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

Gene ID: 176074, updated on 2-Nov-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, Nov 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
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