Human Gene B3GAT3 (ENST00000265471.10) from GENCODE V44
  Description: Homo sapiens beta-1,3-glucuronyltransferase 3 (B3GAT3), transcript variant 5, non-coding RNA. (from RefSeq NR_109991)
RefSeq Summary (NM_012200): The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013].
Gencode Transcript: ENST00000265471.10
Gencode Gene: ENSG00000149541.10
Transcript (Including UTRs)
   Position: hg38 chr11:62,615,296-62,621,986 Size: 6,691 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr11:62,615,701-62,621,947 Size: 6,247 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr11:62,615,296-62,621,986)mRNA (may differ from genome)Protein (335 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; EC=; AltName: Full=Beta-1,3-glucuronyltransferase 3; AltName: Full=Glucuronosyltransferase I; Short=GlcAT-I; AltName: Full=UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; Short=GlcUAT-I;
FUNCTION: 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.
CATALYTIC ACTIVITY: UDP-glucuronate + 3-beta-D-galactosyl-4-beta- D-galactosyl-O-beta-D-xylosylprotein = UDP + 3-beta-D- glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D- xylosylprotein.
COFACTOR: Manganese.
PATHWAY: Protein modification; protein glycosylation.
SUBUNIT: Homodimer; disulfide-linked.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatus, cis-Golgi network.
TISSUE SPECIFICITY: Ubiquitous (but weakly expressed in all tissues examined).
PTM: N-glycosylated.
DISEASE: Defects in B3GAT3 are the cause of multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:245600]. 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.
SIMILARITY: Belongs to the glycosyltransferase 43 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="";

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: B3GAT3
Diseases sorted by gene-association score: multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects* (1550), multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects* (500)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.68 RPKM in Pituitary
Total median expression: 969.57 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.4039-0.549 Picture PostScript Text
3' UTR -165.80405-0.409 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005027 - Glyco_trans_43

Pfam Domains:
PF03360 - Glycosyltransferase family 43

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FGG - X-ray MuPIT 1KWS - X-ray MuPIT 3CU0 - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on O94766
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
GO:0015020 glucuronosyltransferase activity
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0072542 protein phosphatase activator activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006486 protein glycosylation
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0043085 positive regulation of catalytic activity
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process
GO:0050651 dermatan sulfate proteoglycan biosynthetic process
GO:0090316 positive regulation of intracellular protein transport

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  BC011173 - Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I), mRNA (cDNA clone IMAGE:4149955), with apparent retained intron.
AJ005865 - Homo sapiens mRNA for putative Sqv-8-like protein, partial.
BC071961 - Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I), mRNA (cDNA clone MGC:88653 IMAGE:6214005), complete cds.
BC007906 - Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I), mRNA (cDNA clone MGC:14373 IMAGE:4299539), complete cds.
AB009598 - Homo sapiens mRNA for glucuronyltransferase I, complete cds.
BC019832 - Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I), mRNA (cDNA clone IMAGE:4995886), partial cds.
AK075166 - Homo sapiens cDNA FLJ90685 fis, clone PLACE1006073, highly similar to Homo sapiens mRNA for glucuronyltransferase I.
JD483552 - Sequence 464576 from Patent EP1572962.
JD236573 - Sequence 217597 from Patent EP1572962.
JD449646 - Sequence 430670 from Patent EP1572962.
JD470481 - Sequence 451505 from Patent EP1572962.
JD437333 - Sequence 418357 from Patent EP1572962.
JD039864 - Sequence 20888 from Patent EP1572962.
AK310200 - Homo sapiens cDNA, FLJ17242.
JD255347 - Sequence 236371 from Patent EP1572962.
JD518469 - Sequence 499493 from Patent EP1572962.
JD384160 - Sequence 365184 from Patent EP1572962.
JD260910 - Sequence 241934 from Patent EP1572962.
JD442598 - Sequence 423622 from Patent EP1572962.
JD309987 - Sequence 291011 from Patent EP1572962.
JD254586 - Sequence 235610 from Patent EP1572962.
JD107314 - Sequence 88338 from Patent EP1572962.
JD365541 - Sequence 346565 from Patent EP1572962.
JD115772 - Sequence 96796 from Patent EP1572962.
HQ447823 - Synthetic construct Homo sapiens clone IMAGE:100071166; CCSB005179_02 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3) gene, encodes complete protein.
KJ893540 - Synthetic construct Homo sapiens clone ccsbBroadEn_02934 B3GAT3 gene, encodes complete protein.
JD408632 - Sequence 389656 from Patent EP1572962.
AK316228 - Homo sapiens cDNA, FLJ79127 complete cds, highly similar to Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC
AK297970 - Homo sapiens cDNA FLJ58851 complete cds, highly similar to Galactosylgalactosylxylosyl protein 3-beta-glucuronosyltransferase 3 (EC
JD317515 - Sequence 298539 from Patent EP1572962.
CU675855 - Synthetic construct Homo sapiens gateway clone IMAGE:100018989 5' read B3GAT3 mRNA.
JD103067 - Sequence 84091 from Patent EP1572962.
DQ591078 - Homo sapiens piRNA piR-58190, complete sequence.
JD526140 - Sequence 507164 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00532 - Glycosaminoglycan biosynthesis - chondroitin sulfate
hsa00534 - Glycosaminoglycan biosynthesis - heparan sulfate
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6557 - glycoaminoglycan-protein linkage region biosynthesis
PWY-6564 - heparan sulfate biosynthesis
PWY-6569 - chondroitin sulfate biosynthesis
PWY-6571 - dermatan sulfate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein O94766 (Reactome details) participates in the following event(s):

R-HSA-1889955 B3GATs transfer GlcA to tetrasaccharide linker
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism
R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B3GA3_HUMAN, ENST00000265471.1, ENST00000265471.2, ENST00000265471.3, ENST00000265471.4, ENST00000265471.5, ENST00000265471.6, ENST00000265471.7, ENST00000265471.8, ENST00000265471.9, NR_109991, O94766, Q96I06, Q9UEP0, uc001ntw.1, uc001ntw.2, uc001ntw.3, uc001ntw.4
UCSC ID: ENST00000265471.10
RefSeq Accession: NM_012200
Protein: O94766 (aka B3GA3_HUMAN or B3G3_HUMAN)
CCDS: CCDS8025.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.