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    Plekhm1 Pleckstrin homology and RUN domain containing M1 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 37520, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Plekhm1provided by FlyBase
    Official Full Name
    Pleckstrin homology and RUN domain containing M1provided by FlyBase
    Primary source
    FLYBASE:FBgn0034694
    Locus tag
    Dmel_CG6613
    See related
    AllianceGenome:FB:FBgn0034694
    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
    CG6613; Dmel\CG6613
    Summary
    Enables small GTPase binding activity. Involved in secretory granule-lysosome fusion. Is expressed in organism. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 6 and osteopetrosis. Orthologous to several human genes including PLEKHM1 (pleckstrin homology and RUN domain containing M1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Plekhm1 in Genome Data Viewer
    Location:
    58B7-58B8; 2-98 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (22103177..22105963)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (17990682..17993468)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene flapper Neighboring gene Verprolin 1 Neighboring gene uncharacterized protein 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. Isolation and characterization of novel plekhm1 and def8 mutant alleles in Drosophila. Maruzs T, et al. Biol Futur, 2022 Jun. PMID 35507305
    2. RUN domains: a new family of domains involved in Ras-like GTPase signaling. Callebaut I, et al. Trends Biochem Sci, 2001 Feb. PMID 11166556
    3. Rab2 promotes autophagic and endocytic lysosomal degradation. Lőrincz P, et al. J Cell Biol, 2017 Jul 3. PMID 28483915, Free PMC Article
    4. The autophagy protein Def8 is altered in Alzheimer's disease and Aβ42-expressing Drosophila brains. Oyarce-Pezoa S, et al. Sci Rep, 2023 Oct 10. PMID 37816871, Free PMC Article
    5. WIP/WASp-based actin-polymerization machinery is essential for myoblast fusion in Drosophila. Massarwa R, et al. Dev Cell, 2007 Apr. PMID 17419994

    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 secretory granule-lysosome fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pleckstrin homology and RUN domain containing M1
    Names
    CG6613-PA
    Plekhm1-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
      22103177..22105963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_137795.3 → NP_611639.1  pleckstrin homology and RUN domain containing M1 [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_611639.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      C9QPB2, Q9W293
      Related
      FBpp0071672
      Conserved Domains (2) summary
      pfam02759
      Location:54 → 185
      RUN; RUN domain
      pfam13901
      Location:500 → 700
      zf-RING_9; Putative zinc-RING and/or ribbon
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9W293 Q9W293

    Gene LinkOut

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

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