InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: B3GNT1

Summary

InnateDB Protein

IDBP-58925.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

B3GNT1

Protein Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1

Synonyms

B3GN-T1; B3GNT6; BETA3GNTI; iGAT; iGNT; MDDGA13;

Species

Homo sapiens

Ensembl Protein

ENSP00000309096

InnateDB Gene

IDBG-58923 (B3GNT1)

Protein Structure

UniProt Annotation

Function

Can initiate the synthesis or the elongation of the linear poly-N-acetyllactosaminoglycans. Involved in alpha- dystroglycan (DAG1) glycosylation. {ECO:0000269PubMed:23359570, ECO:0000269PubMed:9405606}.

Subcellular Localization

Golgi apparatus membrane {ECO:0000269PubMed:23359570}; Single-pass type II membrane protein {ECO:0000269PubMed:23359570}.

Disease Associations

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. {ECO:0000269PubMed:23359570}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:9405606}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	5 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008532	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006486	protein glycosylation
GO:0007411	axon guidance
GO:0018146	keratan sulfate biosynthetic process
GO:0030203	glycosaminoglycan metabolic process
GO:0030311	poly-N-acetyllactosamine biosynthetic process
GO:0042339	keratan sulfate metabolic process
GO:0044281	small molecule metabolic process