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Ctns cystinosis, nephropathic [ Mus musculus (house mouse) ]

Gene ID: 83429, updated on 11-Apr-2024

Summary

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Official Symbol
Ctnsprovided by MGI
Official Full Name
cystinosis, nephropathicprovided by MGI
Primary source
MGI:MGI:1932872
See related
Ensembl:ENSMUSG00000005949 AllianceGenome:MGI:1932872
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
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]
Expression
Ubiquitous expression in kidney adult (RPKM 8.3), mammary gland adult (RPKM 7.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11 B4; 11 45.25 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (73073959..73089869, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (73183133..73199115, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1141 Neighboring gene Tax1 (human T cell leukemia virus type I) binding protein 3 Neighboring gene ER membrane protein complex subunit 6 Neighboring gene STARR-positive B cell enhancer ABC_E2999 Neighboring gene sedoheptulokinase Neighboring gene 60S ribosomal protein L35a pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Intrinsic Bone Defects in Cystinotic Mice. Battafarano G, et al. Am J Pathol, 2019 May. PMID 30794806
  2. Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. Gaide Chevronnay HP, et al. Endocrinology, 2016 Apr. PMID 26812160, Free PMC Article
  3. Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling. Andrzejewska Z, et al. J Am Soc Nephrol, 2016 Jun. PMID 26449607, Free PMC Article
  4. A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing. Gaide Chevronnay HP, et al. Endocrinology, 2015 Jun. PMID 25811319, Free PMC Article
  5. The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis. Galarreta CI, et al. Am J Physiol Renal Physiol, 2015 May 15. PMID 25694483

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
    Title: Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis.
  2. Loss of CTNS expression is associated with bone loss.
    Title: Intrinsic Bone Defects in Cystinotic Mice.
  3. LAMP2A trafficking is regulated by cystinosin, Rab11, and RILP and that CMA up-regulation is a potential clinically relevant mechanism to increase cell survival in cystinosis.
    Title: Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A.
  4. Data indicate that hematopoietic stem cell (HSC) transplantation in cystinosin knockout (Ctns-/-) thyroid drastically decreased cystine accumulation and normalized the thyroid-stimulating hormone level.
    Title: Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.
  5. Cells and tissues lacking CTNS expression are characterized by increased autophagosome numbers, but functional macroautophagic flux.
    Title: Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis.
  6. The onset of Fanconi syndrome in knockout mice is between 3 and 6 months of age with structural and functional changes in proximal tubular cells (PTCs), with focus on endocytosis of ultrafiltrated disulfide-rich proteins as a key source of cystine.
    Title: Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys.
  7. The Ctns(-/-) mouse model generated on C57BL/6 background is not suitable for clarifying the pathogenesis of male infertility in cystinosis.
    Title: Studying nonobstructive azoospermia in cystinosis: histologic examination of testes and epididymis and sperm analysis in a Ctns⁻/⁻ mouse model.
  8. Deletion of cystinosis gene (Ctns) causes corneal cystine crystals formation, neovascularization and scarring in the cornea of ctns transgenic mice mimicking cystinosis in humans.
    Title: Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse.
  9. the cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase
    Title: A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis?
  10. Data provide the proof-of-concept that gene transfer is feasible for correcting defective lysosomal transport, but suggest that, in the case of cystinosis, it could be preventive but not curative in some tissues.
    Title: Gene transfer may be preventive but not curative for a lysosomal transport disorder.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables L-cystine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-cystine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables L-cystine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables L-cystine transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
  
enables solute:proton symporter activity ISO
Inferred from Sequence Orthology
more info
  
enables symporter activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in ATP metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in L-cystine transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within L-cystine transport IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within L-cystine transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within L-cystine transport ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in L-cystine transport ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within adult walking behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in brain development ISO
Inferred from Sequence Orthology
more info
  
involved_in brush border assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in cognition ISO
Inferred from Sequence Orthology
more info
  
involved_in glutathione metabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within grooming behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lens development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within long-term memory IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within melanin biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of hydrogen peroxide biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of reactive oxygen species biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of mitochondrial membrane potential ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of thyroid hormone generation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in proximal tubule morphogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of TORC1 signaling ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of melanin biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in renal albumin absorption ISO
Inferred from Sequence Orthology
more info
  
involved_in renal glucose absorption ISO
Inferred from Sequence Orthology
more info
  
involved_in renal phosphate ion absorption ISO
Inferred from Sequence Orthology
more info
  
involved_in renal water absorption ISO
Inferred from Sequence Orthology
more info
  
involved_in thyroid gland development ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within visual learning IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in late endosome ISO
Inferred from Sequence Orthology
more info
  
