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Protein

Beta-1,4-glucuronyltransferase 1

Gene

B4GAT1

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

Functioni

Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279699, PubMed:25279697). Phosphorylated O-mannosyl glycan is a carbohydrate is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279699, PubMed:25279697). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity).By similarity4 Publications

Cofactori

Mn2+1 Publication

pH dependencei

Optimum pH is 7.0.1 Publication

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi227 – 2271Manganese1 Publication
Metal bindingi229 – 2291Manganese1 Publication

GO - Molecular functioni

  1. glucuronosyltransferase activity Source: UniProtKB
  2. metal ion binding Source: UniProtKB-KW
  3. N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity Source: UniProtKB

GO - Biological processi

  1. axon guidance Source: Ensembl
  2. carbohydrate metabolic process Source: Reactome
  3. glycosaminoglycan metabolic process Source: Reactome
  4. keratan sulfate biosynthetic process Source: Reactome
  5. keratan sulfate metabolic process Source: Reactome
  6. pathogenesis Source: Reactome
  7. poly-N-acetyllactosamine biosynthetic process Source: UniProtKB
  8. protein O-linked mannosylation Source: UniProtKB
  9. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS10821-MONOMER.
ReactomeiREACT_121120. Keratan sulfate biosynthesis.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT49. Glycosyltransferase Family 49.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,4-glucuronyltransferase 1Imported2 Publications (EC:2.4.1.-2 Publications)
Alternative name(s):
I-beta-1,3-N-acetylglucosaminyltransferase
Short name:
iGnT
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
Poly-N-acetyllactosamine extension enzyme
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
Gene namesi
Name:B4GAT1Imported2 Publications
Synonyms:B3GNT1Imported, B3GNT6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:15685. B4GAT1.

Subcellular locationi

Golgi apparatus membrane 3 Publications; Single-pass type II membrane protein 1 Publication
Note: Localizes near the trans-Golgi apparatus.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 88CytoplasmicSequence Analysis
Transmembranei9 – 3628Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini37 – 415379LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
  2. Golgi apparatus Source: UniProtKB
  3. Golgi membrane Source: Reactome
  4. integral component of Golgi membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A132 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.

See also OMIM:615287
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti390 – 3901N → D in MDDGA13. 1 Publication
VAR_069989
Natural varianti406 – 4061A → V in MDDGA13. 1 Publication
VAR_069990

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi155 – 1551M → T in Mut3; mislocalization to the endoplasmic reticulum. 1 Publication
Mutagenesisi227 – 2293DVD → NVN in Mut2; mislocalization to the endoplasmic reticulum. 1 Publication

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

MIMi615287. phenotype.
Orphaneti899. Walker-Warburg syndrome.
PharmGKBiPA164741279.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 415415Beta-1,4-glucuronyltransferase 1PRO_0000080555Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi204 – 2041N-linked (GlcNAc...)Sequence Analysis
Glycosylationi300 – 3001N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO43505.
PaxDbiO43505.
PeptideAtlasiO43505.
PRIDEiO43505.

PTM databases

PhosphoSiteiO43505.

Expressioni

Tissue specificityi

In the adult, highly expressed in heart, brain, skeletal muscle and kidney and to a lesser extent in placenta, pancreas, spleen, prostate, testis, ovary, small intestine and colon. Very weak expression in lung, liver, thymus and peripheral blood leukocytes. In fetal highly expressed in brain and kidney and to a lesser extent in lung and liver.1 Publication

Gene expression databases

BgeeiO43505.
CleanExiHS_B3GNT1.
HS_B3GNT6.
ExpressionAtlasiO43505. baseline and differential.
GenevestigatoriO43505.

Organism-specific databases

HPAiHPA015484.

Interactioni

Subunit structurei

Interacts with LARGE and GYLTL1B/LARGE2.1 Publication

Protein-protein interaction databases

BioGridi116229. 4 interactions.
DIPiDIP-48921N.
IntActiO43505. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliO43505.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 49 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG325995.
GeneTreeiENSGT00530000063165.
HOGENOMiHOG000064521.
HOVERGENiHBG080885.
InParanoidiO43505.
KOiK00741.
OMAiMPMSKTE.
OrthoDBiEOG7PVWPF.
PhylomeDBiO43505.
TreeFamiTF319168.

Family and domain databases

InterProiIPR026603. N-AclacN_B-1_3-N-AclacNTrfase.
[Graphical view]
PANTHERiPTHR12270:SF20. PTHR12270:SF20. 1 hit.

Sequencei

Sequence statusi: Complete.

O43505-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP
60 70 80 90 100
PSPRSVDQVK AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH
110 120 130 140 150
ASVDNLLHLS GLLERWEGPL SVSVFAATKE EAQLATVLAY ALSSHCPDMR
160 170 180 190 200
ARVAMHLVCP SRYEAAVPDP REPGEFALLR SCQEVFDKLA RVAQPGINYA
210 220 230 240 250
LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL REMLDQSNQW
260 270 280 290 300
GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN
310 320 330 340 350
YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI
360 370 380 390 400
SQACELHVAG FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF
410
KQELKAKYPN SPRRC
Length:415
Mass (Da):47,119
Last modified:June 1, 1998 - v1
Checksum:i432D00980EFE2B35
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti253 – 2531T → S.1 Publication
Corresponds to variant rs35429253 [ dbSNP | Ensembl ].
VAR_025019
Natural varianti390 – 3901N → D in MDDGA13. 1 Publication
VAR_069989
Natural varianti406 – 4061A → V in MDDGA13. 1 Publication
VAR_069990

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF029893 mRNA. Translation: AAC39538.1.
DQ066422 Genomic DNA. Translation: AAY46155.1.
BC021965 mRNA. Translation: AAH21965.1.
CCDSiCCDS8136.1.
RefSeqiNP_006867.1. NM_006876.2.
UniGeneiHs.8526.

