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    ctns-1 Cystinosin homolog [ Caenorhabditis elegans ]

    Gene ID: 174308, updated on 23-Nov-2023

    Summary

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    Gene symbol
    ctns-1
    Gene description
    Cystinosin homolog
    Primary source
    WormBase:WBGene00008052
    Locus tag
    CELE_C41C4.7
    See related
    AllianceGenome:WB:WBGene00008052
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to enable L-cystine transmembrane transporter activity. Involved in L-cystine transport; lysosome organization; and phagocytosis. Located in lysosomal membrane. 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]
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    Genomic context

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    Location:
    chromosome: II
    Exon count:
    7
    Sequence:
    Chromosome: II; NC_003280.10 (8134756..8136918, complement)

    Chromosome II - NC_003280.10Genomic Context describing neighboring genes Neighboring gene Ubiquitin-like protease 4 Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene Transitional endoplasmic reticulum ATPase homolog 2 Neighboring gene Integrator complex subunit 11 Neighboring gene Large ribosomal subunit protein uL16

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003280.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Regulators of Lysosome Function and Dynamics in Caenorhabditis elegans. Gee K, et al. G3 (Bethesda), 2017 Mar 10. PMID 28122949, Free PMC Article
    2. Sequential action of Caenorhabditis elegans Rab GTPases regulates phagolysosome formation during apoptotic cell degradation. Guo P, et al. Proc Natl Acad Sci U S A, 2010 Oct 19. PMID 20921409, Free PMC Article
    3. Subcellular Nanorheology Reveals Lysosomal Viscosity as a Reporter for Lysosomal Storage Diseases. Devany J, et al. Nano Lett, 2018 Feb 14. PMID 29313356
    4. Phagocytic receptor CED-1 initiates a signaling pathway for degrading engulfed apoptotic cells. Yu X, et al. PLoS Biol, 2008 Mar 18. PMID 18351800, Free PMC Article
    5. LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis. Liu B, et al. Science, 2012 Jul 20. PMID 22822152, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables L-amino acid efflux transmembrane transporter activity IC
    Inferred by Curator
    more info
    		 PubMed 
    enables L-cystine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-alpha-amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-cystine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-cystine transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phagocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in phagocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Cystinosin homolog
    NP_495704.1
    • Confirmed by transcript evidence
    NP_872022.1
    • Confirmed by transcript evidence

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003280.10 Reference assembly

      Range
      8134756..8136918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_182222.6 → NP_872022.1  Cystinosin homolog [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_872022.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q09500
      Conserved Domains (2) summary
      TIGR00951
      Location:127 → 359
      2A43; Lysosomal Cystine Transporter
      pfam04193
      Location:129 → 185
      PQ-loop; PQ loop repeat

    2. NM_063303.7 → NP_495704.1  Cystinosin homolog [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_495704.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q09500, Q8I4M4
      Conserved Domains (2) summary
      TIGR00951
      Location:127 → 359
      2A43; Lysosomal Cystine Transporter
      pfam04193
      Location:129 → 185
      PQ-loop; PQ loop repeat
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q09500.2

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