Tbio POMK Protein O-mannose kinase

Protein Summary

Description

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. This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Uniprot Accession IDs

• Q9H5K3
• POMK

Gene Name

• POMK

Ensembl ID

• ENST00000331373
• ENSP00000331258
• ENSG00000185900
• ENST00000614426
• ENSP00000478821

Symbol

• SGK196
• SGK196
• MDDGA12
• MDDGC12

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.9
histone modification site profile	0.79
tissue sample	0.66
cell line	0.61
transcription factor binding site profile	0.56

Protein Classes

DTO Classes

Protein / Kinase / Protein Kinase / Other Group / Other-unique Family / Protein O-mannose Kinase

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 13.14   (req: < 5)

Gene RIFs: 5   (req: <= 3)

Antibodies: 208   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 13.14   (req: >= 5)

Gene RIFs: 5   (req: > 3)

Antibodies: 208   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0