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O94766

- B3GA3_HUMAN

UniProt

O94766 - B3GA3_HUMAN

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Protein

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3

Gene
B3GAT3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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 activityi

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.

Cofactori

Manganese.

Enzyme regulationi

Inhibited by EDTA.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei113 – 1131UDP-glucuronate
Binding sitei156 – 1561UDP-glucuronate
Binding sitei161 – 1611UDP-glucuronate
Metal bindingi196 – 1961Manganese
Sitei227 – 2271Interaction with galactose moiety of substrate glycoprotein
Active sitei281 – 2811Proton donor/acceptor1 Publication
Sitei318 – 3181Interaction with galactose moiety of substrate glycoprotein

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi82 – 843UDP-glucuronate binding
Nucleotide bindingi194 – 1963UDP-glucuronate binding
Nucleotide bindingi308 – 3103UDP-glucuronate binding

GO - Molecular functioni

  1. galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity Source: UniProtKB
  2. glucuronosyltransferase activity Source: MGI
  3. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. chondroitin sulfate metabolic process Source: Reactome
  3. chondroitin sulfate proteoglycan biosynthetic process Source: MGI
  4. dermatan sulfate proteoglycan biosynthetic process Source: MGI
  5. glycosaminoglycan biosynthetic process Source: UniProtKB
  6. glycosaminoglycan metabolic process Source: Reactome
  7. heparan sulfate proteoglycan biosynthetic process Source: MGI
  8. protein glycosylation Source: UniProtKB-UniPathway
  9. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS07624-MONOMER.
ReactomeiREACT_121408. A tetrasaccharide linker sequence is required for GAG synthesis.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT43. Glycosyltransferase Family 43.

Names & Taxonomyi

Protein namesi
Recommended name:
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC:2.4.1.135)
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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:923. B3GAT3.

Subcellular locationi

Golgi apparatus membrane; Single-pass type II membrane protein. Golgi apparatuscis-Golgi network 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77Cytoplasmic Reviewed prediction
Transmembranei8 – 2821Helical; Signal-anchor for type II membrane protein; Reviewed predictionAdd
BLAST
Topological domaini29 – 335307Lumenal Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. cis-Golgi network Source: UniProtKB
  2. extracellular vesicular exosome Source: UniProt
  3. Golgi apparatus Source: MGI
  4. Golgi membrane Source: Reactome
  5. integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti277 – 2771R → Q in JDSSDHD; reduced activity; patient fibroblasts have decreased levels of dermatan sulfate, chondroitin sulfate and heparan sulfate proteoglycans. 1 Publication
VAR_066624

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi33 – 331C → A: Loss of dimer formation and reduced activity.
Mutagenesisi301 – 3011C → A: Enzyme inactivation and loss of glycosylation.

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi245600. phenotype.
Orphaneti284139. Larsen-like syndrome, B3GAT3 type.
PharmGKBiPA25217.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 335335Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3PRO_0000195176Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi33 – 33Interchain
Glycosylationi300 – 3001N-linked (GlcNAc...)

Post-translational modificationi

N-glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiO94766.
PaxDbiO94766.
PRIDEiO94766.

PTM databases

PhosphoSiteiO94766.

Expressioni

Tissue specificityi

Ubiquitous (but weakly expressed in all tissues examined).

Gene expression databases

ArrayExpressiO94766.
BgeeiO94766.
CleanExiHS_B3GAT3.
GenevestigatoriO94766.

Organism-specific databases

HPAiHPA051328.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.

Protein-protein interaction databases

BioGridi117620. 3 interactions.
IntActiO94766. 1 interaction.
STRINGi9606.ENSP00000265471.

