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    sky skywalker [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 35359, updated on 4-Apr-2024

    Summary

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    Official Symbol
    skyprovided by FlyBase
    Official Full Name
    skywalkerprovided by FlyBase
    Primary source
    FLYBASE:FBgn0032901
    Locus tag
    Dmel_CG9339
    See related
    AllianceGenome:FB:FBgn0032901
    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
    anon-WO0118547.455; CG14399; CG9339; CG9340; Dmel\CG9339; Sky
    Summary
    Enables GTPase activator activity. Involved in negative regulation of transport; neuromuscular synaptic transmission; and synaptic vesicle recycling via endosome. Located in neuromuscular junction; postsynapse; and terminal bouton. Is expressed in adult head; embryonic/larval somatic muscle cell; and organism. Used to study DOORS syndrome and neurodegenerative disease. Human ortholog(s) of this gene implicated in DOORS syndrome; epilepsy (multiple); and nonsyndromic deafness (multiple). Orthologous to human TBC1D24 (TBC1 domain family member 24). [provided by Alliance of Genome Resources, Apr 2022]
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    Genomic context

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    Location:
    38F3-38F5; 2-54 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2L NT_033779.5 (20871335..20918931, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2L NT_033779.4 (20871335..20918931, complement)

    Chromosome 2L - NT_033779.5Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene antisense RNA:CR44981 Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene pseudo Neighboring gene Microsomal triacylglycerol transfer protein Neighboring gene pseudo

    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 Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation. Parzefall T, et al. Front Cell Neurosci, 2020. PMID 33281559, Free PMC Article
    2. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. Lüthy K, et al. Brain, 2019 Aug 1. PMID 31257402
    3. Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function. Fischer B, et al. Nat Struct Mol Biol, 2016 Nov. PMID 27669036
    4. Fast and efficient Drosophila melanogaster gene knock-ins using MiMIC transposons. Vilain S, et al. G3 (Bethesda), 2014 Oct 8. PMID 25298537, Free PMC Article
    5. New approaches for studying synaptic development, function, and plasticity using Drosophila as a model system. Frank CA, et al. J Neurosci, 2013 Nov 6. PMID 24198346, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The crystal structure of the TBC domain of the Drosophila ortholog Skywalker, revealing an unanticipated cationic pocket conserved among TBC1D24 homologs. Cocrystallization and biochemistry showed that this pocket binds phosphoinositides phosphorylated at the 4 and 5 positions. The most prevalent patient mutations affect the phosphoinositide-binding pocket and inhibit lipid binding.
      Title: Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.
    2. this paper studies Drosophila melanogaster lacking active TBC1D24/Skywalker (Sky), a protein that in humans causes severe neurodegeneration, epilepsy, and DOOR (deafness, onychdystrophy, osteodystrophy, and mental retardation) syndrome, and identify endosome-to-lysosome trafficking as a mechanism for degradation of synaptic vesicle-associated proteins.
      Title: Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    mobile_element

    • Loc: c20896634-20891618 mobile_element_type = transposon:jockey{}477
    • Loc: c20902616-20901513 mobile_element_type = transposon:1360{}478

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables GTPase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of neurotransmitter secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of synaptic vesicle recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuromuscular synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in synaptic vesicle endosomal processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic vesicle endosomal processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic vesicle recycling via endosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vesicle-mediated transport in synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in terminal bouton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    skywalker
    Names
    CG9339-PA
    CG9339-PB
    CG9339-PC
    CG9339-PD
    CG9339-PE
    CG9339-PF
    CG9339-PG
    CG9339-PH
    CG9339-PI
    CG9339-PJ
    CG9339-PK
    CG9339-PL
    sky-PA
    sky-PB
    sky-PC
    sky-PD
    sky-PE
    sky-PF
    sky-PG
    sky-PH
    sky-PI
    sky-PJ
    sky-PK
    sky-PL

    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_033779.5 Reference assembly

