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    Tbc1d1 TBC1 domain family member 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 360937, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tbc1d1provided by RGD
    Official Full Name
    TBC1 domain family member 1provided by RGD
    Primary source
    RGD:1304562
    See related
    EnsemblRapid:ENSRNOG00000002180 AllianceGenome:RGD:1304562
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable GTPase activator activity. Involved in negative regulation of insulin secretion involved in cellular response to glucose stimulus. Predicted to be active in Golgi apparatus. Orthologous to human TBC1D1 (TBC1 domain family member 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 143.5), Kidney (RPKM 137.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Tbc1d1 in Genome Data Viewer
    Location:
    14p11
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 14 NC_086032.1 (44289241..44489246, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 14 NC_051349.1 (43936820..44135133, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 14 NC_005113.4 (45598753..45797650, complement)

    Chromosome 14 - NC_086032.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134481747 Neighboring gene uncharacterized LOC120096607 Neighboring gene uncharacterized LOC120096609 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene phosphoglucomutase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. The Rab-GTPase activating protein, TBC1D1, is critical for maintaining normal glucose homeostasis and β-cell mass. Paglialunga S, et al. Appl Physiol Nutr Metab, 2017 Jun. PMID 28177704
    2. Ablating the protein TBC1D1 impairs contraction-induced sarcolemmal glucose transporter 4 redistribution but not insulin-mediated responses in rats. Whitfield J, et al. J Biol Chem, 2017 Oct 6. PMID 28808062, Free PMC Article
    3. Expression, phosphorylation and function of the Rab-GTPase activating protein TBC1D1 in pancreatic beta-cells. Rütti S, et al. FEBS Lett, 2014 Jan 3. PMID 24239544
    4. EPI64 protein functions as a physiological GTPase-activating protein for Rab27 protein and regulates amylase release in rat parotid acinar cells. Imai A, et al. J Biol Chem, 2011 Sep 30. PMID 21832089, Free PMC Article
    5. Increased AS160 phosphorylation, but not TBC1D1 phosphorylation, with increased postexercise insulin sensitivity in rat skeletal muscle. Funai K, et al. Am J Physiol Endocrinol Metab, 2009 Jul. PMID 19435856, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. fundamental role for TBC1D1 in maintaining in vivo beta-cell mass
      Title: The Rab-GTPase activating protein, TBC1D1, is critical for maintaining normal glucose homeostasis and β-cell mass.
    2. results highlight a critical role for TBC1D1 in exercise tolerance and contraction-mediated translocation of GLUT4 to the plasma membrane in skeletal muscle.
      Title: Ablating the protein TBC1D1 impairs contraction-induced sarcolemmal glucose transporter 4 redistribution but not insulin-mediated responses in rats.
    3. Data show that TBC1D1 is expressed and phosphorylated in response to glucose in these cells.
      Title: Expression, phosphorylation and function of the Rab-GTPase activating protein TBC1D1 in pancreatic beta-cells.
    4. Significant differences found among the muscles for GLUT4 (2.5-fold), TUG (1.7-fold), RUVBL2 (2.0-fold), and TBC1D1 (2.7-fold), but not AS160.
      Title: Clustering of GLUT4, TUG, and RUVBL2 protein levels correlate with myosin heavy chain isoform pattern in skeletal muscles, but AS160 and TBC1D1 levels do not.
    5. EPI64 acted as a physiological Rab27-GAP that enhanced GTPase activity of Rab27 in response to IPR stimulation, and that this activity is required for IPR-induced amylase release.
      Title: EPI64 protein functions as a physiological GTPase-activating protein for Rab27 protein and regulates amylase release in rat parotid acinar cells.
    6. Increased TBC1D1 phosphorylation may play a role in the insulin-independent increase in glucose transport postexercise.
      Title: Increased AS160 phosphorylation, but not TBC1D1 phosphorylation, with increased postexercise insulin sensitivity in rat skeletal muscle.
    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 RGD

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in regulation of cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 1
    Names
    TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001427317.1 → NP_001414246.1  TBC1 domain family member 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000014
      UniProtKB/TrEMBL
      A0A8I5ZLK4, A0A8I5ZMX5
      Related
      ENSRNOP00000079436.1, ENSRNOT00000116025.2

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086032.1 Reference GRCr8

      Range
      44289241..44489246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006251004.5 → XP_006251066.1  TBC1 domain family member 1 isoform X1

      See identical proteins and their annotated locations for XP_006251066.1

      UniProtKB/TrEMBL
      A0A8I5ZLK4, A0A8I5ZMX5
      Conserved Domains (4) summary
      smart00164
      Location:886 → 1103
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:784 → 834
      DUF3350; Domain of unknown function (DUF3350)

    2. XM_341215.10 → XP_341216.4  TBC1 domain family member 1 isoform X3

      See identical proteins and their annotated locations for XP_341216.4

      UniProtKB/TrEMBL
      A0A8I5ZLK4, A0A8I6AB45
      Related
      ENSRNOP00000088613.1, ENSRNOT00000113583.2
      Conserved Domains (4) summary
      smart00164
      Location:791 → 1008
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:689 → 739
      DUF3350; Domain of unknown function (DUF3350)

    3. XM_006251005.5 → XP_006251067.1  TBC1 domain family member 1 isoform X2

      See identical proteins and their annotated locations for XP_006251067.1

      UniProtKB/TrEMBL
      A0A8I5ZLK4, A0A8I6G5Y5
      Conserved Domains (4) summary
      smart00164
      Location:831 → 1048
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd00934
      Location:21 → 150
      PTB; Phosphotyrosine-binding (PTB) PH-like fold
      cd01269
      Location:164 → 365
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:729 → 779
      DUF3350; Domain of unknown function (DUF3350)

    4. XM_063273343.1 → XP_063129413.1  TBC1 domain family member 1 isoform X6

      UniProtKB/TrEMBL
      A0A8I5ZLK4, D4AC16
      Related
      ENSRNOP00000033018.5, ENSRNOT00000029209.9

    5. XM_063273342.1 → XP_063129412.1  TBC1 domain family member 1 isoform X5

      UniProtKB/TrEMBL
      A0A8I5ZLK4

    6. XM_006251006.4 → XP_006251068.1  TBC1 domain family member 1 isoform X4

      See identical proteins and their annotated locations for XP_006251068.1

      UniProtKB/TrEMBL
      A0A8I5ZLK4
      Conserved Domains (3) summary
      smart00164
      Location:757 → 974
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01269
      Location:35 → 236
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:655 → 705
      DUF3350; Domain of unknown function (DUF3350)

    7. XM_006251007.4 → XP_006251069.1  TBC1 domain family member 1 isoform X7

      See identical proteins and their annotated locations for XP_006251069.1

      UniProtKB/TrEMBL
      A0A8I5ZLK4
      Conserved Domains (3) summary
      smart00164
      Location:661 → 878
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01269
      Location:43 → 140
      PTB_TBC1D1_like; TBC1 domain family member 1 and related proteins Phosphotyrosine-binding (PTB) domain
      pfam11830
      Location:559 → 609
      DUF3350; Domain of unknown function (DUF3350)

    8. XM_063273344.1 → XP_063129414.1  TBC1 domain family member 1 isoform X8

      UniProtKB/TrEMBL
      A6JDH3
    Nucleotide Protein Strain
    Heading Accession and Version

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