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FLASH GENE
Symbol CTNS contributors: mct - updated : 17-11-2012
HGNC name cystinosin, lysosomal cystine transporter
HGNC id 2518
Corresponding disease
CLOJ cystinosis, late-onset juvenile or adolescent nephropathic type
CONP cystinosis, adult nonnephropathic
CTNS cystinosis, infantile, nephropathic
Location 17p13.3      Physical location : 3.539.761 - 3.566.396
Synonym name
  • cystinosin
  • Synonym symbol(s) CTNS-LSB, PQLC4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 26.64 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    Binding site
    text structure SP1 binding site arranged in tandem with CARKL
    MAPPING cloned Y linked N status confirmed
    Physical map
    OR1D5 17p13.3 olfactory receptor, family 1, subfamily D, member 5 OR1D2 17p13-p12 olfactory receptor, family 1, subfamily D, member 2 OR1E3P 17p13.3 olfactory receptor, family 1, subfamily E, member 3 pseudogene OR1G1 17p13.3 olfactory receptor, family 1, subfamily G, member 1 OR1P1P 17p13.3 olfactory receptor, family 1, subfamily P, member 1 pseudogene OR1A2 17p13.3 olfactory receptor, family 1, subfamily A, member 2 OR1A1 17p13.3 olfactory receptor, family 1, subfamily A, member 1 OR1D3P 17p13.3 olfactory receptor, family 1, subfamily D, member 3 pseudogene OR3A2 17p13.3 olfactory receptor, family 3, subfamily A, member 2 OR3A1 17p13.3 olfactory receptor, family 3, subfamily A, member 1 LOC390756 17 similar to Olfactory receptor 3A4 (Olfactory receptor 17-24) (OR17-24) LOC390757 17 similar to olfactory receptor MOR157-1 OR1E1 17p13.3 olfactory receptor, family 1, subfamily E, member 1 OR3A3 17p13.3 olfactory receptor, family 3, subfamily A, member 3 OR1E2 17p13.3 olfactory receptor, family 1, subfamily E, member 2 NYD-SP20 17p13.3 testes development-related NYD-SP20 ASPA 17p13.3 aspartoacylase (aminoacylase 2, Canavan disease) TRPV3 17p13.3 transient receptor potential cation channel, subfamily V, member 3 TRPV1 17p13.3 transient receptor potential cation channel, subfamily V, member 1 CARKL 17p13 carbohydrate kinase-like CTNS 17p13.3 cystinosis, nephropathic TIP-1 17p13 Tax interaction protein 1 MGC2963 17p13.3 hypothetical protein MGC2963 P2RX5 17p13 purinergic receptor P2X, ligand-gated ion channel, 5 ITGAE 17p13 integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) GSG2 17p13 integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) HSA277841 17p13.3 ELG protein CAMKK1 17p13.3 calcium/calmodulin-dependent protein kinase kinase 1, alpha P2RX1 17p13.3 purinergic receptor P2X, ligand-gated ion channel, 1 ATP2A3 17p13.3 ATPase, Ca++ transporting, ubiquitous KIAA0399 17p13.3 KIAA0399 protein MGC32124 17p13.3 hypothetical protein MGC32124 ANKFY1 17p13.3 ankyrin repeat and FYVE domain containing 1 UBE2G1 1q42 ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 4042 44 400 - Gao
    12 splicing 4431 41 367 - Gao
    11 - - - - . expressed in the plasma membrane, in lysosomes, and in other cytosolic structures, in the endoplasmic reticulum and in the Golgi apparatus . in renal tubular structures 2008 18337546
  • alternative splicing of exon 12 that removes the GYDQL motif
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveliver   moderately
    Endocrineneuroendocrinepituitary  highly
    Nervousnervecranial nerve  highly
    Reproductivefemale systemuteruscervix highly
    Skin/Tegumentskin appendageshair    Homo sapiens
    Urinarykidneytubuleconvoluted tubule  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, brain, kidney, liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an intraluminal N terminal uncleavable peptide signal
  • seven transmembrane segments
  • a strong positive charge near the C terminus
  • two signals targeting the protein to the lysosomal compartment, one of which is located at the C-terminal tail (GYDQL)
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to rattus Ctns (83.3pc)
    ortholog to murine Ctns (83.9pc)
    ortholog to yeast Ers1
    Homologene
    FAMILY cystinosin family
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • involved in cystine transport across the lysosomal membrane
  • actively regulated at the transcriptional and posttranscriptional level, suggesting that CTNS plays a pivotal role in regulating cell thiol concentrations
  • cystine/H(+) symporter that exports cystine out of the lysosomes
  • role of CTNS in melanogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text transport cystine out of lysosomes
    PATHWAY
    metabolism aminoacid
    signaling
  • HT driven transporter responsible for cystine export from lysosomes
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CTNS , CLOJ , CONP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    led to a 75p100 reduction of melanin synthesis that was caused by a degradation of tyrosinase by lysosomal proteases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cystinosin-deficient mice showed a 4-fold increase in hair pheomelanin content
  • measurement of CVI (crystal volume index) in the Ctns(-/-) mouse may be used as a model to develop novel therapeutic strategies for treating corneal cystinosis