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
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B3GA3_HUMAN
DESCRIPTION: RecName: Full=Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; EC=2.4.1.135; 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.
ENZYME REGULATION: Inhibited by EDTA.
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="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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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
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-  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     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  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 2.4.1.135).
AK297970 - Homo sapiens cDNA FLJ58851 complete cds, highly similar to Galactosylgalactosylxylosyl protein 3-beta-glucuronosyltransferase 3 (EC 2.4.1.135).
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.