InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SGK196

Summary

InnateDB Protein

IDBP-20681.5

Last Modified

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

Gene Symbol

SGK196

Protein Name

Protein kinase-like protein SgK196

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000331258

InnateDB Gene

IDBG-20679 (SGK196)

Protein Structure

UniProt Annotation

Function

Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N- acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif. {ECO:0000269PubMed:23519211, ECO:0000269PubMed:23929950}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.

Disease Associations

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]: 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:23519211}. 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 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0016773	phosphotransferase activity, alcohol group as acceptor
GO:0019200	carbohydrate kinase activity

Biological Process

GO:0001764	neuron migration
GO:0006468	protein phosphorylation
GO:0006493	protein O-linked glycosylation
GO:0007420	brain development
GO:0007611	learning or memory
GO:0019233	sensory perception of pain
GO:0046835	carbohydrate phosphorylation
GO:0050905	neuromuscular process