Human Gene B3GAT1 (ENST00000312527.9_7) from GENCODE V47lift37
  Description: beta-1,3-glucuronyltransferase 1, transcript variant 2 (from RefSeq NM_054025.3)
Gencode Transcript: ENST00000312527.9_7
Gencode Gene: ENSG00000109956.13_9
Transcript (Including UTRs)
   Position: hg19 chr11:134,248,402-134,282,136 Size: 33,735 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr11:134,251,832-134,257,553 Size: 5,722 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:134,248,402-134,282,136)mRNA (may differ from genome)Protein (334 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B3GA1_HUMAN
DESCRIPTION: RecName: Full=Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1; EC=2.4.1.135; AltName: Full=Beta-1,3-glucuronyltransferase 1; AltName: Full=Glucuronosyltransferase P; Short=GlcAT-P; AltName: Full=UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase; Short=GlcUAT-P;
FUNCTION: Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo- orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl- sphingomyelin was the most effective, followed by palmitoyl- sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group (By similarity).
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 (Potential).
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
TISSUE SPECIFICITY: Mainly expressed in the brain.
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
 

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: B3GAT1
Diseases sorted by gene-association score: renal adenoma (17), malignant glandular tumor of peripheral nerve sheath (16), chronic nk-cell lymphocytosis (16), epithelial predominant wilms' tumor (16), natural killer cell leukemia (13), diffuse infiltrative lymphocytosis syndrome (11), viral esophagitis (9), lymphocytic gastritis (7), bone ewing's sarcoma (7), kidney rhabdoid cancer (6), spastic paraplegia 32, autosomal recessive (6), dermis tumor (5), gastric small cell carcinoma (5), plexiform schwannoma (5), pediatric lymphoma (5), nephrogenic adenofibroma (4), extraosseous ewing's sarcoma (4), malignant peripheral nerve sheath tumor (3), renal cell carcinoma, papillary (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 50.53 RPKM in Brain - Cortex
Total median expression: 433.01 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 -370.10717-0.516 Picture PostScript Text
3' UTR -933.602254-0.414 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

