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    mks-5 Protein fantom [ Caenorhabditis elegans ]

    Gene ID: 174654, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mks-5
    Official Full Name
    Protein fantom
    Primary source
    WormBase:WBGene00007490
    Locus tag
    CELE_C09G5.8
    See related
    AllianceGenome:WB:WBGene00007490
    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 non-motile cilium assembly; protein localization to cilium; and protein to membrane docking. Located in ciliary basal body and ciliary transition zone. Is expressed in chemosensory neurons and ciliated neurons. Used to study ciliopathy. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 7; Leber hereditary optic neuropathy; Meckel syndrome 5; retinal disease (multiple); and vascular dementia. Orthologous to several human genes including RPGRIP1L (RPGRIP1 like). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See mks-5 in Genome Data Viewer
    Location:
    chromosome: II
    Exon count:
    17
    Sequence:
    Chromosome: II; NC_003280.10 (10720231..10729329)

    Chromosome II - NC_003280.10Genomic Context describing neighboring genes Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene DUF19 domain-containing protein Neighboring gene ncRNA Neighboring gene C2H2-type domain-containing protein Neighboring gene GLOBIN domain-containing protein Neighboring gene PDZ domain-containing protein C52A11.3

    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. Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance. Jensen VL, et al. EMBO J, 2015 Oct 14. PMID 26392567, 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. 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
    4. Ift88, but not Kif3a, is required for establishment of the periciliary membrane compartment. Kotsis F, et al. Biochem Biophys Res Commun, 2021 Dec 20. PMID 34753064
    5. The ciliary transition zone functions in cell adhesion but is dispensable for axoneme assembly in C. elegans. Schouteden C, et al. J Cell Biol, 2015 Jul 6. PMID 26124290, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. findings expand the repertoire of MKS module-associated proteins and suggest an MKS-5 and CEP-290-dependent assembly pathway for building a functional ciliary transition zone
      Title: MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
    2. MKS-5 acts to exclude membrane-associated signalling proteins from the transition zone and limits PIP2 ciliary abundance, creating an optimal, discrete ciliary signalling compartment.
      Title: Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance.
    3. these data suggest that NPHP-8/RPGRIP1L plays an important role in cilia formation and cilia-mediated chemosensation in a cell type-specific manner.
      Title: Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human RPGRIP1L, is required for ciliogenesis and chemosensation.
    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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 to ciliary transition zone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein to membrane docking IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in receptor localization to non-motile cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Protein fantom
    NP_001254260.1
    • Confirmed by transcript evidence
    NP_001254261.1
    • 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
      10720231..10729329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001267331.3 → NP_001254260.1  Protein fantom [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001254260.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      B6VQ42, B6VQ43, Q09459, Q09513
      Conserved Domains (1) summary
      pfam11618
      Location:591 → 688
      C2-C2_1; First C2 domain of RPGR-interacting protein 1

    2. NM_001267332.3 → NP_001254261.1  Protein fantom [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001254261.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q09459
      Conserved Domains (2) summary
      pfam11618
      Location:361 → 458
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam15898
      Location:236 → 308
      PRKG1_interact; cGMP-dependent protein kinase interacting domain

    RNA

    1. NR_051620.1 RNA Sequence

      Status: REVIEWED

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q09459.4

    Gene LinkOut

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