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    mbl-1 C3H1-type domain-containing protein;Muscleblind-like protein [ Caenorhabditis elegans ]

    Gene ID: 186912, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mbl-1
    Official Full Name
    C3H1-type domain-containing protein;Muscleblind-like protein
    Primary source
    WormBase:WBGene00019347
    Locus tag
    CELE_K02H8.1
    See related
    AllianceGenome:WB:WBGene00019347
    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 enable RNA binding activity. Predicted to be involved in regulation of RNA splicing. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleoplasm. Is expressed in several structures, including tail and ventral nerve cord. Used to study myotonic disease. Orthologous to several human genes including MBNL3 (muscleblind like splicing regulator 3). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See mbl-1 in Genome Data Viewer
    Location:
    chromosome: X
    Exon count:
    11
    Sequence:
    Chromosome: X; NC_003284.9 (16978608..17010300)

    Chromosome X - NC_003284.9Genomic Context describing neighboring genes Neighboring gene BAT2 N-terminal domain-containing protein Neighboring gene Uncharacterized protein Neighboring gene ShKT domain-containing protein Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene ncRNA Neighboring gene USP domain-containing protein Neighboring gene ncRNA

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003284.9

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. MBL-1/Muscleblind regulates neuronal differentiation and controls the splicing of a terminal selector in Caenorhabditis elegans. Lee HMT, et al. PLoS Genet, 2024 Oct. PMID 39423233, Free PMC Article
    2. Identification of Caenorhabditis elegans K02H8.1 (CeMBL), a functional ortholog of mammalian MBNL proteins. Sasagawa N, et al. J Neurosci Res, 2009 Apr. PMID 19021294
    3. Growth-dependent effect of muscleblind knockdown on Caenorhabditis elegans. Wang LC, et al. Biochem Biophys Res Commun, 2008 Feb 15. PMID 18082131
    4. Caenorhabditis elegans Muscleblind homolog mbl-1 functions in neurons to regulate synapse formation. Spilker KA, et al. Neural Dev, 2012 Feb 7. PMID 22314215, Free PMC Article
    5. MBL-1 and EEL-1 affect the splicing and protein levels of MEC-3 to control dendrite complexity. Xie J, et al. PLoS Genet, 2023 Sep. PMID 37729192, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MBL-1/Muscleblind regulates neuronal differentiation and controls the splicing of a terminal selector in Caenorhabditis elegans.
      Title: MBL-1/Muscleblind regulates neuronal differentiation and controls the splicing of a terminal selector in Caenorhabditis elegans.
    2. The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism.
      Title: The Muscleblind-like protein MBL-1 regulates microRNA expression in Caenorhabditis elegans through an evolutionarily conserved autoregulatory mechanism.
    3. MBL-1 and EEL-1 affect the splicing and protein levels of MEC-3 to control dendrite complexity.
      Title: MBL-1 and EEL-1 affect the splicing and protein levels of MEC-3 to control dendrite complexity.
    4. Loss of muscleblind splicing factor shortens Caenorhabditis elegans lifespan by reducing the activity of p38 MAPK/PMK-1 and transcription factors ATF-7 and Nrf/SKN-1.
      Title: Loss of muscleblind splicing factor shortens Caenorhabditis elegans lifespan by reducing the activity of p38 MAPK/PMK-1 and transcription factors ATF-7 and Nrf/SKN-1.
    5. Interaction between mbl-1 and exc-7, double mutants displayed a severely shortened lifespan.
      Title: CRISPR-mediated genetic interaction profiling identifies RNA binding proteins controlling metazoan fitness.
    6. in addition to its functions in muscle, the Muscleblind splice regulators also function in neurons to regulate synapse formation.
      Title: Caenorhabditis elegans Muscleblind homolog mbl-1 functions in neurons to regulate synapse formation.
    7. 6 isoforms of K02H8.1 were cloned; K02H8.1 exhibited strong binding affinity for CUG & CCUG repeats; binding affinity was similar to MBNLs; expression of GFP driven by K02H8.1 promoter was absent in muscle but was detected in neurons around the pharynx
      Title: Identification of Caenorhabditis elegans K02H8.1 (CeMBL), a functional ortholog of mammalian MBNL proteins.
    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 RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    C3H1-type domain-containing protein;Muscleblind-like protein
    NP_001129931.1
    • Confirmed by transcript evidence
    NP_001257281.1
    • Confirmed by transcript evidence
    NP_001360647.1
    • Partially confirmed by transcript evidence
    NP_001360648.1
    • Confirmed by transcript evidence
    NP_001360649.1
    • Partially confirmed by transcript evidence
    NP_001360650.1
    • Confirmed by transcript evidence
    NP_001379924.1
    • 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_003284.9 Reference assembly

      Range
      16978608..17010300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001373620.2 → NP_001360647.1  C3H1-type domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A4V0IN02, B0EYF6
      Conserved Domains (1) summary
      smart00356
      Location:108 → 133
      ZnF_C3H1; zinc finger

    2. NM_001373621.2 → NP_001360648.1  C3H1-type domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A4V6M3B8
      Conserved Domains (1) summary
      smart00356
      Location:108 → 133
      ZnF_C3H1; zinc finger

    3. NM_001373622.1 → NP_001360649.1  C3H1-type domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A4V0IK39, B0EYF6
      Conserved Domains (1) summary
      smart00356
      Location:93 → 118
      ZnF_C3H1; zinc finger

    4. NM_001270352.4 → NP_001257281.1  Muscleblind-like protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001257281.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      B3WFU7, B3WFU8, Q94250
      UniProtKB/TrEMBL
      B0EYF6
      Conserved Domains (1) summary
      smart00356
      Location:40 → 65
      ZnF_C3H1; zinc finger

    5. NM_001373623.3 → NP_001360650.1  C3H1-type domain-containing protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A4V0IIT3, B0EYF7
      Conserved Domains (1) summary
      smart00356
      Location:93 → 118
      ZnF_C3H1; zinc finger

    6. NM_001392916.1 → NP_001379924.1  Muscleblind-like protein [Caenorhabditis elegans]

      Status: REVIEWED

      UniProtKB/TrEMBL
      B0EYF7
      Conserved Domains (1) summary
      smart00356
      Location:40 → 65
      ZnF_C3H1; zinc finger

    7. NM_001136459.4 → NP_001129931.1  Muscleblind-like protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_001129931.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      B0EYF6
      Conserved Domains (1) summary
      smart00356
      Location:40 → 65
      ZnF_C3H1; zinc finger
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q94250.2

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