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    cup-5 Polycystin cation channel PKD1/PKD2 domain-containing protein [ Caenorhabditis elegans ]

    Gene ID: 176074, updated on 9-Dec-2024

    Summary

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    Official Symbol
    cup-5
    Official Full Name
    Polycystin cation channel PKD1/PKD2 domain-containing protein
    Primary source
    WormBase:WBGene00000846
    Locus tag
    CELE_R13A5.1
    See related
    AllianceGenome:WB:WBGene00000846
    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 NAADP-sensitive calcium-release channel activity and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including cuticle development involved in collagen and cuticulin-based cuticle molting cycle; determination of adult lifespan; and lysosomal lumen acidification. Located in endolysosome and lysosomal membrane. Is expressed in several structures, including ASE; coelomocyte; intestine; non-striated muscle; and pharynx. Used to study mucolipidosis type IV. Human ortholog(s) of this gene implicated in Lisch epithelial corneal dystrophy; glycoproteinosis; and mucolipidosis type IV. Orthologous to human MCOLN1 (mucolipin TRP cation channel 1); MCOLN2 (mucolipin TRP cation channel 2); and MCOLN3 (mucolipin TRP cation channel 3). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See cup-5 in Genome Data Viewer
    Location:
    chromosome: III
    Exon count:
    12
    Sequence:
    Chromosome: III; NC_003281.10 (7584181..7591581)

    Chromosome III - NC_003281.10Genomic Context describing neighboring genes Neighboring gene Major facilitator superfamily associated domain-containing protein Neighboring gene CMP/dCMP-type deaminase domain-containing protein Neighboring gene Serpentine receptor class gamma Neighboring gene Serine/threonine-protein phosphatase Neighboring gene DUF3955 domain-containing protein Neighboring gene pseudo

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003281.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Regulated lysosomal trafficking as a mechanism for regulating GABAA receptor abundance at synapses in Caenorhabditis elegans. Davis KM, et al. Mol Cell Neurosci, 2010 Aug. PMID 20403442
    2. Mucolipidosis type IV: an update. Wakabayashi K, et al. Mol Genet Metab, 2011 Nov. PMID 21763169, Free PMC Article
    3. The arf-like GTPase Arl8 mediates delivery of endocytosed macromolecules to lysosomes in Caenorhabditis elegans. Nakae I, et al. Mol Biol Cell, 2010 Jul 15. PMID 20484575, Free PMC Article
    4. Roles of CUP-5, the Caenorhabditis elegans orthologue of human TRPML1, in lysosome and gut granule biogenesis. Campbell EM, et al. BMC Cell Biol, 2010 Jun 11. PMID 20540742, Free PMC Article
    5. Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Treusch S, et al. Proc Natl Acad Sci U S A, 2004 Mar 30. PMID 15070744, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in cup-5, encoding the C. elegans Mucolipin 1 homolog, cause defects in the autophagy pathway.
      Title: CUP-5, the C. elegans ortholog of the mammalian lysosomal channel protein MLN1/TRPML1, is required for proteolytic degradation in autolysosomes.
    2. MRP-4 localizes to endocytic compartments and its levels are elevated in the absence of CUP-5.
      Title: Suppression of the cup-5 mucolipidosis type IV-related lysosomal dysfunction by the inactivation of an ABC transporter in C. elegans.
    3. Mutations in cup-5 result in the accumulation of large vacuoles in several cells and in increased cell death
      Title: Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.
    4. lethality in cup-5 mutant worms is due to two defects, starvation of embryonic cells and general developmental defects
      Title: Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables NAADP-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables intracellularly ligand-gated monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables monoatomic cation channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cuticle development involved in collagen and cuticulin-based cuticle molting cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in determination of adult lifespan IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in lipid transport involved in lipid storage IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in lysosomal lumen acidification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in macromolecule catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endolysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome membrane 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 lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Polycystin cation channel PKD1/PKD2 domain-containing protein
    NP_001022721.2
    • Partially confirmed by transcript evidence
    NP_001022722.2
    • Confirmed by transcript evidence
    NP_001254945.1
    • Confirmed by transcript evidence
    NP_001370401.1
    • Confirmed by transcript evidence
    NP_498664.3
    • 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_003281.10 Reference assembly

      Range
      7584181..7591581
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001027550.4 → NP_001022721.2  Polycystin cation channel PKD1/PKD2 domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001022721.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      H2KYK0, Q9BJ56
      Conserved Domains (1) summary
      pfam08016
      Location:400 → 574
      PKD_channel; Polycystin cation channel

    2. NM_001268016.4 → NP_001254945.1  Polycystin cation channel PKD1/PKD2 domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001254945.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q8T666, Q8T878, Q9BJ56
      Conserved Domains (1) summary
      pfam08016
      Location:382 → 556
      PKD_channel; Polycystin cation channel

    3. NM_001027551.5 → NP_001022722.2  Polycystin cation channel PKD1/PKD2 domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001022722.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      H2KYJ9, Q9BJ56
      Conserved Domains (1) summary
      pfam08016
      Location:378 → 552
      PKD_channel; Polycystin cation channel

    4. NM_066263.6 → NP_498664.3  Polycystin cation channel PKD1/PKD2 domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_498664.3

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q8WSP3, Q9BJ56
      Conserved Domains (1) summary
      pfam08016
      Location:378 → 562
      PKD_channel; Polycystin cation channel

    5. NM_001382919.2 → NP_001370401.1  Polycystin cation channel PKD1/PKD2 domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      D7UU24, Q9BJ56
      Conserved Domains (2) summary
      pfam08016
      Location:378 → 552
      PKD_channel; Polycystin cation channel
      cd21050
      Location:128 → 311
      ELD_TRPML; extracytosolic/lumenal domain (ELD) found in transient receptor potential channel mucolipins (TRPMLs)
    Nucleotide Protein
    Heading Accession and Version

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