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    Tbc1d30 TBC1 domain family, member 30 [ Mus musculus (house mouse) ]

    Gene ID: 74694, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tbc1d30provided by MGI
    Official Full Name
    TBC1 domain family, member 30provided by MGI
    Primary source
    MGI:MGI:1921944
    See related
    Ensembl:ENSMUSG00000052302 AllianceGenome:MGI:1921944
    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
    4930505D03Rik; 9530013E20Rik
    Summary
    Predicted to enable GTPase activator activity and small GTPase binding activity. Predicted to be involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Predicted to be located in ciliary basal body; cytosol; and plasma membrane. Orthologous to human TBC1D30 (TBC1 domain family member 30). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cortex adult (RPKM 11.0), CNS E18 (RPKM 6.8) and 11 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tbc1d30 in Genome Data Viewer
    Location:
    10; 10 D2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (121099724..121187549, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (121263819..121351644, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930432O09 gene Neighboring gene predicted gene, 35404 Neighboring gene STARR-positive B cell enhancer mm9_chr10:120693560-120693860 Neighboring gene POC5 centriolar protein homolog pseudogene Neighboring gene STARR-seq mESC enhancer starr_28083 Neighboring gene STARR-seq mESC enhancer starr_28084 Neighboring gene ribosomal protein L21 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E9808 Neighboring gene STARR-positive B cell enhancer ABC_E11462 Neighboring gene predicted gene, 40785 Neighboring gene STARR-positive B cell enhancer ABC_E9809 Neighboring gene glucosamine (N-acetyl)-6-sulfatase

    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. 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
    2. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    3. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    4. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    General gene information

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    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 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 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
    		  
    Component Evidence Code Pubs
    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 cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 30
    Names
    TBC1 domain family member 30-like

    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_001361015.1 → NP_001347944.1  TBC1 domain family member 30 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC135360, AC140264, BC059081
      Conserved Domains (2) summary
      smart00164
      Location:208 → 429
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam15733
      Location:598 → 726
      DUF4682; Domain of unknown function (DUF4682)

    2. NM_029057.2 → NP_083333.1  TBC1 domain family member 30 isoform 1

      See identical proteins and their annotated locations for NP_083333.1

      Status: VALIDATED

      Source sequence(s)
      BC059081, BC138286
      Consensus CDS
      CCDS48704.1
      UniProtKB/Swiss-Prot
      B9EHP9, Q69ZT9, Q6AXF5, Q6PCX1, Q8C8T3
      Related
      ENSMUSP00000070488.6, ENSMUST00000064107.7
      Conserved Domains (2) summary
      smart00164
      Location:85 → 306
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam15733
      Location:475 → 604
      DUF4682; Domain of unknown function (DUF4682)

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      121099724..121187549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514253.5 → XP_006514316.1  TBC1 domain family member 30 isoform X2

      Conserved Domains (2) summary
      smart00164
      Location:85 → 306
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam15733
      Location:475 → 623
      DUF4682; Domain of unknown function (DUF4682)

    2. XM_006514254.5 → XP_006514317.1  TBC1 domain family member 30 isoform X3

      Conserved Domains (2) summary
      pfam00566
      Location:4 → 114
      RabGAP-TBC; Rab-GTPase-TBC domain
      pfam15733
      Location:275 → 423
      DUF4682; Domain of unknown function (DUF4682)

    3. XM_030245334.2 → XP_030101194.1  TBC1 domain family member 30 isoform X1

      Conserved Domains (2) summary
      smart00164
      Location:208 → 429
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      pfam15733
      Location:598 → 746
      DUF4682; Domain of unknown function (DUF4682)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69ZT9.2 GenPept UniProtKB/Swiss-Prot:Q69ZT9

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
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