CTNS Gene Summary [Human]
This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Details
| Type | Protein Coding |
| Official Symbol | CTNS |
| Official Name | cystinosin, lysosomal cystine transporter [Source:HGNC Symbol;Acc:HGNC:2518] |
| Ensembl ID | ENSG00000040531 |
| Bio databases IDs | |
| Aliases | cystinosin, lysosomal cystine transporter |
| Synonyms | CTNS-LSB, CYSTINOSIN, cystinosin, lysosomal cystine transporter, cystinosis, nephropathic, LOC365969, PQLC4, SLC66A4 |
| Species | Human, Homo sapiens |
| Orthologies |
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 human CTNS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lysosomal import sequence
- Sugar efflux transporter for intercellular exchange
- protein binding
- PQ loop repeat
- Lysosomal Cystine Transporter
- solute:hydrogen symporter
- transporter
- cystine transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infantile nephropathic cystinosis
- cystinosis
- hereditary disorder
- benign adult cystinosis
- atypical nephropathic cystinosis
- juvenile nephropathic cystinosis
- renal glucosuria
- hyperplasia
- nephrosis
- exhaustion
role in cell
- expression in
- apoptosis
- proliferation
- quantity
- accumulation in
- assembly
- fusion
- hypertrophy
- ferroptosis
- pathological dilation in
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
- lysosome
- lysosome membrane
- late endosomes
- melanosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CTNS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- melanin biosynthetic process
- protein transport
- cellular amino acid metabolic process
- visual learning
- renal phosphate ion absorption
- lens development in camera-type eye
- adult walking behavior
- regulation of melanin biosynthetic process
- positive regulation of mitochondrial membrane potential
- ion transport
- grooming behavior
- cognition
- positive regulation of thyroid hormone generation
- negative regulation of hydrogen peroxide biosynthetic process
- transmembrane transport
- brain development
- long-term memory
- renal water absorption
- thyroid gland development
- proximal tubule morphogenesis
- negative regulation of apoptotic process
- glutathione metabolic process
- renal albumin absorption
- ATP metabolic process
- L-cystine transport
- renal glucose absorption
Cellular Component
Where in the cell the gene product is active
- melanosome membrane
- early endosome
- extracellular vesicular exosome
- melanosome
- intracellular membrane-bounded organelle
- late endosome
- plasma membrane
- lysosomal membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- solute:hydrogen symporter activity
- L-cystine transmembrane transporter activity