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 |
|---|---|---|---|---|---|
| protein-O-mannose kinase | MIM:615247 | Ensembl:ENSG00000185900 | HGNC:HGNC:26267 | PA166123723 | 8p11.21 |
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 |
| CC | IBA | GO:0005789 | endoplasmic reticulum membrane |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| BP | IEA | GO:0001764 | neuron migration |
| BP | IEA | GO:0006468 | protein phosphorylation |
| BP | IBA | GO:0006493 | protein O-linked glycosylation |
| BP | IDA | GO:0006493 | protein O-linked glycosylation |
| BP | TAS | GO:0006493 | protein O-linked glycosylation |
| BP | TAS | GO:0007420 | brain development |
| BP | IEA | GO:0007611 | learning or memory |
| BP | IEA | GO:0019233 | sensory perception of pain |
| BP | IBA | GO:0046835 | carbohydrate phosphorylation |
| BP | IDA | GO:0046835 | carbohydrate phosphorylation |
| BP | IEA | GO:0050905 | neuromuscular process |
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
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD887 | Compound 23 citrate | 1 |
| iGMDRD329 | Merck60 | 1 |
| iGMDRD577 | BIX01294 | 2 |
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD398 | Sepantronium | 2 |
| iGMDRD61 | Kinetin riboside | 4 |
| iGMDRD147 | Prima-1 | 1 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD512 | nutlin 3 | 5 |
| iGMDRD772 | BRD4770 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in POMK
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.