U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

nphp-4 uncharacterized protein [ Caenorhabditis elegans ]

Gene ID: 179620, updated on 2-Nov-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, Nov 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.