Structurei

Secondary structure

1
335
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi76 – 838
Helixi89 – 10012
Beta strandi103 – 11614
Helixi119 – 12810
Beta strandi130 – 1367
Helixi158 – 16811
Beta strandi174 – 1774
Beta strandi188 – 1925
Beta strandi197 – 1993
Helixi201 – 2077
Beta strandi211 – 2155
Beta strandi218 – 2214
Beta strandi224 – 2329
Beta strandi235 – 2406
Helixi253 – 2553
Beta strandi256 – 2594
Helixi260 – 2656
Helixi280 – 2856
Turni286 – 2883
Helixi291 – 2933
Helixi298 – 3014
Helixi317 – 3237
Turni324 – 3263

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1FGGX-ray2.30A/B76-335[»]
1KWSX-ray2.10A/B76-335[»]
3CU0X-ray1.90A/B76-335[»]
ProteinModelPortaliO94766.
SMRiO94766. Positions 76-335.

Miscellaneous databases

EvolutionaryTraceiO94766.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni243 – 25210Interaction with galactose moiety of substrate glycoprotein

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG310844.
HOVERGENiHBG050650.
InParanoidiO94766.
KOiK10158.
OMAiPNAQFDS.
OrthoDBiEOG7QG44X.
PhylomeDBiO94766.
TreeFamiTF313522.

Family and domain databases

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.

Sequencei

Sequence statusi: Complete.

O94766-1 [UniParc]FASTAAdd to Basket

« Hide

MKLKLKNVFL AYFLVSIAGL LYALVQLGQP CDCLPPLRAA AEQLRQKDLR    50
ISQLQAELRR PPPAPAQPPE PEALPTIYVV TPTYARLVQK AELVRLSQTL 100
SLVPRLHWLL VEDAEGPTPL VSGLLAASGL LFTHLVVLTP KAQRLREGEP 150
GWVHPRGVEQ RNKALDWLRG RGGAVGGEKD PPPPGTQGVV YFADDDNTYS 200
RELFEEMRWT RGVSVWPVGL VGGLRFEGPQ VQDGRVVGFH TAWEPSRPFP 250
VDMAGFAVAL PLLLDKPNAQ FDSTAPRGHL ESSLLSHLVD PKDLEPRAAN 300
CTRVLVWHTR TEKPKMKQEE QLQRQGRGSD PAIEV 335
Length:335
Mass (Da):37,122
Last modified:April 26, 2004 - v2
Checksum:i5EC45408597F1C0F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti277 – 2771R → Q in JDSSDHD; reduced activity; patient fibroblasts have decreased levels of dermatan sulfate, chondroitin sulfate and heparan sulfate proteoglycans. 1 Publication
VAR_066624

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti204 – 2041F → S in BAA34537. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB009598 mRNA. Translation: BAA34537.1.
BC007906 mRNA. Translation: AAH07906.1.
BC071961 mRNA. Translation: AAH71961.1.
AJ005865 mRNA. Translation: CAA06742.1.
CCDSiCCDS8025.1.
RefSeqiNP_036332.2. NM_012200.3.
UniGeneiHs.502759.

Genome annotation databases

EnsembliENST00000265471; ENSP00000265471; ENSG00000149541.
GeneIDi26229.
KEGGihsa:26229.
UCSCiuc001ntw.3. human.

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB009598 mRNA. Translation: BAA34537.1 .
BC007906 mRNA. Translation: AAH07906.1 .
BC071961 mRNA. Translation: AAH71961.1 .
AJ005865 mRNA. Translation: CAA06742.1 .
CCDSi CCDS8025.1.
RefSeqi NP_036332.2. NM_012200.3.
UniGenei Hs.502759.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1FGG X-ray 2.30 A/B 76-335 [» ]
1KWS X-ray 2.10 A/B 76-335 [» ]
3CU0 X-ray 1.90 A/B 76-335 [» ]
ProteinModelPortali O94766.
SMRi O94766. Positions 76-335.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117620. 3 interactions.
IntActi O94766. 1 interaction.
STRINGi 9606.ENSP00000265471.

Protein family/group databases

CAZyi GT43. Glycosyltransferase Family 43.

PTM databases

PhosphoSitei O94766.

Proteomic databases

MaxQBi O94766.
PaxDbi O94766.
PRIDEi O94766.

Protocols and materials databases

DNASUi 26229.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265471 ; ENSP00000265471 ; ENSG00000149541 .
GeneIDi 26229.
KEGGi hsa:26229.
UCSCi uc001ntw.3. human.

