SLC6A8
Summary: The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| solute carrier family 6 member 8 | MIM:300036 | Ensembl:ENSG00000130821 | HGNC:HGNC:11055 | PA35915 | Xq28 |
GO terms in SLC6A8
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ND | GO:0003674 | molecular_function |
| MF | IBA | GO:0005215 | transporter activity |
| MF | NAS | GO:0005308 | creatine transmembrane transporter activity |
| MF | IBA | GO:0005309 | creatine:sodium symporter activity |
| MF | TAS | GO:0005309 | creatine:sodium symporter activity |
| MF | IEA | GO:0005328 | neurotransmitter:sodium symporter activity |
| MF | IBA | GO:0015220 | choline transmembrane transporter activity |
| BP | TAS | GO:0006600 | creatine metabolic process |
| BP | IEA | GO:0006814 | sodium ion transport |
| BP | IEA | GO:0006836 | neurotransmitter transport |
| BP | TAS | GO:0006936 | muscle contraction |
| BP | IMP | GO:0015881 | creatine transmembrane transport |
| BP | NAS | GO:0015881 | creatine transmembrane transport |
| BP | IBA | GO:0035725 | sodium ion transmembrane transport |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0016021 | integral component of membrane |
Gene expression in normal tissue: SLC6A8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC6A8
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-351202 | Metabolism of polyamines |
| reactome | R-HSA-71288 | Creatine metabolism |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP2884 | NRF2 pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD451 | Serdemetan | 2 |
| iGMDRD300 | Tozasertib | 1 |
| iGMDRD886 | Compound 1541A | 2 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD341 | Triacsin c | 1 |
| iGMDRD781 | Sirolimus | 1 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD148 | Pifithrin-mu | 1 |
| iGMDRD227 | Fatostatin A | 5 |
| iGMDRD474 | Avrainvillamide | 1 |
| iGMDRD48 | Dexamethasone | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC6A8
CLASSFICATION
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