SLC7A14

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]

Description

Solute carrier family 7 member 14

Tissue specificity

Group enriched (brain, pituitary gland, retina)

Subcell location

Nucleoplasm, Vesicles, Plasma membrane, Cytosol

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters

Chromosome

3 (170459548 - 170586075)

Ensembl ID

ENSG00000013293  (ver. 103.38)

Orthologs

Mouse Slc7a14: ENSMUSG00000069072

UniProt

Q8TBB6

neXtProt

NX_Q8TBB6

Human splice variants
Mouse splice variants

Protein structure