Organism-specific databases

CTDi 26229.
GeneCardsi GC11M062429.
HGNCi HGNC:923. B3GAT3.
HPAi HPA051328.
MIMi 245600. phenotype.
606374. gene.
neXtProti NX_O94766.
Orphaneti 284139. Larsen-like syndrome, B3GAT3 type.
PharmGKBi PA25217.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG310844.
HOVERGENi HBG050650.
InParanoidi O94766.
KOi K10158.
OMAi PNAQFDS.
OrthoDBi EOG7QG44X.
PhylomeDBi O94766.
TreeFami TF313522.

Enzyme and pathway databases

UniPathwayi UPA00378 .
BioCyci MetaCyc:HS07624-MONOMER.
Reactomei REACT_121408. A tetrasaccharide linker sequence is required for GAG synthesis.

Miscellaneous databases

ChiTaRSi B3GAT3. human.
EvolutionaryTracei O94766.
GeneWikii B3GAT3.
GenomeRNAii 26229.
NextBioi 48391.
PROi O94766.
SOURCEi Search...

Gene expression databases

ArrayExpressi O94766.
Bgeei O94766.
CleanExi HS_B3GAT3.
Genevestigatori O94766.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR005027. Glyco_trans_43.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
PANTHERi PTHR10896. PTHR10896. 1 hit.
Pfami PF03360. Glyco_transf_43. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans."
    Kitagawa H., Tone Y., Tamura J., Neumann K.W., Ogawa T., Oka S., Kawasaki T., Sugahara K.
    J. Biol. Chem. 273:6615-6618(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION.
    Tissue: Placenta.
  2. "Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues."
    Ouzzine M., Gulberti S., Netter P., Magdalou J., Fournel-Gigleux S.
    J. Biol. Chem. 275:28254-28260(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION, MUTAGENESIS.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye and Skin.
  4. "Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway."
    Herman T., Horvitz H.R.
    Proc. Natl. Acad. Sci. U.S.A. 96:974-979(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-335.
    Tissue: Brain.
  5. "Characterization of recombinant human glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans."
    Tone Y., Kitagawa H., Imiya K., Oka S., Kawasaki T., Sugahara K.
    FEBS Lett. 459:415-420(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.
  6. Cited for: SUBCELLULAR LOCATION, VARIANT JDSSDHD GLN-277, CHARACTERIZATION OF VARIANT JDSSDHD GLN-277.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Heparan/chondroitin sulfate biosynthesis. Structure and mechanism of human glucuronyltransferase I."
    Pedersen L.C., Tsuchida K., Kitagawa H., Sugahara K., Darden T.A., Negishi M.
    J. Biol. Chem. 275:34580-34585(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.30 ANGSTROMS) OF 76-335 IN COMPLEX WITH UDP-GLUCURONIC ACID AND GALACTOSE MOIETY OF SUBSTRATE GLYCOPROTEIN.
    Tissue: Liver.
  9. "Crystal structure of beta 1,3-glucuronyltransferase I in complex with active donor substrate UDP-GlcUA."
    Pedersen L.C., Darden T.A., Negishi M.
    J. Biol. Chem. 277:21869-21873(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.10 ANGSTROMS) OF 76-335 IN COMPLEX WITH UDP-GLUCURONIC ACID, ACTIVE SITE.
  10. "2-o-phosphorylation of xylose and 6-O-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis."
    Tone Y., Pedersen L.C., Yamamoto T., Izumikawa T., Kitagawa H., Nishihara J., Tamura J., Negishi M., Sugahara K.
    J. Biol. Chem. 283:16801-16807(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.90 ANGSTROMS) OF 76-335 IN COMPLEX WITH URIDINE-5'-DIPHOSPHATE AND GALACTOSE MOIETY OF SUBSTRATE GLYCOPROTEIN.

Entry informationi

Entry nameiB3GA3_HUMAN
AccessioniPrimary (citable) accession number: O94766
Secondary accession number(s): Q96I06, Q9UEP0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: April 26, 2004
Last modified: September 3, 2014
This is version 143 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

External Data

Dasty 3

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