U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    nphp-4 uncharacterized protein [ Caenorhabditis elegans ]

    Gene ID: 179620, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    nphp-4
    Official Full Name
    uncharacterized protein
    Primary source
    WormBase:WBGene00011261
    Locus tag
    CELE_R13H4.1
    See related
    AllianceGenome:WB:WBGene00011261
    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
    Involved in several processes, including determination of adult lifespan; male mating behavior; and plasma membrane bounded cell projection organization. Located in ciliary basal body; ciliary transition zone; and non-motile cilium. Is expressed in cloacal ganglion; neurons; and tail ganglion. Used to study Meckel syndrome; ciliopathy; and nephronophthisis. Human ortholog(s) of this gene implicated in Joubert syndrome 4; Senior-Loken syndrome; congenital heart disease; nephronophthisis; and nephronophthisis 4. Orthologous to human NPHP4 (nephrocystin 4). [provided by Alliance of Genome Resources, Dec 2024]
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See nphp-4 in Genome Data Viewer
    Location:
    chromosome: V
    Exon count:
    17
    Sequence:
    Chromosome: V; NC_003283.11 (11831197..11843728, complement)

    Chromosome V - NC_003283.11Genomic Context describing neighboring genes Neighboring gene ABC1 atypical kinase-like domain-containing protein Neighboring gene ncRNA Neighboring gene Nematode cuticle collagen N-terminal domain-containing protein Neighboring gene intestinal acid PHOsphatase Neighboring gene Uncharacterized protein Neighboring gene Intrinsically Disordered Protein, class B Neighboring gene ncRNA Neighboring gene Alpha-catenin-like protein hmp-1;Vinculin Neighboring gene ncRNA

    Genomic regions, transcripts, and products

    Go to the top of the page Help
    Genomic Sequence:
    NC_003283.11

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans. Masyukova SV, et al. Hum Mol Genet, 2011 Aug 1. PMID 21546380, Free PMC Article
    2. Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human RPGRIP1L, is required for ciliogenesis and chemosensation. Liu L, et al. Biochem Biophys Res Commun, 2011 Jul 8. PMID 21689635
    3. Ciliary intrinsic mechanisms regulate dynamic ciliary extracellular vesicle release from sensory neurons. Wang J, et al. Curr Biol, 2024 Jun 17. PMID 38838665,
    4. Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans. Lange KI, et al. Hum Mol Genet, 2022 May 19. PMID 34964473, Free PMC Article
    5. The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception. Winkelbauer ME, et al. J Cell Sci, 2005 Dec 1. PMID 16291722

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes.
      Title: Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes.
    2. OSM-3 mutations cause NPHP-4 dependent and independent phenotypes.
      Title: A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4.
    3. NPHP-1 and NPHP-4 proteins play important and redundant roles in facilitating ciliary sensory signal transduction.
      Title: Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors.
    4. data indicate a genetic interaction between mutations in mks-3 and nphp-4 causes cilia and sensilla morphology defects
      Title: Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.
    5. The C. elegans B9 proteins form a complex that localizes to the base of cilia. Mutations in the B9 genes do not overtly affect cilia formation unless they are in combination with a mutation in nph-1 or nph-4.
      Title: Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.
    6. We propose that NPHP-1 and NPHP-4 act globally at the TZ to regulate ciliary access of the IFT machinery, axonemal structural components, and signaling molecules, and that perturbing this balance results in cell type-specific phenotypes.
      Title: The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure.
    7. The NPHP homologs may be necessary for initial assembly of the cilium, whereas the polycystic kidney disease homologs may function as sensory transducers.
      Title: Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans.
    8. NPHP-4 protein plays important and redundant role in facilitating ciliary sensory signal transduction.
      Title: Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors.
    Submit: New GeneRIF Correction

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by WormBase

    Process Evidence Code Pubs
    involved_in dendrite development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in determination of adult lifespan IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in larval foraging behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuronal signal transduction IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to ciliary transition zone IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in response to hermaphrodite contact IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in turning behavior involved in mating IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary base IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in non-motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    uncharacterized protein
    NP_505982.2
    • Product from WormBase gene class nphp;
      Confirmed by transcript evidence; NePHronoPhthisis (human kidney disease) homolog

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_003283.11 Reference assembly

      Range
      11831197..11843728 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_073581.5 → NP_505982.2  uncharacterized protein CELE_R13H4.1 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_505982.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      G5ECP0
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.