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Protein

Beta-1,4-glucuronyltransferase 1

Gene

B4GAT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 LARGE1, 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

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).1 Publication2 Publications

Cofactori

Mn2+1 Publication

pH dependencei

Optimum pH is 7.0.1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.3 Publications
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
Metal bindingi227Manganese1 Publication1
Metal bindingi229Manganese1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS10821-MONOMER
BRENDAi2.4.1.149 2681
ReactomeiR-HSA-2022854 Keratan sulfate biosynthesis
R-HSA-5173105 O-linked glycosylation
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT49 Glycosyltransferase Family 49

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,4-glucuronyltransferase 12 PublicationsImported (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:B4GAT12 PublicationsImported
Synonyms:B3GNT1Imported, B3GNT6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000174684.6
HGNCiHGNC:15685 B4GAT1
MIMi605517 gene
neXtProtiNX_O43505

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 – 8CytoplasmicSequence analysis8
Transmembranei9 – 36Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST28
Topological domaini37 – 415LumenalSequence analysisAdd BLAST379

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13)2 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_069989390N → D in MDDGA13. 1 PublicationCorresponds to variant dbSNP:rs397509397Ensembl.1
Natural variantiVAR_069990406A → V in MDDGA13. 1 PublicationCorresponds to variant dbSNP:rs397509396Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi155M → T in Mut3; mislocalization to the endoplasmic reticulum. 1 Publication1
Mutagenesisi227 – 229DVD → NVN in Mut2; mislocalization to the endoplasmic reticulum. 1 Publication3

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

DisGeNETi11041
MalaCardsiB4GAT1
MIMi615287 phenotype
OpenTargetsiENSG00000174684
Orphaneti899 Walker-Warburg syndrome
PharmGKBiPA164741279

Polymorphism and mutation databases

BioMutaiB3GNT1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000805551 – 415Beta-1,4-glucuronyltransferase 1Add BLAST415

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi204N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi300N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO43505
MaxQBiO43505
PaxDbiO43505
PeptideAtlasiO43505
PRIDEiO43505

PTM databases

iPTMnetiO43505
PhosphoSitePlusiO43505
SwissPalmiO43505

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

BgeeiENSG00000174684
CleanExiHS_B3GNT1
HS_B3GNT6
ExpressionAtlasiO43505 baseline and differential
GenevisibleiO43505 HS

Organism-specific databases

HPAiHPA015484

Interactioni

Subunit structurei

Interacts with LARGE1 and LARGE2.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi11622951 interactors.
DIPiDIP-48921N
IntActiO43505 5 interactors.
MINTiO43505
STRINGi9606.ENSP00000309096

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

eggNOGiKOG3765 Eukaryota
ENOG410XRNY LUCA
GeneTreeiENSGT00530000063165
HOGENOMiHOG000064521
HOVERGENiHBG080885
InParanoidiO43505
KOiK21032
OMAiEVRPFYE
OrthoDBiEOG091G0K0J
PhylomeDBiO43505
TreeFamiTF319168

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_025019253T → S1 PublicationCorresponds to variant dbSNP:rs35429253Ensembl.1
Natural variantiVAR_069989390N → D in MDDGA13. 1 PublicationCorresponds to variant dbSNP:rs397509397Ensembl.1
Natural variantiVAR_069990406A → V in MDDGA13. 1 PublicationCorresponds to variant dbSNP:rs397509396Ensembl.1

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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiB4GA1_HUMAN
AccessioniPrimary (citable) accession number: O43505
Secondary accession number(s): Q4TTN0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: June 1, 1998
Last modified: March 28, 2018
This is version 139 of the entry and version 1 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

Complete proteome, Reference proteome