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    Tbc1d7 TBC1 domain family, member 7 [ Mus musculus (house mouse) ]

    Gene ID: 67046, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tbc1d7provided by MGI
    Official Full Name
    TBC1 domain family, member 7provided by MGI
    Primary source
    MGI:MGI:1914296
    See related
    Ensembl:ENSMUSG00000021368 AllianceGenome:MGI:1914296
    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
    2610009C09Rik
    Summary
    Predicted to enable GTPase activator activity; TSC1-TSC2 complex binding activity; and small GTPase binding activity. Involved in activation of GTPase activity and negative regulation of TOR signaling. Predicted to be located in ciliary basal body; cytoplasmic vesicle; and cytosol. Predicted to be part of TSC1-TSC2 complex. Predicted to be active in lysosomal membrane. Is expressed in adrenal medulla; cranial ganglion; and dorsal root ganglion. Orthologous to human TBC1D7 (TBC1 domain family member 7). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 9.2), whole brain E14.5 (RPKM 9.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tbc1d7 in Genome Data Viewer
    Location:
    13 A4; 13 21.31 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (43305214..43324977, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (43151740..43171501, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene phosphatase and actin regulator 1 Neighboring gene predicted gene, 52053 Neighboring gene predicted gene 15813 Neighboring gene STARR-positive B cell enhancer ABC_E9398 Neighboring gene predicted gene, 40929 Neighboring gene STARR-seq mESC enhancer starr_34334 Neighboring gene glucose-fructose oxidoreductase domain containing 1 Neighboring gene predicted gene, 53215

    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. The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth. Schrötter S, et al. Cell Rep, 2022 May 17. PMID 35584673, Free PMC Article
    2. TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1. Dibble CC, et al. Mol Cell, 2012 Aug 24. PMID 22795129, Free PMC Article
    3. Rearrangement of the Protein Phosphatase 1 Interactome During Heart Failure Progression. Chiang DY, et al. Circulation, 2018 Oct 9. PMID 29669786, Free PMC Article
    4. Identification of 14-3-3epsilon substrates from embryonic murine brain. Ballif BA, et al. J Proteome Res, 2006 Sep. PMID 16944949
    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 (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth.
      Title: The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    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 MGI

    Function Evidence Code Pubs
    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 GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables TSC1-TSC2 complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in activation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to starvation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of TOR signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of TOR signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of TORC1 signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of TORC1 signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to growth factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to growth factor ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of TSC1-TSC2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of TSC1-TSC2 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of TSC1-TSC2 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 7

    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_001252639.1 → NP_001239568.1  TBC1 domain family member 7 isoform 1

      See identical proteins and their annotated locations for NP_001239568.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      BC145157, BY166141, DN174647
      Consensus CDS
      CCDS26476.1
      UniProtKB/Swiss-Prot
      B7ZNC1, Q05AE0, Q3U0V0, Q9D0K0
      UniProtKB/TrEMBL
      A0A1Y7VN27
      Related
      ENSMUSP00000137280.2, ENSMUST00000179852.9
      Conserved Domains (1) summary
      cl02495
      Location:147 → 247
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. NM_001252640.1 → NP_001239569.1  TBC1 domain family member 7 isoform 2

      See identical proteins and their annotated locations for NP_001239569.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 3' coding region, compared to variant 1. The reading frame is not affected and the resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      BC145156, BY166141, DN174647
      Consensus CDS
      CCDS88446.1
      UniProtKB/TrEMBL
      A0A1Y7VN27
      Related
      ENSMUSP00000152358.2, ENSMUST00000220787.2
      Conserved Domains (1) summary
      cl02495
      Location:145 → 225
      RabGAP-TBC; Rab-GTPase-TBC domain

    3. NM_025935.3 → NP_080211.1  TBC1 domain family member 7 isoform 1

      See identical proteins and their annotated locations for NP_080211.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK011356, BY166141, DN174647
      Consensus CDS
      CCDS26476.1
      UniProtKB/Swiss-Prot
      B7ZNC1, Q05AE0, Q3U0V0, Q9D0K0
      UniProtKB/TrEMBL
      A0A1Y7VN27
      Related
      ENSMUSP00000021797.9, ENSMUST00000021797.9
      Conserved Domains (1) summary
      cl02495
      Location:147 → 247
      RabGAP-TBC; Rab-GTPase-TBC domain

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      43305214..43324977 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158132.1 → XP_036014025.1  TBC1 domain family member 7 isoform X1

      UniProtKB/TrEMBL
      A0A1Y7VN27
      Related
      ENSMUSP00000152208.2, ENSMUST00000222160.2
      Conserved Domains (1) summary
      cl02495
      Location:145 → 225
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. XM_006516945.4 → XP_006517008.1  TBC1 domain family member 7 isoform X2

      Conserved Domains (1) summary
      cl02495
      Location:92 → 198
      RabGAP-TBC; Rab-GTPase-TBC domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D0K0.1 GenPept UniProtKB/Swiss-Prot:Q9D0K0

    Gene LinkOut

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

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