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    Tbc1d9 TBC1 domain family, member 9 [ Mus musculus (house mouse) ]

    Gene ID: 71310, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Tbc1d9provided by MGI
    Official Full Name
    TBC1 domain family, member 9provided by MGI
    Primary source
    MGI:MGI:1918560
    See related
    Ensembl:ENSMUSG00000031709 AllianceGenome:MGI:1918560
    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
    4933431N12Rik
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Orthologous to human TBC1D9 (TBC1 domain family member 9). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E18 (RPKM 17.2), cerebellum adult (RPKM 17.2) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tbc1d9 in Genome Data Viewer
    Location:
    8 C2; 8 39.59 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (83891981..83999569)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (83165352..83272940)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene ring finger protein 150 Neighboring gene STARR-seq mESC enhancer starr_22071 Neighboring gene zinc finger protein 235 pseudogene Neighboring gene STARR-seq mESC enhancer starr_22072 Neighboring gene STARR-positive B cell enhancer mm9_chr8:85599639-85599939 Neighboring gene predicted gene, 53443 Neighboring gene STARR-positive B cell enhancer ABC_E6665 Neighboring gene STARR-seq mESC enhancer starr_22076 Neighboring gene predicted gene, 53444 Neighboring gene predicted gene, 42027 Neighboring gene ribosomal protein 10 pseudogene Neighboring gene STARR-seq mESC enhancer starr_22078 Neighboring gene STARR-seq mESC enhancer starr_22080 Neighboring gene STARR-positive B cell enhancer ABC_E1762 Neighboring gene uncoupling protein 1 (mitochondrial, proton carrier) Neighboring gene ELMO/CED-12 domain containing 2

    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. ILDR2 stabilization is regulated by its interaction with GRP78. Watanabe K, et al. Sci Rep, 2021 Apr 16. PMID 33863978, Free PMC Article
    2. Functional consequences of necdin nucleocytoplasmic localization. Lavi-Itzkovitz A, et al. PLoS One, 2012. PMID 22442722, Free PMC Article
    3. Conserved molecular signatures of neurogenesis in the hippocampal subgranular zone of rodents and primates. Miller JA, et al. Development, 2013 Nov. PMID 24154525, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895
    5. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 9

    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_001111304.1 → NP_001104774.1  TBC1 domain family member 9 isoform 1

      See identical proteins and their annotated locations for NP_001104774.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC166939, AI847101, AK134614, AK173050, BB396007, BE853276
      Consensus CDS
      CCDS52607.1
      UniProtKB/Swiss-Prot
      Q3UYK3, Q69ZW8, Q8BIJ5, Q8BVP3, Q9CUB3
      Related
      ENSMUSP00000091093.5, ENSMUST00000093393.5
      Conserved Domains (4) summary
      smart00164
      Location:512 → 722
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13354
      Location:304 → 399
      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
      cd13351
      Location:157 → 255
      PH-GRAM1_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 1
      cl08302
      Location:893 → 923
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    2. NM_027758.4 → NP_082034.1  TBC1 domain family member 9 isoform 2

      See identical proteins and their annotated locations for NP_082034.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several alternate in-frame exons compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC122890, AC166939, AK049049
      Consensus CDS
      CCDS22448.1
      UniProtKB/TrEMBL
      Q6PGG9
      Related
      ENSMUSP00000034145.5, ENSMUST00000034145.11
      Conserved Domains (3) summary
      smart00164
      Location:279 → 489
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cl08302
      Location:660 → 690
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cl17171
      Location:120 → 166
      PH-like; Pleckstrin homology-like 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_000074.7 Reference GRCm39 C57BL/6J

      Range
      83891981..83999569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243771.2 → XP_030099631.1  TBC1 domain family member 9 isoform X1

      UniProtKB/TrEMBL
      Q6PGG9
      Conserved Domains (4) summary
      smart00164
      Location:359 → 569
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13354
      Location:151 → 246
      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
      cd13351
      Location:4 → 102
      PH-GRAM1_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 1
      cl08302
      Location:740 → 770
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UYK3.2 GenPept UniProtKB/Swiss-Prot:Q3UYK3

    Gene LinkOut

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

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