InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ST3GAL3

Summary

InnateDB Protein

IDBP-597301.3

Last Modified

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

Gene Symbol

ST3GAL3

Protein Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 3

Synonyms

EIEE15; MRT12; SIAT6; ST3GALII; ST3GalIII; ST3N;

Species

Homo sapiens

Ensembl Protein

ENSP00000435621

InnateDB Gene

IDBG-97520 (ST3GAL3)

Protein Structure

UniProt Annotation

Function

Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta- 1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- or NeuAc-alpha- 2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3- GalNAc (By similarity). {ECO:0000250}.

Subcellular Localization

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Membrane- bound form in trans cisternae of Golgi. Secreted into the body fluid.

Disease Associations

Mental retardation, autosomal recessive 12 (MRT12) [MIM:611090]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:21907012}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epileptic encephalopathy, early infantile, 15 (EIEE15) [MIM:615006]: A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome. {ECO:0000269PubMed:23252400}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008118	N-acetyllactosaminide alpha-2,3-sialyltransferase activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0016266	O-glycan processing
GO:0018146	keratan sulfate biosynthetic process
GO:0030203	glycosaminoglycan metabolic process
GO:0042339	keratan sulfate metabolic process
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule metabolic process
GO:0097503	sialylation