POMK
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:615247 Ensembl IDEnsembl:ENSG00000185900 HGNC IDHGNC:HGNC:26267 PHARMGKB IDPA166123723 Map Location8p11.21 | |||||
GO terms in POMK
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0004672 | protein kinase activity |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0016773 | phosphotransferase activity, alcohol group as acceptor |
| MF | IDA | GO:0016773 | phosphotransferase activity, alcohol group as acceptor |
| MF | IBA | GO:0019200 | carbohydrate kinase activity |
| MF | TAS | GO:0019200 | carbohydrate kinase activity |
Gene expression in normal tissue: POMK
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in POMK
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00515 | Mannose type O-glycan biosynthesis - Homo sapiens (human) |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5173105 | O-linked glycosylation |
| reactome | R-HSA-597592 | Post-translational protein modification |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in POMK
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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