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 i... See more...

Aliases for POMK Gene

Aliases for POMK Gene

  • Protein O-Mannose Kinase 2 3 4 5
  • Protein Kinase-Like Protein SgK196 3 4
  • Sugen Kinase 196 3 4
  • SGK196 3 4
  • Probable Inactive Protein Kinase-Like Protein SgK196 3
  • EC 2.7.1.183 4
  • MDDGA12 3
  • MDDGC12 3

External Ids for POMK Gene

Previous GeneCards Identifiers for POMK Gene

  • GC08P042949

Summaries for POMK Gene

Entrez Gene Summary for POMK Gene

  • 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]

GeneCards Summary for POMK Gene

POMK (Protein O-Mannose Kinase) is a Protein Coding gene. Diseases associated with POMK include Muscular Dystrophy-Dystroglycanopathy , Type C, 12 and Muscular Dystrophy-Dystroglycanopathy , Type A, 12. Among its related pathways are Metabolism of proteins and Mannose type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and phosphotransferase activity, alcohol group as acceptor.

UniProtKB/Swiss-Prot Summary for POMK Gene

  • 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.

Additional gene information for POMK Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POMK Gene

Genomics for POMK Gene

GeneHancer (GH) Regulatory Elements for POMK Gene

Promoters and enhancers for POMK Gene