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O43505

- B3GN1_HUMAN

UniProt

O43505 - B3GN1_HUMAN

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Protein

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

Gene
B3GNT1, B3GNT6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Can initiate the synthesis or the elongation of the linear poly-N-acetyllactosaminoglycans. Involved in alpha-dystroglycan (DAG1) glycosylation.2 Publications

Catalytic activityi

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.

Pathwayi

GO - Molecular functioni

  1. 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. poly-N-acetyllactosamine biosynthetic process Source: UniProtKB
  7. protein glycosylation Source: UniProtKB-UniPathway
  8. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

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:
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 namesi
Name:B3GNT1
Synonyms:B3GNT6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:15685. B3GNT1.

Subcellular locationi

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 88Cytoplasmic Reviewed prediction
Transmembranei9 – 3628Helical; Signal-anchor for type II membrane protein; Reviewed predictionAdd
BLAST
Topological domaini37 – 415379Lumenal Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. Golgi membrane Source: Reactome
  3. 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 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.1 Publication
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

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 – 415415N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferasePRO_0000080555Add
BLAST

Amino acid modifications

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

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

ArrayExpressiO43505.
BgeeiO43505.
CleanExiHS_B3GNT1.
HS_B3GNT6.
GenevestigatoriO43505.

Organism-specific databases

HPAiHPA015484.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliO43505.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG325995.
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

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MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP    50
PSPRSVDQVK AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH 100
ASVDNLLHLS GLLERWEGPL SVSVFAATKE EAQLATVLAY ALSSHCPDMR 150
ARVAMHLVCP SRYEAAVPDP REPGEFALLR SCQEVFDKLA RVAQPGINYA 200
LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL REMLDQSNQW 250
GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN 300
YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI 350
SQACELHVAG FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF 400
KQELKAKYPN SPRRC 415
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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
AF029893 mRNA. Translation: AAC39538.1 .
DQ066422 Genomic DNA. Translation: AAY46155.1 .
BC021965 mRNA. Translation: AAH21965.1 .
CCDSi CCDS8136.1.
RefSeqi NP_006867.1. NM_006876.2.
UniGenei Hs.8526.

3D structure databases

ProteinModelPortali O43505.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116229. 4 interactions.
DIPi DIP-48921N.
IntActi O43505. 1 interaction.

Protein family/group databases

CAZyi GT49. Glycosyltransferase Family 49.

PTM databases

PhosphoSitei O43505.

Proteomic databases

MaxQBi O43505.
PaxDbi O43505.
PeptideAtlasi O43505.
PRIDEi O43505.

Protocols and materials databases

DNASUi 11041.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000311181 ; ENSP00000309096 ; ENSG00000174684 .
GeneIDi 11041.
KEGGi hsa:11041.
UCSCi uc001ohr.3. human.

Organism-specific databases

CTDi 11041.
GeneCardsi GC11M066112.
HGNCi HGNC:15685. B3GNT1.
HPAi HPA015484.
MIMi 605517. gene.
615287. phenotype.
neXtProti NX_O43505.
Orphaneti 899. Walker-Warburg syndrome.
PharmGKBi PA164741279.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG325995.
HOGENOMi HOG000064521.
HOVERGENi HBG080885.
InParanoidi O43505.
KOi K00741.
OMAi MPMSKTE.
OrthoDBi EOG7PVWPF.
PhylomeDBi O43505.
TreeFami TF319168.

Enzyme and pathway databases

UniPathwayi UPA00378 .
BioCyci MetaCyc:HS10821-MONOMER.
Reactomei REACT_121120. Keratan sulfate biosynthesis.

Miscellaneous databases

GeneWikii B3GNT1.
GenomeRNAii 11041.
NextBioi 41959.
PROi O43505.
SOURCEi Search...

Gene expression databases

ArrayExpressi O43505.
Bgeei O43505.
CleanExi HS_B3GNT1.
HS_B3GNT6.
Genevestigatori O43505.

Family and domain databases

InterProi IPR026603. N-AclacN_B-1_3-N-AclacNTrfase.
[Graphical view ]
PANTHERi PTHR12270:SF20. PTHR12270:SF20. 1 hit.
ProtoNeti Search...

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], 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. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MDDGA13 ASP-390 AND VAL-406.

Entry informationi

Entry nameiB3GN1_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: September 3, 2014
This is version 108 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

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

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