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    mks-3 Meckelin [ Caenorhabditis elegans ]

    Gene ID: 185278, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mks-3
    Official Full Name
    Meckelin
    Primary source
    WormBase:WBGene00018042
    Locus tag
    CELE_F35D2.4
    See related
    AllianceGenome:WB:WBGene00018042
    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 non-motile cilium assembly. Located in ciliary transition zone. Is expressed in neurons. Used to study Meckel syndrome. Human ortholog(s) of this gene implicated in several diseases, including Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis (multiple). Orthologous to human TMEM67 (transmembrane protein 67). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See mks-3 in Genome Data Viewer
    Location:
    chromosome: II
    Exon count:
    12
    Sequence:
    Chromosome: II; NC_003280.10 (7580144..7583655, complement)

    Chromosome II - NC_003280.10Genomic Context describing neighboring genes Neighboring gene Conserved secreted protein Neighboring gene Ameloblastin Neighboring gene Cation-independent mannose-6-phosphate receptor Neighboring gene Rho GTPase-activating protein syd-1 Neighboring gene ncRNA Neighboring gene ncRNA

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003280.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. 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
    2. 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
    3. The nphp-2 and arl-13 genetic modules interact to regulate ciliogenesis and ciliary microtubule patterning in C. elegans. Warburton-Pitt SR, et al. PLoS Genet, 2014 Dec. PMID 25501555, Free PMC Article
    4. 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
    5. 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

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in non-motile cilium assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MKS complex IEA
    Inferred from Electronic Annotation
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Meckelin
    NP_495591.2
    • 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_003280.10 Reference assembly

      Range
      7580144..7583655 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_063190.5 → NP_495591.2  Meckelin [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_495591.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q20046
      Conserved Domains (3) summary
      cd00185
      Location:55 → 101
      TNFRSF; CRD2 [structural motif]
      pfam09773
      Location:97 → 897
      Meckelin; Meckelin (Transmembrane protein 67)
      cl22855
      Location:50 → 119
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
    Nucleotide Protein
    Heading Accession and Version

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