Ctns - cystinosis, nephropathic Gene

Species: Mus musculus

Gene Type: protein coding
Gene ID: 83429

Summary

Enables L-cystine transmembrane transporter activity. Involved in positive regulation of TORC1 signaling. Acts upstream of or within several processes, including adult walking behavior; grooming behavior; and learning or memory. Located in lysosome. Used to study cystinosis. Human ortholog(s) of this gene implicated in cystinosis. Orthologous to human CTNS (cystinosin, lysosomal cystine transporter). [provided by Alliance of Genome Resources, Apr 2022]

Ctns Products (3)

mRNA Protein Name
NM_001357891.1 NP_001344820.1 cystinosin precursor
NM_001357892.1 NP_001344821.1 cystinosin precursor
NM_031251.4 NP_112541.1 cystinosin precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables L-cystine transmembrane transporter activity IDA
IDA: Inferred from direct assay
12370309 MGI
enables L-cystine transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
12370309 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within L-cystine transport IDA
IDA: Inferred from direct assay
12370309 MGI
acts upstream of or within L-cystine transport IMP
IMP: Inferred from mutant phenotype
12370309 MGI
acts upstream of or within adult walking behavior IMP
IMP: Inferred from mutant phenotype
17977621 MGI
acts upstream of or within grooming behavior IMP
IMP: Inferred from mutant phenotype
17977621 MGI
acts upstream of or within lens development in camera-type eye IMP
IMP: Inferred from mutant phenotype
21897743 MGI
acts upstream of or within long-term memory IMP
IMP: Inferred from mutant phenotype
17977621 MGI
involved in positive regulation of TORC1 signaling IMP
IMP: Inferred from mutant phenotype
26449607 MGI
acts upstream of or within visual learning IMP
IMP: Inferred from mutant phenotype
17977621 MGI
Cellular Component GO Annotation Evidence References Source
located in lysosome IDA
IDA: Inferred from direct assay
12370309 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

cystinosin

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03313 CTNS Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Ctns NCBI NCBI:1497