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

Gene ID: 83429, updated on 8-Feb-2024

Summary

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
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Genomic context

See Ctns in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

General gene information

Markers

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
 
acts_upstream_of_or_within L-alpha-amino acid transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001357891.1NP_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:125357
    2A43; Lysosomal Cystine Transporter
  2. NM_001357892.1NP_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:125357
    2A43; Lysosomal Cystine Transporter
  3. NM_031251.4NP_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:125357
    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_006534535.5XP_006534598.1  cystinosin isoform X3

    See identical proteins and their annotated locations for XP_006534598.1

    Conserved Domains (1) summary
    TIGR00951
    Location:17249
    2A43; Lysosomal Cystine Transporter
  2. XM_006534536.3XP_006534599.1  cystinosin isoform X3

    See identical proteins and their annotated locations for XP_006534599.1

    Conserved Domains (1) summary
    TIGR00951
    Location:17249
    2A43; Lysosomal Cystine Transporter
  3. XM_030246439.2XP_030102299.1  cystinosin isoform X2

    UniProtKB/TrEMBL
    Q3TC99
    Conserved Domains (1) summary
    TIGR00951
    Location:134366
    2A43; Lysosomal Cystine Transporter
  4. XM_030246441.2XP_030102301.1  cystinosin isoform X3

    Conserved Domains (1) summary
    TIGR00951
    Location:17249
    2A43; Lysosomal Cystine Transporter
  5. XM_030246440.2XP_030102300.1  cystinosin isoform X2

    UniProtKB/TrEMBL
    Q3TC99
    Conserved Domains (1) summary
    TIGR00951
    Location:134366
    2A43; Lysosomal Cystine Transporter
  6. XM_011249323.1XP_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:134366
    2A43; Lysosomal Cystine Transporter
  7. XM_011249325.3XP_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:134366
    2A43; Lysosomal Cystine Transporter