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

Gene ID: 72238, updated on 11-Apr-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 activation of GTPase activity; positive regulation of receptor internalization; and retrograde transport, endosome to Golgi. Predicted to act upstream of or within protein transport. Predicted to be located in Golgi apparatus; autophagosome; and endosome membrane. Predicted to be part of AP-2 adaptor complex; Atg1/ULK1 kinase complex; and retromer complex. Orthologous to human TBC1D5 (TBC1 domain family member 5). [provided by Alliance of Genome Resources, Apr 2022]
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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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. 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
  3. 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
  4. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article
  5. Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders. Li J, et al. Nat Neurosci, 2017 Aug. PMID 28671696, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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 protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
enables retromer complex binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in autophagy ISO
Inferred from Sequence Orthology
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
  
acts_upstream_of_or_within 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 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
  
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in autophagosome ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in endosome 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
  
located_in membrane IEA
Inferred from Electronic Annotation
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

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