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Protein

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3

Gene

B3GAT3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Enzyme 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: UniProtKB
  • glucuronosyltransferase activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • protein phosphatase activator activity Source: UniProtKB

GO - Biological processi

  • carbohydrate metabolic process Source: GO_Central
  • chondroitin sulfate metabolic process Source: GO_Central
  • chondroitin sulfate proteoglycan biosynthetic process Source: UniProtKB
  • dermatan sulfate proteoglycan biosynthetic process Source: UniProtKB
  • glycosaminoglycan biosynthetic process Source: UniProtKB
  • glycosaminoglycan metabolic process Source: Reactome
  • heparan sulfate proteoglycan biosynthetic process Source: UniProtKB
  • positive regulation of catalytic activity Source: UniProtKB
  • positive regulation of intracellular protein transport Source: UniProtKB
  • protein glycosylation Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS07624-MONOMER.
ZFISH:HS07624-MONOMER.
BRENDAi2.4.1.135. 2681.
ReactomeiR-HSA-1971475. A tetrasaccharide linker sequence is required for GAG synthesis.
SABIO-RKO94766.
UniPathwayiUPA00378.

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

HGNCiHGNC:923. B3GAT3.

Subcellular locationi

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

GO - Cellular componenti

  • cis-Golgi network Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: MGI
  • Golgi membrane Source: Reactome
  • integral component of membrane Source: UniProtKB
  • membrane Source: UniProtKB
Complete GO annotation...

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 Publication1
Natural variantiVAR_075371223G → S in JDSCD; unknown pathological significance. 1 PublicationCorresponds to variant rs372487178dbSNPEnsembl.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 rs387906937dbSNPEnsembl.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.

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...)1

Post-translational modificationi

N-glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiO94766.
MaxQBiO94766.
PaxDbiO94766.
PeptideAtlasiO94766.
PRIDEiO94766.

PTM databases

iPTMnetiO94766.

Expressioni

Tissue specificityi

Ubiquitous (but weakly expressed in all tissues examined).

Gene expression databases

BgeeiENSG00000149541.
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. 24 interactors.
IntActiO94766. 1 interactor.
STRINGi9606.ENSP00000265471.

Structurei

Secondary structure

1335
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi76 – 83Combined sources8
Helixi89 – 100Combined sources12
Beta strandi103 – 116Combined sources14
Helixi119 – 128Combined sources10
Beta strandi130 – 136Combined sources7
Helixi158 – 168Combined sources11
Beta strandi174 – 177Combined sources4
Beta strandi188 – 192Combined sources5
Beta strandi197 – 199Combined sources3
Helixi201 – 207Combined sources7
Beta strandi211 – 215Combined sources5
Beta strandi218 – 221Combined sources4
Beta strandi224 – 232Combined sources9
Beta strandi235 – 240Combined sources6
Helixi253 – 255Combined sources3
Beta strandi256 – 259Combined sources4
Helixi260 – 265Combined sources6
Helixi280 – 285Combined sources6
Turni286 – 288Combined sources3
Helixi291 – 293Combined sources3
Helixi298 – 301Combined sources4
Helixi317 – 323Combined sources7
Turni324 – 326Combined sources3

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...

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.
OMAiKEMRWTR.
OrthoDBiEOG091G0G8P.
PhylomeDBiO94766.
TreeFamiTF313522.

Family and domain databases

CDDicd00218. GlcAT-I. 1 hit.
Gene3Di3.90.550.10. 1 hit.
InterProiIPR005027. Glyco_trans_43.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR10896. PTHR10896. 1 hit.
PfamiPF03360. Glyco_transf_43. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

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

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 Publication1
Natural variantiVAR_075371223G → S in JDSCD; unknown pathological significance. 1 PublicationCorresponds to variant rs372487178dbSNPEnsembl.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 rs387906937dbSNPEnsembl.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

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. 24 interactors.
IntActiO94766. 1 interactor.
STRINGi9606.ENSP00000265471.

Protein family/group databases

CAZyiGT43. Glycosyltransferase Family 43.

PTM databases

iPTMnetiO94766.

Polymorphism and mutation databases

BioMutaiB3GAT3.

Proteomic databases

EPDiO94766.
MaxQBiO94766.
PaxDbiO94766.
PeptideAtlasiO94766.
PRIDEiO94766.

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.
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.
OMAiKEMRWTR.
OrthoDBiEOG091G0G8P.
PhylomeDBiO94766.
TreeFamiTF313522.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:HS07624-MONOMER.
ZFISH:HS07624-MONOMER.
BRENDAi2.4.1.135. 2681.
ReactomeiR-HSA-1971475. A tetrasaccharide linker sequence is required for GAG synthesis.
SABIO-RKO94766.

Miscellaneous databases

ChiTaRSiB3GAT3. human.
EvolutionaryTraceiO94766.
GeneWikiiB3GAT3.
GenomeRNAii26229.
PROiO94766.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149541.
CleanExiHS_B3GAT3.
ExpressionAtlasiO94766. baseline and differential.
GenevisibleiO94766. HS.

Family and domain databases

CDDicd00218. GlcAT-I. 1 hit.
Gene3Di3.90.550.10. 1 hit.
InterProiIPR005027. Glyco_trans_43.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR10896. PTHR10896. 1 hit.
PfamiPF03360. Glyco_transf_43. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiB3GA3_HUMAN
AccessioniPrimary (citable) accession number: O94766
Secondary accession number(s): B7ZAB3, Q96I06, Q9UEP0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: April 26, 2004
Last modified: November 30, 2016
This is version 165 of the entry and version 2 of the sequence. [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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.