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    Tbc1d5 TBC1 domain family, member 5 [ Mus musculus (house mouse) ]

    Gene ID: 72238, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tbc1d5provided by MGI
    Official Full Name
    TBC1 domain family, member 5provided by MGI
    Primary source
    MGI:MGI:1919488
    See related
    Ensembl:ENSMUSG00000023923 AllianceGenome:MGI:1919488
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1600014N05Rik
    Summary
    Predicted to enable AP-2 adaptor complex binding activity; GTPase activator activity; and retromer complex binding activity. Predicted to be involved in several processes, including macroautophagy; positive regulation of receptor internalization; and retrograde transport, endosome to Golgi. Predicted to be located in autophagosome. Predicted to be part of AP-2 adaptor complex; Atg1/ULK1 kinase complex; and retromer complex. Predicted to be active in Golgi apparatus and endosome membrane. Orthologous to human TBC1D5 (TBC1 domain family member 5). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 5.3), ovary adult (RPKM 4.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tbc1d5 in Genome Data Viewer
    Location:
    17 C; 17 26.47 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (51040155..51488228, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (50733124..51181199, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7543 Neighboring gene phospholipase C-like 2 Neighboring gene STARR-seq mESC enhancer starr_42797 Neighboring gene STARR-seq mESC enhancer starr_42798 Neighboring gene STARR-seq mESC enhancer starr_42799 Neighboring gene B-cell translocation gene 3 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr17:50934807-50935107 Neighboring gene predicted gene, 41598 Neighboring gene STARR-seq mESC enhancer starr_42800 Neighboring gene predicted gene, 31083 Neighboring gene U4 spliceosomal RNA Neighboring gene STARR-positive B cell enhancer ABC_E7544 Neighboring gene STARR-positive B cell enhancer mm9_chr17:51260538-51260838 Neighboring gene STARR-seq mESC enhancer starr_42801 Neighboring gene STARR-seq mESC enhancer starr_42802 Neighboring gene STARR-seq mESC enhancer starr_42803 Neighboring gene STARR-seq mESC enhancer starr_42804 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:51546429-51546665 Neighboring gene RIKEN cDNA C330011F03 gene Neighboring gene STARR-seq mESC enhancer starr_42805 Neighboring gene 60S ribosomal protein L26 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Autophagy-Dependent Shuttling of TBC1D5 Controls Plasma Membrane Translocation of GLUT1 and Glucose Uptake. Roy S, et al. Mol Cell, 2017 Jul 6. PMID 28602638, Free PMC Article
    2. Enhancing Rab7 Activity by Inhibiting TBC1D5 Expression Improves Mitophagy in Alzheimer's Disease Models. Liang X, et al. J Alzheimers Dis, 2024. PMID 38848175
    3. Integration of H-2Z1, a somatosensory cortex-expressed transgene, interferes with the expression of the Satb1 and Tbc1d5 flanking genes and affects the differentiation of a subset of cortical interneurons. Narboux-Nême N, et al. J Neurosci, 2012 May 23. PMID 22623674, Free PMC Article
    4. RNomics: an experimental approach that identifies 201 candidates for novel, small, non-messenger RNAs in mouse. Hüttenhofer A, et al. EMBO J, 2001 Jun 1. PMID 11387227, Free PMC Article
    5. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Enhancing Rab7 Activity by Inhibiting TBC1D5 Expression Improves Mitophagy in Alzheimer's Disease Models.
      Title: Enhancing Rab7 Activity by Inhibiting TBC1D5 Expression Improves Mitophagy in Alzheimer's Disease Models.
    2. TBC1D5 shuttling to autophagosomes during metabolic stress facilitates retromer-dependent GLUT1 trafficking.
      Title: Autophagy-Dependent Shuttling of TBC1D5 Controls Plasma Membrane Translocation of GLUT1 and Glucose Uptake.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0210, mKIAA0210

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables AP-2 adaptor complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables retromer complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in macroautophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to starvation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of AP-2 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Atg1/ULK1 kinase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in autophagosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in autophagosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of retromer complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of retromer complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 5

    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_001285991.1 → NP_001272920.1  TBC1 domain family member 5 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC099694, AC110168, AC125140, AC154214, CT025541
      Consensus CDS
      CCDS89117.1
      UniProtKB/TrEMBL
      A0A286YDB3, Q3U325
      Related
      ENSMUSP00000153172.2, ENSMUST00000224528.2
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. NM_001285993.1 → NP_001272922.1  TBC1 domain family member 5 isoform b

      See identical proteins and their annotated locations for NP_001272922.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded protein (isoform b) is shorter than isoform a. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC099694, AC125140, AC154214, CT025541
      Consensus CDS
      CCDS37650.1
      UniProtKB/Swiss-Prot
      E9PZJ9, Q80XQ2
      UniProtKB/TrEMBL
      Q571D8
      Related
      ENSMUST00000224977.2
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    3. NM_028162.4 → NP_082438.3  TBC1 domain family member 5 isoform b

      See identical proteins and their annotated locations for NP_082438.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded protein (isoform b) is shorter than isoform a. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC154214, AK144467, BC043113
      Consensus CDS
      CCDS37650.1
      UniProtKB/Swiss-Prot
      E9PZJ9, Q80XQ2
      UniProtKB/TrEMBL
      Q571D8
      Related
      ENSMUSP00000024717.9, ENSMUST00000024717.10
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      51040155..51488228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160792.1 → XP_036016685.1  TBC1 domain family member 5 isoform X1

      UniProtKB/TrEMBL
      Q3U325
      Conserved Domains (1) summary
      smart00164
      Location:24 → 326
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. XM_030250062.2 → XP_030105922.1  TBC1 domain family member 5 isoform X3

    3. XM_006524965.5 → XP_006525028.1  TBC1 domain family member 5 isoform X2

      UniProtKB/TrEMBL
      Q3UN43
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    4. XM_006524967.5 → XP_006525030.1  TBC1 domain family member 5 isoform X4

      UniProtKB/TrEMBL
      Q8CC81
      Conserved Domains (1) summary
      smart00164
      Location:79 → 381
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80XQ2.2 GenPept UniProtKB/Swiss-Prot:Q80XQ2

    Gene LinkOut

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

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