Details for: B3GAT3

Gene ID: 26229

Symbol: B3GAT3

Ensembl ID: ENSG00000149541

Description: beta-1,3-glucuronyltransferase 3

Associated with

Other Information

Genular Protein ID: 2092280141

Symbol: B3GA3_HUMAN

Name: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9506957

Title: Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.

PubMed ID: 9506957

DOI: 10.1074/jbc.273.12.6615

PubMed ID: 10842173

Title: Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues.

PubMed ID: 10842173

DOI: 10.1074/jbc.m002182200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9927678

Title: Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway.

PubMed ID: 9927678

DOI: 10.1073/pnas.96.3.974

PubMed ID: 10526176

Title: Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.

PubMed ID: 10526176

DOI: 10.1016/s0014-5793(99)01287-9

PubMed ID: 21763480

Title: Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

PubMed ID: 21763480

DOI: 10.1016/j.ajhg.2011.05.021

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24425863

Title: Identification of phosphatase that dephosphorylates xylose in the glycosaminoglycan-protein linkage region of proteoglycans.

PubMed ID: 24425863

DOI: 10.1074/jbc.m113.520536

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 10946001

Title: Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I.

PubMed ID: 10946001

DOI: 10.1074/jbc.m007399200

PubMed ID: 11950836

Title: Crystal structure of beta 1,3-glucuronyltransferase I in complex with active donor substrate UDP-GlcUA.

PubMed ID: 11950836

DOI: 10.1074/jbc.m112343200

PubMed ID: 18400750

Title: 2-o-phosphorylation of xylose and 6-O-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis.

PubMed ID: 18400750

DOI: 10.1074/jbc.m709556200

PubMed ID: 24668659

Title: Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.

PubMed ID: 24668659

DOI: 10.1002/ajmg.a.36487

PubMed ID: 26086840

Title: A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

PubMed ID: 26086840

DOI: 10.1002/ajmg.a.37209

PubMed ID: 25893793

Title: Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.

PubMed ID: 25893793

DOI: 10.1007/s00439-015-1549-2

Sequence Information:

  • Length: 335
  • Mass: 37122
  • Checksum: 5EC45408597F1C0F
  • Sequence:
  • MKLKLKNVFL AYFLVSIAGL LYALVQLGQP CDCLPPLRAA AEQLRQKDLR ISQLQAELRR 
    PPPAPAQPPE PEALPTIYVV TPTYARLVQK AELVRLSQTL SLVPRLHWLL VEDAEGPTPL 
    VSGLLAASGL LFTHLVVLTP KAQRLREGEP GWVHPRGVEQ RNKALDWLRG RGGAVGGEKD 
    PPPPGTQGVV YFADDDNTYS RELFEEMRWT RGVSVWPVGL VGGLRFEGPQ VQDGRVVGFH 
    TAWEPSRPFP VDMAGFAVAL PLLLDKPNAQ FDSTAPRGHL ESSLLSHLVD PKDLEPRAAN 
    CTRVLVWHTR TEKPKMKQEE QLQRQGRGSD PAIEV

Genular Protein ID: 3637199256

Symbol: G3V150_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 319
  • Mass: 34963
  • Checksum: 1BD9BE4486ABEDAE
  • Sequence:
  • MKLKLKNVFL AYFLVSIAGL LYALVQLGQP CDCLPPLRAA AEQLRQKDLR ISQLQAELRR 
    PPPAPAQPPE PEALPTIYVV TPTYARLVQK AELVRLSQTL SLVPRLHWLL VEDAEGPTPL 
    VSGLLAASGL LFTHLVVLTP KAQRLREGEP GWVHPRGVEQ RNKALDWLRG RGGAVGGEKD 
    PPPPGTQGVV YFADDDNTYS RELFEEMRWT RGVSVWPVGL VGGLRFEGPQ VQDGRVVGFH 
    TAWEPSRPFP VDMAGFAVAL PLLLDKPNAQ FDSTAPRGHL ESSLLSHLVD PKDLEPRAAN 
    CTRSLAVSPR LECSSAILA

Genular Protein ID: 725004229

Symbol: Q5U676_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 341
  • Mass: 37828
  • Checksum: 130B8EDDBB67DE88
  • Sequence:
  • LLGRGRRRGH EAEAEERVSR LLPGVDRRPP LRAGQPCDCL PPLRAAAEQL RQKDLRISQL 
    QAELRRPPPA PAQPPEPEAL PTIYVVTPTY ARLVQKAELV RLSQTLSLVP RLHWLLVEDA 
    EGPTPLVSGL LAASGLLFTH LVVLTPKAQR LREGEPGWVH PRGVEQRNKA LDWLRGRGGA 
    VGGEKDPPPP GTQGVVYFAD DDNTYSRELF EEMRWTRGVS VWPVGLVGGL RFEGPQVQDG 
    RVVGFHTAWE PSRPFPVDMA GFAVALPLLL DKPNAQFDST APRGHLESSL LSHLVDPKDL 
    EPRAANCTRV LVWHTRTEKP KMKQEEQLQR QGRGSDPAIE V

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.