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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
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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

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