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    efhc-1 DM10 domain-containing protein [ Caenorhabditis elegans ]

    Gene ID: 190059, updated on 9-Dec-2024

    Summary

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    Official Symbol
    efhc-1
    Official Full Name
    DM10 domain-containing protein
    Primary source
    WormBase:WBGene00013028
    Locus tag
    CELE_Y49A10A.1
    See related
    AllianceGenome:WB:WBGene00013028
    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 alpha-tubulin binding activity. Predicted to be involved in cilium-dependent cell motility; mitotic cytokinesis; and mitotic spindle organization. Predicted to be located in cytoplasm. Predicted to be active in axoneme and mitotic spindle. Is expressed in ciliated neurons and ray. Human ortholog(s) of this gene implicated in juvenile absence epilepsy 1 and juvenile myoclonic epilepsy. Orthologous to several human genes including EFHC1 (EF-hand domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See efhc-1 in Genome Data Viewer
    Location:
    chromosome: X
    Exon count:
    10
    Sequence:
    Chromosome: X; NC_003284.9 (10358383..10360550)

    Chromosome X - NC_003284.9Genomic Context describing neighboring genes Neighboring gene Uncharacterized protein Neighboring gene ncRNA Neighboring gene Uncharacterized protein Neighboring gene UDENN domain-containing protein

    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. EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling. Loucks CM, et al. Elife, 2019 Feb 27. PMID 30810526, Free PMC Article
    2. OrthoList: a compendium of C. elegans genes with human orthologs. Shaye DD, et al. PLoS One, 2011. PMID 21647448, Free PMC Article
    3. OrthoList 2: A New Comparative Genomic Analysis of Human and Caenorhabditis elegans Genes. Kim W, et al. Genetics, 2018 Oct. PMID 30120140, Free PMC Article
    4. Genome sequence of the nematode C. elegans: a platform for investigating biology. C. elegans Sequencing Consortium. Science, 1998 Dec 11. PMID 9851916

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium-dependent cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DM10 domain-containing protein
    NP_509738.2
    • 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_003284.9 Reference assembly

      Range
      10358383..10360550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_077337.5 → NP_509738.2  DM10 domain-containing protein [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_509738.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9XWW8
      Conserved Domains (3) summary
      smart00676
      Location:76 → 181
      DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
      pfam06565
      Location:102 → 134
      DUF1126; Repeat of unknown function (DUF1126)
      cl00261
      Location:309 → 370
      PLPDE_III; Type III Pyridoxal 5-phosphate (PLP)-Dependent Enzymes
    Nucleotide Protein
    Heading Accession and Version

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