InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: B4GALT1

Summary

InnateDB Protein

IDBP-56703.6

Last Modified

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

Gene Symbol

B4GALT1

Protein Name

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1

Synonyms

B4GAL-T1; beta4Gal-T1; CDG2D; GGTB2; GT1; GTB;

Species

Homo sapiens

Ensembl Protein

ENSP00000369055

InnateDB Gene

IDBG-56701 (B4GALT1)

Protein Structure

UniProt Annotation

Function

The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix.

Subcellular Localization

Isoform Long: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein. Cell surface. Note=Found in trans cisternae of Golgi.Isoform Short: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Found in trans cisternae of Golgi.Processed beta-1,4-galactosyltransferase 1: Secreted. Note=Soluble form found in body fluids.

Disease Associations

Congenital disorder of glycosylation 2D (CDG2D) [MIM:607091]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed, but at very low levels in fetal and adult brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	2 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003831	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
GO:0003945	N-acetyllactosamine synthase activity
GO:0004461	lactose synthase activity
GO:0005515	protein binding
GO:0008092	cytoskeletal protein binding
GO:0008378	galactosyltransferase activity
GO:0030145	manganese ion binding
GO:0035250	UDP-galactosyltransferase activity
GO:0042803	protein homodimerization activity
GO:0043014	alpha-tubulin binding
GO:0048487	beta-tubulin binding

Biological Process

GO:0002064	epithelial cell development
GO:0002526	acute inflammatory response
GO:0005975	carbohydrate metabolic process
GO:0005989	lactose biosynthetic process
GO:0006012	galactose metabolic process
GO:0006486	protein glycosylation
GO:0006487	protein N-linked glycosylation
GO:0007155	cell adhesion
GO:0007219	Notch signaling pathway
GO:0007338	single fertilization
GO:0007339	binding of sperm to zona pellucida
GO:0007341	penetration of zona pellucida
GO:0008285	negative regulation of cell proliferation
GO:0009101	glycoprotein biosynthetic process
GO:0009312	oligosaccharide biosynthetic process
GO:0018146	keratan sulfate biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0030198	extracellular matrix organization
GO:0030203	glycosaminoglycan metabolic process
GO:0030879	mammary gland development
GO:0032504	multicellular organism reproduction
GO:0042060	wound healing
GO:0042127	regulation of cell proliferation
GO:0042339	keratan sulfate metabolic process
GO:0043065	positive regulation of apoptotic process
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule metabolic process
GO:0045136	development of secondary sexual characteristics
GO:0048754	branching morphogenesis of an epithelial tube
GO:0050900	leukocyte migration
GO:0051270	regulation of cellular component movement
GO:0060046	regulation of acrosome reaction
GO:0060054	positive regulation of epithelial cell proliferation involved in wound healing
GO:0060055	angiogenesis involved in wound healing
GO:0060058	positive regulation of apoptotic process involved in mammary gland involution

Cellular Component

GO:0000138	Golgi trans cisterna
GO:0000139	Golgi membrane
GO:0005615	extracellular space
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0009897	external side of plasma membrane
GO:0009986	cell surface
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0030057	desmosome
GO:0030112	glycocalyx
GO:0031526	brush border membrane
GO:0032580	Golgi cisterna membrane
GO:0070062	extracellular vesicular exosome