Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3

Gene

B3GAT3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Glycosaminoglycans biosynthesis (PubMed:25893793). 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. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863).2 Publications

Catalytic activityi

UDP-alpha-D-glucuronate + [protein]-3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-serine = UDP + [protein]-3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.1 Publication

Cofactori

Activity regulationi

Inhibited by EDTA.

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei113UDP-glucuronate1
Binding sitei156UDP-glucuronate1
Binding sitei161UDP-glucuronate1
Metal bindingi196Manganese1
Active sitei281Proton donor/acceptor1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi82 – 84UDP-glucuronate binding3
Nucleotide bindingi194 – 196UDP-glucuronate binding3
Nucleotide bindingi308 – 310UDP-glucuronate binding3

GO - Molecular functioni

  • galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity Source: GO_Central
  • glucuronosyltransferase activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • protein phosphatase activator activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionTransferase
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS07624-MONOMER
BRENDAi2.4.1.135 2681
ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-3560801 Defective B3GAT3 causes JDSSDHD
SABIO-RKiO94766
UniPathwayi
UPA00378

Protein family/group databases

CAZyiGT43 Glycosyltransferase Family 43

Names & Taxonomyi

Protein namesi
Recommended name:
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC:2.4.1.1351 Publication)
Alternative name(s):
Beta-1,3-glucuronyltransferase 3
Glucuronosyltransferase I
Short name:
GlcAT-I
UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase
Short name:
GlcUAT-I
Gene namesi
Name:B3GAT3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000149541.9
HGNCiHGNC:923 B3GAT3
MIMi606374 gene
neXtProtiNX_O94766

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 28Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini29 – 335LumenalSequence analysisAdd BLAST307

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects.
See also OMIM:245600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075370140P → L in JDSCD; reduced glucuronyltransferase activity; patient fibroblasts have decreased levels of dermatan sulfate, chondroitin sulfate and heparan sulfate proteoglycans. 1 PublicationCorresponds to variant dbSNP:rs879255269EnsemblClinVar.1
Natural variantiVAR_075371223G → S in JDSCD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372487178EnsemblClinVar.1
Natural variantiVAR_066624277R → Q in JDSCD; reduced glucuronyltransferase activity; patient fibroblasts have decreased levels of dermatan sulfate, chondroitin sulfate and heparan sulfate proteoglycans. 2 PublicationsCorresponds to variant dbSNP:rs387906937EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi33C → A: Loss of dimer formation and reduced activity. 1 Publication1
Mutagenesisi281E → A: Absence of enzymatic activity in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA). Does not increase PXYLP1-induced 2-phosphoxylose phosphatase activity in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA). 1 Publication1 Publication1
Mutagenesisi301C → A: Enzyme inactivation and loss of glycosylation. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi26229
MalaCardsiB3GAT3
MIMi245600 phenotype
OpenTargetsiENSG00000149541
Orphaneti284139 Larsen-like syndrome, B3GAT3 type
PharmGKBiPA25217

Chemistry databases

DrugBankiDB03041 UDP-alpha-D-glucuronic acid
DB03435 Uridine-5'-Diphosphate

Polymorphism and mutation databases

BioMutaiB3GAT3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001951761 – 335Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3Add BLAST335

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi33Interchain
Glycosylationi300N-linked (GlcNAc...) asparagine1

Post-translational modificationi

N-glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiO94766
MaxQBiO94766
PaxDbiO94766
PeptideAtlasiO94766
PRIDEiO94766
ProteomicsDBi50431

Expressioni

Tissue specificityi

Ubiquitous (but weakly expressed in all tissues examined).

