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    Tbc1d8-9 TBC1 domain family member 8/9 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 40361, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tbc1d8-9provided by FlyBase
    Official Full Name
    TBC1 domain family member 8/9provided by FlyBase
    Primary source
    FLYBASE:FBgn0037074
    Locus tag
    Dmel_CG7324
    See related
    AllianceGenome:FB:FBgn0037074
    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
    CG7324; Dmel\CG7324; Tbc1d8b
    Summary
    Predicted to enable GTPase activator activity. Is expressed in adult head and spermatozoon. Used to study nephrotic syndrome type 20. Human ortholog(s) of this gene implicated in nephrotic syndrome type 20. Orthologous to several human genes including TBC1D8 (TBC1 domain family member 8); TBC1D8B (TBC1 domain family member 8B); and TBC1D9 (TBC1 domain family member 9). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Tbc1d8-9 in Genome Data Viewer
    Location:
    78C7-78C8; 3-47 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3L NT_037436.4 (21337681..21343716, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3L NT_037436.3 (21330781..21336816, complement)

    Chromosome 3L - NT_037436.4Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR45674 Neighboring gene Rab26 Neighboring gene antisense RNA:CR46068 Neighboring gene Tsr1 ribosome assembly factor Neighboring gene uncharacterized protein Neighboring gene earthbound 2 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. TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. Kampf LL, et al. J Am Soc Nephrol, 2019 Dec. PMID 31732614, Free PMC Article
    2. Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila. Milosavljevic J, et al. J Am Soc Nephrol, 2022 Dec. PMID 36137753, Free PMC Article
    3. Interaction of the sorting nexin 25 homologue Snazarus with Rab11 balances endocytic and secretory transport and maintains the ultrafiltration diaphragm in nephrocytes. Maruzs T, et al. Mol Biol Cell, 2023 Aug 1. PMID 37314856, Free PMC Article
    4. Comparative transcriptional profiling and evolutionary analysis of the GRAM domain family in eukaryotes. Jiang SY, et al. Dev Biol, 2008 Feb 15. PMID 18201690
    5. Reduced histone gene copy number disrupts Drosophila Polycomb function. McPherson JE, et al. Genetics, 2023 Aug 9. PMID 37279945, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila.
      Title: Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila.
    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

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 8/9
    Names
    CG7324-PA
    CG7324-PB
    Tbc1d8-9-PA
    Tbc1d8-9-PB

    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_037436.4 Reference assembly

      Range
      21337681..21343716 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001275224.1 → NP_001262153.1  TBC1 domain family member 8/9, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001262153.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      M9PIF1
      Conserved Domains (3) summary
      smart00164
      Location:462 → 670
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13354
      Location:293 → 389
      PH-GRAM2_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
      cd13217
      Location:147 → 249
      PH-GRAM1_TCB1D8_TCB1D9_family; TCB1D8 and TCB1D9 family Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1

    2. NM_141048.2 → NP_649305.1  TBC1 domain family member 8/9, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_649305.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VP46
      Related
      FBpp0078058
      Conserved Domains (3) summary
      smart00164
      Location:462 → 670
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13354
      Location:293 → 389
      PH-GRAM2_TCB1D9_TCB1D9B; TBC1 domain family members 9 and 9B (TBC1D9 and TBC1D9B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
      cd13217
      Location:147 → 249
      PH-GRAM1_TCB1D8_TCB1D9_family; TCB1D8 and TCB1D9 family Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    M9PIF1 M9PIF1
    Q9VP46 Q9VP46

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