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    Efhc1.2 EF-hand domain containing 1.2 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 37284, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Efhc1.2provided by FlyBase
    Official Full Name
    EF-hand domain containing 1.2provided by FlyBase
    Primary source
    FLYBASE:FBgn0034487
    Locus tag
    Dmel_CG11048
    See related
    AllianceGenome:FB:FBgn0034487
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG11048; Dmel\CG11048
    Summary
    Predicted to be involved in cilium assembly and regulation of neuron projection development. Predicted to colocalize with microtubule. Is expressed in embryonic anal pad; embryonic head sensory system; embryonic hindgut; embryonic large intestine; and sensory nervous system primordium. Orthologous to human EFHC2 (EF-hand domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Efhc1.2 in Genome Data Viewer
    Location:
    56F11-56F11; 2-90 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (20239936..20242873)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (16127441..16130378)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene 2-hydroxyacyl-CoA lyase Neighboring gene pickpocket 6 Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila. Rossetto MG, et al. Hum Mol Genet, 2011 Nov 1. PMID 21835885
    2. Primary cilia contribute to the aggressiveness of atypical teratoid/rhabdoid tumors. Blümel L, et al. Cell Death Dis, 2022 Sep 20. PMID 36127323, Free PMC Article
    3. Identification of novel regulatory factor X (RFX) target genes by comparative genomics in Drosophila species. Laurençon A, et al. Genome Biol, 2007. PMID 17875208, Free PMC Article
    4. Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis. Avidor-Reiss T, et al. Cell, 2004 May 14. PMID 15137945
    5. Genome-wide measurement of spatial expression in patterning mutants of Drosophila melanogaster. Combs PA, et al. F1000Res, 2017. PMID 28299188, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Process Evidence Code Pubs
    involved_in cilium assembly ISM
    Inferred from Sequence Model
    more info
    		 PubMed 
    involved_in regulation of neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    EF-hand domain containing 1.2
    Names
    CG11048-PA
    Defhc1.2
    EFHC1 homolog
    EFHC1 homologue 2
    Efhc1.2-PA

    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. NT_033778.4 Reference assembly

      Range
      20239936..20242873
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_137615.3 → NP_611459.1  EF-hand domain containing 1.2 [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_611459.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q7K2N1
      Related
      FBpp0085625
      Conserved Domains (2) summary
      smart00676
      Location:84 → 191
      DM10; Domains in hypothetical proteins in Drosophila, C. elegans and mammals. Occurs singly in some nucleoside diphosphate kinases
      pfam06565
      Location:463 → 495
      DUF1126; Repeat of unknown function (DUF1126)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7K2N1 Q7K2N1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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