Gene expression databases

BgeeiENSG00000149541 Expressed in 169 organ(s), highest expression level in nucleus accumbens
CleanExiHS_B3GAT3
ExpressionAtlasiO94766 baseline and differential
GenevisibleiO94766 HS

Organism-specific databases

HPAiHPA051328

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Interacts with PXYLP1; the interaction increases the 2-phosphoxylose phosphatase activity of PXYLP1 during completion of linkage region formation in a B3GAT3-mediated manner.4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei227Interaction with galactose moiety of substrate glycoprotein1
Sitei318Interaction with galactose moiety of substrate glycoprotein1

Protein-protein interaction databases

BioGridi117620, 26 interactors
IntActiO94766, 2 interactors
STRINGi9606.ENSP00000265471

Structurei

Secondary structure

1335
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO94766
SMRiO94766
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO94766

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni243 – 252Interaction with galactose moiety of substrate glycoprotein10

Sequence similaritiesi

Belongs to the glycosyltransferase 43 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1476 Eukaryota
ENOG410XP79 LUCA
GeneTreeiENSGT00390000017640
HOVERGENiHBG050650
InParanoidiO94766
KOiK10158
OMAiFPMDMAG
OrthoDBiEOG091G0G8P
PhylomeDBiO94766
TreeFamiTF313522

Family and domain databases

CDDicd00218 GlcAT-I, 1 hit
Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR005027 Glyco_trans_43
IPR029044 Nucleotide-diphossugar_trans
PANTHERiPTHR10896 PTHR10896, 1 hit
PfamiView protein in Pfam
PF03360 Glyco_transf_43, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O94766-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKLKLKNVFL AYFLVSIAGL LYALVQLGQP CDCLPPLRAA AEQLRQKDLR
60 70 80 90 100
ISQLQAELRR PPPAPAQPPE PEALPTIYVV TPTYARLVQK AELVRLSQTL
110 120 130 140 150
SLVPRLHWLL VEDAEGPTPL VSGLLAASGL LFTHLVVLTP KAQRLREGEP
160 170 180 190 200
GWVHPRGVEQ RNKALDWLRG RGGAVGGEKD PPPPGTQGVV YFADDDNTYS
210 220 230 240 250
RELFEEMRWT RGVSVWPVGL VGGLRFEGPQ VQDGRVVGFH TAWEPSRPFP
260 270 280 290 300
VDMAGFAVAL PLLLDKPNAQ FDSTAPRGHL ESSLLSHLVD PKDLEPRAAN
310 320 330
CTRVLVWHTR TEKPKMKQEE QLQRQGRGSD PAIEV
Length:335
Mass (Da):37,122
Last modified:April 26, 2004 - v2
Checksum:i5EC45408597F1C0F
GO
Isoform 2 (identifier: O94766-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     304-335: VLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV → TESRCVTQAGVQ

Note: No experimental confirmation available.
Show »
Length:315
Mass (Da):34,625
Checksum:iC0CE4A035B38E626
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PNA1E9PNA1_HUMAN
Galactosylgalactosylxylosylprotein ...
B3GAT3
223Annotation score:
G3V150G3V150_HUMAN
Galactosylgalactosylxylosylprotein ...
B3GAT3 hCG_16017
319Annotation score:
E9PQ60E9PQ60_HUMAN
Galactosylgalactosylxylosylprotein ...
B3GAT3
38Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti204F → S in BAA34537 (PubMed:9506957).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075370140P → L in JDSCD; reduced glucuronyltransferase activity; patient fibroblasts have decreased levels of dermatan sulfate, chondroitin sulfate and heparan sulfate proteoglycans. 1 PublicationCorresponds to variant dbSNP:rs879255269EnsemblClinVar.1
Natural variantiVAR_075371223G → S in JDSCD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372487178EnsemblClinVar.1
Natural variantiVAR_066624277R → Q in JDSCD; reduced glucuronyltransferase activity; patient fibroblasts have decreased levels of dermatan sulfate, chondroitin sulfate and heparan sulfate proteoglycans. 2 PublicationsCorresponds to variant dbSNP:rs387906937EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056347304 – 335VLVWH…PAIEV → TESRCVTQAGVQ in isoform 2. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB009598 mRNA Translation: BAA34537.1
AK316228 mRNA Translation: BAH14599.1
AP001458 Genomic DNA No translation available.
BC007906 mRNA Translation: AAH07906.1
BC071961 mRNA Translation: AAH71961.1
AJ005865 mRNA Translation: CAA06742.1
CCDSiCCDS76418.1 [O94766-2]
CCDS8025.1 [O94766-1]
RefSeqiNP_001275652.1, NM_001288723.1 [O94766-2]
NP_036332.2, NM_012200.3 [O94766-1]
UniGeneiHs.502759

