SLC7A14
Summary: This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:615720 Ensembl IDEnsembl:ENSG00000013293 HGNC IDHGNC:HGNC:29326 PHARMGKB IDPA142670913 Map Location3q26.2 | |||||
GO terms in SLC7A14
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005765 | lysosomal membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| BP | IEA | GO:0006865 | amino acid transport |
| BP | IDA | GO:0010923 | negative regulation of phosphatase activity |
| BP | IEA | GO:0055085 | transmembrane transport |
| MF | IEA | GO:0022857 | transmembrane transporter activity |
Gene expression in normal tissue: SLC7A14
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC7A14
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC7A14
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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