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in melanosome ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 PubMed 

General protein information

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Preferred Names
cystinosin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001357891.1 → NP_001344820.1  cystinosin precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK054467, AK137143, AW049661
    Consensus CDS
    CCDS25001.1
    UniProtKB/Swiss-Prot
    P57757
    UniProtKB/TrEMBL
    Q3TC99, Q542U5
    Related
    ENSMUSP00000104116.2, ENSMUST00000108476.8
    Conserved Domains (1) summary
    TIGR00951
    Location:125 → 357
    2A43; Lysosomal Cystine Transporter

  2. NM_001357892.1 → NP_001344821.1  cystinosin precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK054467, AK137143, AW049661
    Consensus CDS
    CCDS25001.1
    UniProtKB/Swiss-Prot
    P57757
    UniProtKB/TrEMBL
    Q3TC99, Q542U5
    Conserved Domains (1) summary
    TIGR00951
    Location:125 → 357
    2A43; Lysosomal Cystine Transporter

  3. NM_031251.4 → NP_112541.1  cystinosin precursor

    See identical proteins and their annotated locations for NP_112541.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL670399
    Consensus CDS
    CCDS25001.1
    UniProtKB/Swiss-Prot
    P57757
    UniProtKB/TrEMBL
    Q3TC99, Q542U5
    Related
    ENSMUSP00000006103.3, ENSMUST00000006103.9
    Conserved Domains (1) summary
    TIGR00951
    Location:125 → 357
    2A43; Lysosomal Cystine Transporter

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    73073959..73089869 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006534535.5 → XP_006534598.1  cystinosin isoform X3

    See identical proteins and their annotated locations for XP_006534598.1

    Conserved Domains (1) summary
    TIGR00951
    Location:17 → 249
    2A43; Lysosomal Cystine Transporter

  2. XM_006534536.3 → XP_006534599.1  cystinosin isoform X3

    See identical proteins and their annotated locations for XP_006534599.1

    Conserved Domains (1) summary
    TIGR00951
    Location:17 → 249
    2A43; Lysosomal Cystine Transporter

  3. XM_030246439.2 → XP_030102299.1  cystinosin isoform X2

    UniProtKB/TrEMBL
    Q3TC99
    Conserved Domains (1) summary
    TIGR00951
    Location:134 → 366
    2A43; Lysosomal Cystine Transporter

  4. XM_030246441.2 → XP_030102301.1  cystinosin isoform X3

    Conserved Domains (1) summary
    TIGR00951
    Location:17 → 249
    2A43; Lysosomal Cystine Transporter

  5. XM_030246440.2 → XP_030102300.1  cystinosin isoform X2

    UniProtKB/TrEMBL
    Q3TC99
    Conserved Domains (1) summary
    TIGR00951
    Location:134 → 366
    2A43; Lysosomal Cystine Transporter

  6. XM_011249323.1 → XP_011247625.1  cystinosin isoform X1

    See identical proteins and their annotated locations for XP_011247625.1

    UniProtKB/TrEMBL
    Q3TC99
    Conserved Domains (1) summary
    TIGR00951
    Location:134 → 366
    2A43; Lysosomal Cystine Transporter

  7. XM_011249325.3 → XP_011247627.1  cystinosin isoform X4

    See identical proteins and their annotated locations for XP_011247627.1

    UniProtKB/TrEMBL
    Q3TC99
    Conserved Domains (1) summary
    TIGR00951
    Location:134 → 366
    2A43; Lysosomal Cystine Transporter
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P57757.1 GenPept UniProtKB/Swiss-Prot:P57757

Gene LinkOut

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