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

Gene ID: 186912, updated on 5-Nov-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, Nov 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. 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
  2. Growth-dependent effect of muscleblind knockdown on Caenorhabditis elegans. Wang LC, et al. Biochem Biophys Res Commun, 2008 Feb 15. PMID 18082131
  3. 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
  4. 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
  5. 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. Matilainen O, et al. Genetics, 2021 Oct 2. PMID 34849877, 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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