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1V82 - X-ray MuPIT 1V83 - X-ray MuPIT 1V84 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9P2W7
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AF131769 - Homo sapiens clone 24940 mRNA sequence.
AL834455 - Homo sapiens mRNA; cDNA DKFZp547E046 (from clone DKFZp547E046).
AB029396 - Homo sapiens hu-GlcAT-P mRNA for glucuronyltransferase, complete cds.
BC010466 - Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P), mRNA (cDNA clone MGC:16940 IMAGE:4157589), complete cds.
JD426430 - Sequence 407454 from Patent EP1572962.
JD485012 - Sequence 466036 from Patent EP1572962.
JD097285 - Sequence 78309 from Patent EP1572962.
JD428089 - Sequence 409113 from Patent EP1572962.
JD306563 - Sequence 287587 from Patent EP1572962.
JD503674 - Sequence 484698 from Patent EP1572962.
JD326797 - Sequence 307821 from Patent EP1572962.
JD238722 - Sequence 219746 from Patent EP1572962.
JD299505 - Sequence 280529 from Patent EP1572962.
JD528425 - Sequence 509449 from Patent EP1572962.
JD334683 - Sequence 315707 from Patent EP1572962.
JD111865 - Sequence 92889 from Patent EP1572962.
JD475774 - Sequence 456798 from Patent EP1572962.
JD431497 - Sequence 412521 from Patent EP1572962.
JD421068 - Sequence 402092 from Patent EP1572962.
JD093362 - Sequence 74386 from Patent EP1572962.
JD503529 - Sequence 484553 from Patent EP1572962.
JD236795 - Sequence 217819 from Patent EP1572962.
JD388658 - Sequence 369682 from Patent EP1572962.
JD397553 - Sequence 378577 from Patent EP1572962.
JD343255 - Sequence 324279 from Patent EP1572962.
JD445527 - Sequence 426551 from Patent EP1572962.
JD485157 - Sequence 466181 from Patent EP1572962.
JD150982 - Sequence 132006 from Patent EP1572962.
JD255028 - Sequence 236052 from Patent EP1572962.
JD180885 - Sequence 161909 from Patent EP1572962.
JD373774 - Sequence 354798 from Patent EP1572962.
JD528628 - Sequence 509652 from Patent EP1572962.
JD198678 - Sequence 179702 from Patent EP1572962.
JD433184 - Sequence 414208 from Patent EP1572962.
JD100735 - Sequence 81759 from Patent EP1572962.
JD417844 - Sequence 398868 from Patent EP1572962.
JD164289 - Sequence 145313 from Patent EP1572962.
JD110039 - Sequence 91063 from Patent EP1572962.
JD480678 - Sequence 461702 from Patent EP1572962.
JD278068 - Sequence 259092 from Patent EP1572962.
JD261229 - Sequence 242253 from Patent EP1572962.
JD261228 - Sequence 242252 from Patent EP1572962.
JD056752 - Sequence 37776 from Patent EP1572962.
JD382432 - Sequence 363456 from Patent EP1572962.
JD213488 - Sequence 194512 from Patent EP1572962.
JD192399 - Sequence 173423 from Patent EP1572962.
JD159787 - Sequence 140811 from Patent EP1572962.
JD512098 - Sequence 493122 from Patent EP1572962.
JD478147 - Sequence 459171 from Patent EP1572962.
JD173622 - Sequence 154646 from Patent EP1572962.
JD265038 - Sequence 246062 from Patent EP1572962.
JD259231 - Sequence 240255 from Patent EP1572962.
JD137130 - Sequence 118154 from Patent EP1572962.
JD085829 - Sequence 66853 from Patent EP1572962.
JD093334 - Sequence 74358 from Patent EP1572962.
JD360994 - Sequence 342018 from Patent EP1572962.
JD155237 - Sequence 136261 from Patent EP1572962.
JD387630 - Sequence 368654 from Patent EP1572962.
JD420845 - Sequence 401869 from Patent EP1572962.
JD391928 - Sequence 372952 from Patent EP1572962.
JD432361 - Sequence 413385 from Patent EP1572962.
JD131815 - Sequence 112839 from Patent EP1572962.
AK299637 - Homo sapiens cDNA FLJ55820 complete cds, highly similar to Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 (EC 2.4.1.135).
JD392012 - Sequence 373036 from Patent EP1572962.
DQ893324 - Synthetic construct clone IMAGE:100005954; FLH196173.01X; RZPDo839E08154D beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1) gene, encodes complete protein.
DQ895278 - Synthetic construct Homo sapiens clone IMAGE:100009738; FLH183006.01L; RZPDo839E08139D beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1) gene, encodes complete protein.
DQ896640 - Synthetic construct Homo sapiens clone IMAGE:100011100; FLH196169.01L; RZPDo839E08153D beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1) gene, encodes complete protein.
AB528522 - Synthetic construct DNA, clone: pF1KB3865, Homo sapiens B3GAT1 gene for beta-1,3-glucuronyltransferase 1, without stop codon, in Flexi system.
CR457098 - Homo sapiens full open reading frame cDNA clone RZPDo834B0419D for gene B3GAT1, beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P); complete cds, incl. stopcodon.
JD231609 - Sequence 212633 from Patent EP1572962.
JD282396 - Sequence 263420 from Patent EP1572962.
JD272532 - Sequence 253556 from Patent EP1572962.
JD137083 - Sequence 118107 from Patent EP1572962.
JD195189 - Sequence 176213 from Patent EP1572962.
JD153198 - Sequence 134222 from Patent EP1572962.
JD371887 - Sequence 352911 from Patent EP1572962.
JD379337 - Sequence 360361 from Patent EP1572962.
JD054957 - Sequence 35981 from Patent EP1572962.
JD220984 - Sequence 202008 from Patent EP1572962.
JD078163 - Sequence 59187 from Patent EP1572962.
JD472801 - Sequence 453825 from Patent EP1572962.

-  Biochemical and Signaling 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 Q9P2W7 (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: B3GA1_HUMAN, B3GAT1 , B7Z5Z8, ENST00000312527.1, ENST00000312527.2, ENST00000312527.3, ENST00000312527.4, ENST00000312527.5, ENST00000312527.6, ENST00000312527.7, ENST00000312527.8, GLCATP, NM_054025, Q96FS7, Q9P2W7, uc317pgb.1, uc317pgb.2
UCSC ID: ENST00000312527.9_7
RefSeq Accession: NM_054025.3
Protein: Q9P2W7 (aka B3GA1_HUMAN or B3G1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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