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    ema endosomal maturation defective [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 41992, updated on 9-Dec-2024

    Summary

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    Official Symbol
    emaprovided by FlyBase
    Official Full Name
    endosomal maturation defectiveprovided by FlyBase
    Primary source
    FLYBASE:FBgn0038427
    Locus tag
    Dmel_CG12753
    See related
    AllianceGenome:FB:FBgn0038427
    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
    CG12753; Dmel\CG12753; Ema
    Summary
    Enables small GTPase binding activity. Involved in endosomal transport and endosome to lysosome transport. Located in Golgi apparatus and membrane. Colocalizes with late endosome. Is expressed in adult head and organism. Human ortholog(s) of this gene implicated in Addison's disease; multiple sclerosis; rheumatoid arthritis; and type 1 diabetes mellitus. Orthologous to human CLEC16A (C-type lectin domain containing 16A). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See ema in Genome Data Viewer
    Location:
    89B16-89B16; 3-58 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (16436880..16441661, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (12262602..12267383, complement)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene Farnesyl transferase beta subunit Neighboring gene uncharacterized protein Neighboring gene mitochondrial ribosomal protein S33 Neighboring gene Tetratricopeptide repeat domain 1 Neighboring gene uncharacterized protein Neighboring gene Pak3

    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. A role for the membrane Golgi protein Ema in autophagy. Kim S, et al. Autophagy, 2012 Aug. PMID 22713284
    2. Drosophila Golgi membrane protein Ema promotes autophagosomal growth and function. Kim S, et al. Proc Natl Acad Sci U S A, 2012 May 1. PMID 22493244, Free PMC Article
    3. The BMP signaling pathway at the Drosophila neuromuscular junction and its links to neurodegenerative diseases. Bayat V, et al. Curr Opin Neurobiol, 2011 Feb. PMID 20832291, Free PMC Article
    4. The structure and population genetics of the breakpoints associated with the cosmopolitan chromosomal inversion In(3R)Payne in Drosophila melanogaster. Matzkin LM, et al. Genetics, 2005 Jul. PMID 15781702, Free PMC Article
    5. 5-Hydroxymethylation-associated epigenetic modifiers of Alzheimer's disease modulate Tau-induced neurotoxicity. Bernstein AI, et al. Hum Mol Genet, 2016 Jun 15. PMID 27060332, Free PMC Article

    See all (34) 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

    Function Evidence Code Pubs
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosomal transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of autophagosome maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vacuolar transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with late endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    endosomal maturation defective
    Names
    CG12753-PA
    CG12753-PB
    CG12753-PC
    ema-PA
    ema-PB
    ema-PC

    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_033777.3 Reference assembly

      Range
      16436880..16441661 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001275706.1 → NP_001262635.1  endosomal maturation defective, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001262635.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4KH88
      Conserved Domains (1) summary
      pfam09758
      Location:50 → 199
      FPL; uncharacterized conserved protein

    2. NM_001038969.2 → NP_001034058.1  endosomal maturation defective, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001034058.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q9VEV4
      Conserved Domains (1) summary
      pfam09758
      Location:50 → 199
      FPL; uncharacterized conserved protein

    3. NM_142285.2 → NP_650542.1  endosomal maturation defective, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_650542.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q5BIH5, Q8MRD4, Q9VEV4
      Related
      FBpp0082766
      Conserved Domains (1) summary
      pfam09758
      Location:50 → 199
      FPL; Uncharacterized conserved protein
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0B4KH88 A0A0B4KH88
    Q9VEV4.2 Q9VEV4

    Gene LinkOut

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

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