Slc7a14 Gene Summary [Rat]

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]

Details

Type
Protein Coding
Official Symbol
Slc7a14
Official Name
solute carrier family 7, member 14 [Source:RGD Symbol;Acc:1594375]
Ensembl ID
ENSRNOG00000028097
Bio databases IDs NCBI: 499587 Ensembl: ENSRNOG00000028097
Aliases solute carrier family 7, member 14
Synonyms A930013N06, FLJ37228, KIAA1613, LOC681347, PPP1R142, solute carrier family 7 (cationic amino acid transporter, y+ system), member 14, solute carrier family 7 member 14, solute carrier family 7, member 14
Species
Rat, Rattus norvegicus
OrthologiesHumanMouse

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in rat Slc7a14 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • amino acid permease (GABA permease)
  • amino acid permease (yeast)
  • amino acid permease
  • L-type amino acid transporter
  • gamma-aminobutyrate transporter
  • protein binding
  • cationic amino acid transport permease
  • ion channel
  • amino acid transporter
  • C-terminus of AA_permease

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • retinitis pigmentosa type 68
  • retinal dystrophy
regulated by
  • glomerular cells
regulates
  • GABA

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • intracellular membrane-bounded organelle
  • Plasma Membrane
  • cytosol
  • lysosome membrane
  • nucleoplasm
  • synaptic vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the rat Slc7a14 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • gamma-aminobutyric acid import
  • amino acid transport
  • amino acid transmembrane transport

Cellular Component

Where in the cell the gene product is active
  • intracellular membrane-bounded organelle
  • cytosol
  • lysosomal membrane
  • plasma membrane
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • L-gamma-aminobutyric acid transmembrane transporter activity
  • amino acid transmembrane transporter activity

Gene-Specific Assays for Results You Can Trust

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