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O43505 (B3GN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase

EC=2.4.1.149
Alternative name(s):
I-beta-1,3-N-acetylglucosaminyltransferase
Short name=iGnT
Poly-N-acetyllactosamine extension enzyme
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
Gene names
Name:B3GNT1
Synonyms:B3GNT6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length415 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Can initiate the synthesis or the elongation of the linear poly-N-acetyllactosaminoglycans. Involved in alpha-dystroglycan (DAG1) glycosylation. Ref.1 Ref.4

Catalytic activity

UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein Ref.4.

Tissue specificity

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. Ref.1

Involvement in disease

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the glycosyltransferase 49 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 415415N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
PRO_0000080555

Regions

Topological domain1 – 88Cytoplasmic Potential
Transmembrane9 – 3628Helical; Signal-anchor for type II membrane protein; Potential
Topological domain37 – 415379Lumenal Potential

Amino acid modifications

Glycosylation2041N-linked (GlcNAc...) Potential
Glycosylation3001N-linked (GlcNAc...) Potential

Natural variations

Natural variant2531T → S. Ref.2
Corresponds to variant rs35429253 [ dbSNP | Ensembl ].
VAR_025019
Natural variant3901N → D in MDDGA13. Ref.4
VAR_069989
Natural variant4061A → V in MDDGA13. Ref.4
VAR_069990

Sequences

Sequence LengthMass (Da)Tools
O43505 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 432D00980EFE2B35

FASTA41547,119
        10         20         30         40         50         60 
MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP PSPRSVDQVK 

        70         80         90        100        110        120 
AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH ASVDNLLHLS GLLERWEGPL 

       130        140        150        160        170        180 
SVSVFAATKE EAQLATVLAY ALSSHCPDMR ARVAMHLVCP SRYEAAVPDP REPGEFALLR 

       190        200        210        220        230        240 
SCQEVFDKLA RVAQPGINYA LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL 

       250        260        270        280        290        300 
REMLDQSNQW GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN 

       310        320        330        340        350        360 
YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI SQACELHVAG 

       370        380        390        400        410 
FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF KQELKAKYPN SPRRC 

« Hide

References

« Hide 'large scale' references
[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], FUNCTION, 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]"Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome."
Buysse K., Riemersma M., Powell G., van Reeuwijk J., Chitayat D., Roscioli T., Kamsteeg E.J., van den Elzen C., van Beusekom E., Blaser S., Babul-Hirji R., Halliday W., Wright G.J., Stemple D.L., Lin Y.Y., Lefeber D.J., van Bokhoven H.
Hum. Mol. Genet. 22:1746-1754(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MDDGA13 ASP-390 AND VAL-406.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

SeattleSNPs
Functional Glycomics Gateway - GTase

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

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF029893 mRNA. Translation: AAC39538.1.
DQ066422 Genomic DNA. Translation: AAY46155.1.
BC021965 mRNA. Translation: AAH21965.1.
CCDSCCDS8136.1.
RefSeqNP_006867.1. NM_006876.2.
UniGeneHs.8526.

3D structure databases

ProteinModelPortalO43505.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116229. 4 interactions.
DIPDIP-48921N.
IntActO43505. 1 interaction.

Protein family/group databases

CAZyGT49. Glycosyltransferase Family 49.

PTM databases

PhosphoSiteO43505.

Proteomic databases

MaxQBO43505.
PaxDbO43505.
PeptideAtlasO43505.
PRIDEO43505.

Protocols and materials databases

DNASU11041.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311181; ENSP00000309096; ENSG00000174684.
GeneID11041.
KEGGhsa:11041.
UCSCuc001ohr.3. human.

Organism-specific databases

CTD11041.
GeneCardsGC11M066112.
HGNCHGNC:15685. B3GNT1.
HPAHPA015484.
MIM605517. gene.
615287. phenotype.
neXtProtNX_O43505.
Orphanet899. Walker-Warburg syndrome.
PharmGKBPA164741279.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325995.
HOGENOMHOG000064521.
HOVERGENHBG080885.
InParanoidO43505.
KOK00741.
OMAMPMSKTE.
OrthoDBEOG7PVWPF.
PhylomeDBO43505.
TreeFamTF319168.

Enzyme and pathway databases

BioCycMetaCyc:HS10821-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressO43505.
BgeeO43505.
CleanExHS_B3GNT1.
HS_B3GNT6.
GenevestigatorO43505.

Family and domain databases

InterProIPR026603. N-AclacN_B-1_3-N-AclacNTrfase.
[Graphical view]
PANTHERPTHR12270:SF20. PTHR12270:SF20. 1 hit.
ProtoNetSearch...

Other

GeneWikiB3GNT1.
GenomeRNAi11041.
NextBio41959.
PROO43505.
SOURCESearch...

Entry information

Entry nameB3GN1_HUMAN
AccessionPrimary (citable) accession number: O43505
Secondary accession number(s): Q4TTN0
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: June 1, 1998
Last modified: July 9, 2014
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM