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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
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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

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