• Synonyms: B3GAT3; B3GAT3 Protein; Human; Recombinant (His Tag); Human B3GAT3/GLCATI Protein (His Tag); GLCATI Protein; glcUAT-I Protein; beta-1; 3-glucuronyltransferase 3; B3GAT3 recombinant protein

• Host: E Coli
• Purity/Purification: >85% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. 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: Glu72-Val335

• Species: Human
• Predicted N Terminal: His
• Tag: N-His
• Protein Construction: A DNA sequence encoding the human B3GAT3 (NP_036332.2)(Glu72-Val335) was expressed with a polyhistidine tag 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 B3GAT3 recombinant protein

Background: B3GAT3, encoding beta-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. There is a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3.

NCBI and Uniprot Product Information

• NCBI GI #: 12408654
• NCBI GeneID: 26229
• NCBI Accession #: NP_036332.2
• NCBI GenBank Nucleotide #: NM_012200.3
• UniProt Accession #: O94766; Q96I06; Q9UEP0
• Molecular Weight: 37,122 Da
• NCBI Official Full Name: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 1
• NCBI Official Synonym Full Names: beta-1,3-glucuronyltransferase 3
• NCBI Official Symbol: B3GAT3
• NCBI Official Synonym Symbols: GLCATI; glcUAT-I
• NCBI Protein Information: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; Sqv-8-like protein; UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
• UniProt Protein Name: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
• Protein Family: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase
• UniProt Gene Name: B3GAT3
• UniProt Synonym Gene Names: GlcAT-I; GlcUAT-I
• UniProt Entry Name: B3GA3_HUMAN

Uniprot Description

B3GAT3: Glycosaminoglycans biosynthesis. Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Defects in B3GAT3 are the cause of multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD). An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. Belongs to the glycosyltransferase 43 family.

Protein type: Glycan Metabolism - heparan sulfate biosynthesis; Transferase; EC 2.4.1.135; Membrane protein, integral; Glycan Metabolism - chondroitin sulfate biosynthesis

Chromosomal Location of Human Ortholog: 11q12.3

Cellular Component: Golgi membrane; Golgi apparatus; cis-Golgi network; membrane; integral to membrane

Molecular Function: protein binding; glucuronosyltransferase activity; metal ion binding; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity

Biological Process: chondroitin sulfate metabolic process; positive regulation of catalytic activity; glycosaminoglycan biosynthetic process; glycosaminoglycan metabolic process; heparan sulfate proteoglycan biosynthetic process; chondroitin sulfate proteoglycan biosynthetic process; carbohydrate metabolic process; protein amino acid glycosylation; pathogenesis; dermatan sulfate proteoglycan biosynthetic process

Disease: Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, And Congenital Heart Defects