SLC6A6
Summary: This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| solute carrier family 6 member 6 | MIM:186854 | Ensembl:ENSG00000131389 | HGNC:HGNC:11052 | PA35912 | 3p25.1 |
GO terms in SLC6A6
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005215 | transporter activity |
| MF | IEA | GO:0005328 | neurotransmitter:sodium symporter activity |
| MF | IBA | GO:0005369 | taurine:sodium symporter activity |
| MF | TAS | GO:0015171 | amino acid transmembrane transporter activity |
| BP | TAS | GO:0006520 | cellular amino acid metabolic process |
| BP | IEA | GO:0006836 | neurotransmitter transport |
| BP | TAS | GO:0006865 | amino acid transport |
| BP | IBA | GO:0015734 | taurine 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: SLC6A6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC6A6
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP2884 | NRF2 pathway |
| reactome | R-HSA-352230 | Amino acid transport across the plasma membrane |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-425366 | Transport of bile salts and organic acids, metal ions and amine compounds |
| reactome | R-HSA-425393 | Transport of inorganic cations/anions and amino acids/oligopeptides |
| reactome | R-HSA-425407 | SLC-mediated transmembrane transport |
| reactome | R-HSA-442660 | Na+/Cl- dependent neurotransmitter transporters |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC6A6
CLASSFICATION
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