SLC7A14: Solute Carrier Family 7 Member 14
A lysosomal cationic amino acid transporter implicated in autosomal recessive retinitis pigmentosa
Gene Information Card
| Symbol | SLC7A14 |
|---|---|
| Full Name | Solute Carrier Family 7 Member 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q26.2 |
| NCBI Gene ID | 57709 ncbi.nlm.nih.gov/gene/57709 |
| Ensembl ID | ENSG00000113263 |
| UniProt ID | Q8TBB6 |
| OMIM ID | 615720 |
| HGNC ID | 29324 |
| Aliases | CAT-4, MGC138499 |
Description
SLC7A14 encodes a member of the solute carrier family 7, a lysosomal cationic amino acid transporter. The protein mediates the efflux of basic amino acids (arginine, lysine, ornithine) from lysosomes. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa (RP), a progressive retinal degeneration disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa, autosomal recessive | Loss-of-function mutations impair lysosomal amino acid export, leading to photoreceptor cell death | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 5.2 | Medium |
| Brain | 3.8 | Low |
| Testis | 2.1 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 4.0 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 2.5 | Low expression |
| HEK293 (embryonic kidney) | 1.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.940C>T (p.Arg314*) | Nonsense | Rare | Loss of function |
| c.1285G>A (p.Gly429Arg) | Missense | Rare | Loss of function |
| c.1666C>T (p.Arg556Trp) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, impairing lysosomal amino acid transport and leading to retinal degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity (GO:0015171) | • lysosome (GO:0005764) |
| • amino acid transport (GO:0006865) | • integral component of membrane (GO:0016021) |
Pathways
• Lysosomal amino acid transport
Protein Summary
SLC7A14 is a 515-amino acid lysosomal membrane protein with 12 transmembrane domains. It functions as a cationic amino acid transporter, exporting arginine, lysine, and ornithine from lysosomes. Defects in this transport lead to lysosomal dysfunction and photoreceptor cell death in retinitis pigmentosa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC7A14 Knockout HEK293 Cell Line | EDJ-KQ12230 | Human | 57709 | Details Get a Quote |
| SLC7A14 Knockout HeLa Cell Line | EDJ-KQ18194 | Human | 57709 | Details Get a Quote |
| SLC7A14 Knockout A-549 Cell Line | EDJ-KQ65416 | Human | 57709 | Details Get a Quote |
| SLC7A14 Knockout HCT 116 Cell Line | EDJ-KQ73852 | Human | 57709 | Details Get a Quote |
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