Genome annotation databases

EnsembliENST00000265471; ENSP00000265471; ENSG00000149541 [O94766-1]
ENST00000534026; ENSP00000432474; ENSG00000149541 [O94766-2]
GeneIDi26229
KEGGihsa:26229
UCSCiuc001ntw.3 human [O94766-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB009598 mRNA Translation: BAA34537.1
AK316228 mRNA Translation: BAH14599.1
AP001458 Genomic DNA No translation available.
BC007906 mRNA Translation: AAH07906.1
BC071961 mRNA Translation: AAH71961.1
AJ005865 mRNA Translation: CAA06742.1
CCDSiCCDS76418.1 [O94766-2]
CCDS8025.1 [O94766-1]
RefSeqiNP_001275652.1, NM_001288723.1 [O94766-2]
NP_036332.2, NM_012200.3 [O94766-1]
UniGeneiHs.502759

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FGGX-ray2.30A/B76-335[»]
1KWSX-ray2.10A/B76-335[»]
3CU0X-ray1.90A/B76-335[»]
ProteinModelPortaliO94766
SMRiO94766
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117620, 26 interactors
IntActiO94766, 2 interactors
STRINGi9606.ENSP00000265471

Chemistry databases

DrugBankiDB03041 UDP-alpha-D-glucuronic acid
DB03435 Uridine-5'-Diphosphate

Protein family/group databases

CAZyiGT43 Glycosyltransferase Family 43

Polymorphism and mutation databases

BioMutaiB3GAT3

Proteomic databases

EPDiO94766
MaxQBiO94766
PaxDbiO94766
PeptideAtlasiO94766
PRIDEiO94766
ProteomicsDBi50431

Protocols and materials databases

DNASUi26229
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265471; ENSP00000265471; ENSG00000149541 [O94766-1]
ENST00000534026; ENSP00000432474; ENSG00000149541 [O94766-2]
GeneIDi26229
KEGGihsa:26229
UCSCiuc001ntw.3 human [O94766-1]

Organism-specific databases

CTDi26229
DisGeNETi26229
EuPathDBiHostDB:ENSG00000149541.9
GeneCardsiB3GAT3
HGNCiHGNC:923 B3GAT3
HPAiHPA051328
MalaCardsiB3GAT3
MIMi245600 phenotype
606374 gene
neXtProtiNX_O94766
OpenTargetsiENSG00000149541
Orphaneti284139 Larsen-like syndrome, B3GAT3 type
PharmGKBiPA25217
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1476 Eukaryota
ENOG410XP79 LUCA
GeneTreeiENSGT00390000017640
HOVERGENiHBG050650
InParanoidiO94766
KOiK10158
OMAiFPMDMAG
OrthoDBiEOG091G0G8P
PhylomeDBiO94766
TreeFamiTF313522

Enzyme and pathway databases

UniPathwayi
UPA00378

BioCyciMetaCyc:HS07624-MONOMER
BRENDAi2.4.1.135 2681
ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-3560801 Defective B3GAT3 causes JDSSDHD
SABIO-RKiO94766

Miscellaneous databases

ChiTaRSiB3GAT3 human
EvolutionaryTraceiO94766
GeneWikiiB3GAT3
GenomeRNAii26229
PROiPR:O94766
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149541 Expressed in 169 organ(s), highest expression level in nucleus accumbens
CleanExiHS_B3GAT3
ExpressionAtlasiO94766 baseline and differential
GenevisibleiO94766 HS

Family and domain databases

CDDicd00218 GlcAT-I, 1 hit
Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR005027 Glyco_trans_43
IPR029044 Nucleotide-diphossugar_trans
PANTHERiPTHR10896 PTHR10896, 1 hit
PfamiView protein in Pfam
PF03360 Glyco_transf_43, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiB3GA3_HUMAN
AccessioniPrimary (citable) accession number: O94766
Secondary accession number(s): B7ZAB3, Q96I06, Q9UEP0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: April 26, 2004
Last modified: November 7, 2018
This is version 179 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again