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    mks-1 MecKel-Gruber Syndrome (MKS) homolog [ Caenorhabditis elegans ]

    Gene ID: 187903, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mks-1
    Official Full Name
    MecKel-Gruber Syndrome (MKS) homolog
    Primary source
    WormBase:WBGene00020100
    Locus tag
    CELE_R148.1
    See related
    AllianceGenome:WB:WBGene00020100
    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 be involved in cilium assembly. Predicted to be part of MKS complex. Is expressed in neurons. Used to study Meckel syndrome and ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See mks-1 in Genome Data Viewer
    Location:
    chromosome: III
    Exon count:
    10
    Sequence:
    Chromosome: III; NC_003281.10 (3186280..3191307)

    Chromosome III - NC_003281.10Genomic Context describing neighboring genes Neighboring gene DUF2846 domain-containing protein;DUF4476 domain-containing protein Neighboring gene Late endosomal/lysosomal adaptor and MAPK and MTOR activator 5 Neighboring gene tRNA Neighboring gene tRNA Neighboring gene tRNA Neighboring gene Uncharacterized protein Neighboring gene tRNA-Tyr

    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. Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. Williams CL, et al. J Am Soc Nephrol, 2010 May. PMID 20150540, Free PMC Article
    2. Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins. Warburton-Pitt SR, et al. J Cell Sci, 2012 Jun 1. PMID 22393243, Free PMC Article
    3. A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4. Masyukova SV, et al. PLoS Genet, 2016 Feb. PMID 26863025, Free PMC Article
    4. Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. Williams CL, et al. Mol Biol Cell, 2008 May. PMID 18337471, Free PMC Article
    5. Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans. Lange KI, et al. Dis Model Mech, 2021 Jan 1. PMID 33234550, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of MKS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    MecKel-Gruber Syndrome (MKS) homolog
    NP_001366806.1
    • Product from WormBase gene class mks;
      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
      3186280..3191307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001381800.1 → NP_001366806.1  MecKel-Gruber Syndrome (MKS) homolog [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A679L8Q5
      Conserved Domains (1) summary
      pfam07162
      Location:238 → 397
      B9-C2; Ciliary basal body-associated, B9 protein
    Nucleotide Protein
    Heading Accession and Version

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