Genome annotation databases

EnsembliENST00000311181; ENSP00000309096; ENSG00000174684.
GeneIDi11041.
KEGGihsa:11041.
UCSCiuc001ohr.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

SeattleSNPs
Functional Glycomics Gateway - GTase

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF029893 mRNA. Translation: AAC39538.1.
DQ066422 Genomic DNA. Translation: AAY46155.1.
BC021965 mRNA. Translation: AAH21965.1.
CCDSiCCDS8136.1.
RefSeqiNP_006867.1. NM_006876.2.
UniGeneiHs.8526.

3D structure databases

ProteinModelPortaliO43505.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116229. 4 interactions.
DIPiDIP-48921N.
IntActiO43505. 1 interaction.

Protein family/group databases

CAZyiGT49. Glycosyltransferase Family 49.

PTM databases

PhosphoSiteiO43505.

Proteomic databases

MaxQBiO43505.
PaxDbiO43505.
PeptideAtlasiO43505.
PRIDEiO43505.

Protocols and materials databases

DNASUi11041.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311181; ENSP00000309096; ENSG00000174684.
GeneIDi11041.
KEGGihsa:11041.
UCSCiuc001ohr.3. human.

Organism-specific databases

CTDi11041.
GeneCardsiGC11M066112.
HGNCiHGNC:15685. B4GAT1.
HPAiHPA015484.
MIMi605517. gene.
615287. phenotype.
neXtProtiNX_O43505.
Orphaneti899. Walker-Warburg syndrome.
PharmGKBiPA164741279.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG325995.
GeneTreeiENSGT00530000063165.
HOGENOMiHOG000064521.
HOVERGENiHBG080885.
InParanoidiO43505.
KOiK00741.
OMAiMPMSKTE.
OrthoDBiEOG7PVWPF.
PhylomeDBiO43505.
TreeFamiTF319168.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:HS10821-MONOMER.
ReactomeiREACT_121120. Keratan sulfate biosynthesis.

Miscellaneous databases

GeneWikiiB3GNT1.
GenomeRNAii11041.
NextBioi41959.
PROiO43505.
SOURCEiSearch...

Gene expression databases

BgeeiO43505.
CleanExiHS_B3GNT1.
HS_B3GNT6.
ExpressionAtlasiO43505. baseline and differential.
GenevestigatoriO43505.

Family and domain databases

InterProiIPR026603. N-AclacN_B-1_3-N-AclacNTrfase.
[Graphical view]
PANTHERiPTHR12270:SF20. PTHR12270:SF20. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis."
    Sasaki K., Kurata-Miura K., Ujita M., Angata K., Nakagawa S., Sekine S., Nishi T., Fukuda M.
    Proc. Natl. Acad. Sci. U.S.A. 94:14294-14299(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. SeattleSNPs variation discovery resource
    Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-253.
  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: Colon.
  4. "Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase."
    Bao X., Kobayashi M., Hatakeyama S., Angata K., Gullberg D., Nakayama J., Fukuda M.N., Fukuda M.
    Proc. Natl. Acad. Sci. U.S.A. 106:12109-12114(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH LARGE AND GYLTL1B.
  5. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MDDGA13 ASP-390 AND VAL-406.
  6. "A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome."
    Shaheen R., Faqeih E., Ansari S., Alkuraya F.S.
    Neurogenetics 14:243-245(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MDDGA13.
  7. "The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation."
    Willer T., Inamori K.I., Venzke D., Harvey C., Morgensen G., Hara Y., Beltran Valero de Bernabe D., Yu L., Wright K.M., Campbell K.P.
    Elife 3:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBCELLULAR LOCATION, PATHWAY, COFACTOR, BIOPHYSICOCHEMICAL PROPERTIES, MUTAGENESIS OF MET-155 AND 227-ASP--ASP-229.
  8. "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan."
    Praissman J.L., Live D.H., Wang S., Ramiah A., Chinoy Z.S., Boons G.J., Moremen K.W., Wells L.
    Elife 3:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, PATHWAY.

Entry informationi

Entry nameiB4GA1_HUMAN
AccessioniPrimary (citable) accession number: O43505
Secondary accession number(s): Q4TTN0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: June 1, 1998
Last modified: March 4, 2015
This is version 113 of the entry and version 1 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

Caution

Was initially characterized as a beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine, able to initiate the synthesis or the elongation of the linear poly-N-acetyllactosaminoglycans (PubMed:9405606). However, it was later shown that it acts as a beta-1,4-glucuronyltransferase (PubMed:25279699, PubMed:25279697).2 Publications1 Publication

Keywords - Technical termi

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.