      Range
      20871335..20918931 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_165349.4 → NP_724301.2  skywalker, isoform G [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_724301.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q0E8N9, Q6Q4F0
      Related
      FBpp0080969
      Conserved Domains (2) summary
      smart00584
      Location:388 → 566
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:82 → 293
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. NM_136229.5 → NP_610073.1  skywalker, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_610073.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      D3DML7, Q8INU4, Q8MSY5, Q8MT51, Q8T0D2, Q9VIH7
      UniProtKB/TrEMBL
      Q6Q4F0
      Related
      FBpp0080970
      Conserved Domains (2) summary
      smart00584
      Location:410 → 585
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:82 → 293
      RabGAP-TBC; Rab-GTPase-TBC domain

    3. NM_001273720.1 → NP_001260649.1  skywalker, isoform J [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001260649.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q6Q4F0
      Conserved Domains (2) summary
      smart00584
      Location:431 → 605
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:82 → 293
      RabGAP-TBC; Rab-GTPase-TBC domain

    4. NM_001273722.1 → NP_001260651.1  skywalker, isoform L [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001260651.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      M9PDI9, Q6Q4F0
      Conserved Domains (2) summary
      smart00584
      Location:430 → 604
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:82 → 293
      RabGAP-TBC; Rab-GTPase-TBC domain

    5. NM_206017.3 → NP_995739.1  skywalker, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_995739.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q0E8N9, Q6Q4F0
      Conserved Domains (2) summary
      smart00584
      Location:388 → 566
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:82 → 293
      RabGAP-TBC; Rab-GTPase-TBC domain

    6. NM_206016.3 → NP_995738.1  skywalker, isoform H [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_995738.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      D3DML7, Q8INU4, Q8MSY5, Q8MT51, Q8T0D2, Q9VIH7
      UniProtKB/TrEMBL
      Q6Q4F0
      Conserved Domains (2) summary
      smart00584
      Location:410 → 585
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:82 → 293
      RabGAP-TBC; Rab-GTPase-TBC domain

    7. NM_165348.4 → NP_724300.2  skywalker, isoform E [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_724300.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q0E8N9, Q6Q4F0
      Related
      FBpp0080972
      Conserved Domains (2) summary
      smart00584
      Location:388 → 566
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:82 → 293
      RabGAP-TBC; Rab-GTPase-TBC domain

    8. NM_165350.4 → NP_724302.1  skywalker, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_724302.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      D3DML7, Q8INU4, Q8MSY5, Q8MT51, Q8T0D2, Q9VIH7
      UniProtKB/TrEMBL
      Q6Q4F0
      Related
      FBpp0080971
      Conserved Domains (2) summary
      smart00584
      Location:410 → 585
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:82 → 293
      RabGAP-TBC; Rab-GTPase-TBC domain

    9. NM_001273721.1 → NP_001260650.1  skywalker, isoform K [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001260650.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      M9PDV9, Q6Q4F0
      Conserved Domains (2) summary
      smart00584
      Location:421 → 595
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:82 → 293
      RabGAP-TBC; Rab-GTPase-TBC domain

    10. NM_165352.4 → NP_724304.1  skywalker, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_724304.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q6Q4F0, Q9VIH6
      Related
      FBpp0080973
      Conserved Domains (2) summary
      smart00584
      Location:415 → 590
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:87 → 298
      RabGAP-TBC; Rab-GTPase-TBC domain

    11. NM_001169555.1 → NP_001163026.1  skywalker, isoform I [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001163026.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q6Q4F0
      Conserved Domains (2) summary
      smart00584
      Location:393 → 571
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:87 → 298
      RabGAP-TBC; Rab-GTPase-TBC domain

    12. NM_165351.4 → NP_724303.2  skywalker, isoform F [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_724303.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q6Q4F0
      Related
      FBpp0080974
      Conserved Domains (2) summary
      smart00584
      Location:393 → 571
      TLDc; domain in TBC and LysM domain containing proteins
      cl02495
      Location:87 → 298
      RabGAP-TBC; Rab-GTPase-TBC domain
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    M9PDI9 M9PDI9
    M9PDV9 M9PDV9
    Q0E8N9 Q0E8N9
    Q6Q4F0 Q6Q4F0
    Q6Q4F1 Q6Q4F1
    Q9VIH6 Q9VIH6
    Q9VIH7.2 Q9VIH7

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