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    efhc1 EF-hand domain (C-terminal) containing 1 [ Danio rerio (zebrafish) ]

    Gene ID: 393942, updated on 2-Nov-2024

    Summary

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    Official Symbol
    efhc1provided by ZNC
    Official Full Name
    EF-hand domain (C-terminal) containing 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040426-1300
    See related
    Ensembl:ENSDARG00000009743 AllianceGenome:ZFIN:ZDB-GENE-040426-1300
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:63931
    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 several structures, including Kupffer's vesicle; central nervous system; forerunner cell group; neural tube; and pronephros. Human ortholog(s) of this gene implicated in juvenile absence epilepsy 1 and juvenile myoclonic epilepsy. Orthologous to human EFHC1 (EF-hand domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See efhc1 in Genome Data Viewer
    Location:
    chromosome: 20
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 20 NC_007131.7 (48141998..48157595, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 20 NC_007131.6 (47664692..47680289, complement)

    Chromosome 20 - NC_007131.7Genomic Context describing neighboring genes Neighboring gene XK related 5a Neighboring gene translocation associated membrane protein 2 Neighboring gene protein eva-1 homolog A Neighboring gene importin 13b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Evolutionarily ancient association of the FoxJ1 transcription factor with the motile ciliogenic program. Vij S, et al. PLoS Genet, 2012. PMID 23144623, Free PMC Article
    2. The zebrafish foxj1a transcription factor regulates cilia function in response to injury and epithelial stretch. Hellman NE, et al. Proc Natl Acad Sci U S A, 2010 Oct 26. PMID 20937855, Free PMC Article
    3. Foxj1 transcription factors are master regulators of the motile ciliogenic program. Yu X, et al. Nat Genet, 2008 Dec. PMID 19011630
    4. Both ciliary and non-ciliary functions of Foxj1a confer Wnt/β-catenin signaling in zebrafish left-right patterning. Zhu P, et al. Biol Open, 2015 Oct 2. PMID 26432885, Free PMC Article
    5. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC63931

    Gene Ontology Provided by ZFIN

    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
    EF-hand domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_200967.1 → NP_957261.1  EF-hand domain-containing protein 1

      See identical proteins and their annotated locations for NP_957261.1

      Status: PROVISIONAL

      Source sequence(s)
      BC054573
      UniProtKB/TrEMBL
      Q7T2F1
      Related
      ENSDARP00000007503.6, ENSDART00000023058.8
      Conserved Domains (2) summary
      smart00676
      Location:93 → 198
      DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
      pfam06565
      Location:121 → 153
      DUF1126; Repeat of unknown function (DUF1126)

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007131.7 Reference GRCz11 Primary Assembly

      Range
      48141998..48157595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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