InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: B4GALNT1

Summary

InnateDB Protein

IDBP-43234.5

Last Modified

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

Gene Symbol

B4GALNT1

Protein Name

beta-1,4-N-acetyl-galactosaminyl transferase 1

Synonyms

GALGT; GalNAc-T; GALNACT; SPG26;

Species

Homo sapiens

Ensembl Protein

ENSP00000341562

InnateDB Gene

IDBG-43230 (B4GALNT1)

Protein Structure

UniProt Annotation

Function

Involved in the biosynthesis of gangliosides GM2, GD2 and GA2.

Subcellular Localization

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

Disease Associations

Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive. {ECO:0000269PubMed:23746551}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

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

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003947	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity
GO:0008376	acetylgalactosaminyltransferase activity
GO:0016758	transferase activity, transferring hexosyl groups

Biological Process

GO:0001574	ganglioside biosynthetic process
GO:0005975	carbohydrate metabolic process
GO:0006486	protein glycosylation
GO:0006687	glycosphingolipid metabolic process
GO:0007283	spermatogenesis
GO:0008219	cell death
GO:0019915	lipid storage
GO:0030259	lipid glycosylation