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    Tbc1d8 TBC1 domain family, member 8 [ Mus musculus (house mouse) ]

    Gene ID: 54610, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tbc1d8provided by MGI
    Official Full Name
    TBC1 domain family, member 8provided by MGI
    Primary source
    MGI:MGI:1927225
    See related
    Ensembl:ENSMUSG00000003134 AllianceGenome:MGI:1927225
    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
    AD3; VRP; HBLP1
    Summary
    Predicted to enable GTPase activator activity. Is expressed in several structures, including alimentary system; central nervous system; limb segment; sensory organ; and urinary system. Orthologous to human TBC1D8 (TBC1 domain family member 8). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in genital fat pad adult (RPKM 31.0), bladder adult (RPKM 13.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tbc1d8 in Genome Data Viewer
    Location:
    1 B; 1 18.3 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (39410576..39517860, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (39371495..39478778, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene neuronal PAS domain protein 2 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene STARR-seq mESC enhancer starr_00710 Neighboring gene predicted gene, 53549 Neighboring gene ribosomal protein L31 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:39535681-39535790 Neighboring gene STARR-seq mESC enhancer starr_00719 Neighboring gene STARR-seq mESC enhancer starr_00720 Neighboring gene STARR-seq mESC enhancer starr_00721 Neighboring gene STARR-positive B cell enhancer ABC_E7719 Neighboring gene STARR-positive B cell enhancer ABC_E3270 Neighboring gene predicted gene, 24826 Neighboring gene predicted gene, 53550 Neighboring gene CCR4-NOT transcription complex, subunit 11

    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. A new approach to the study of haematopoietic development in the yolk sac and embryoid bodies. Guimarães MJ, et al. Development, 1995 Oct. PMID 7588067
    2. Molecular Characterization of the Genital Organizer: Gene Expression Profile of the Mouse Urethral Plate Epithelium. Armfield BA, et al. J Urol, 2016 Oct. PMID 27173853, Free PMC Article
    3. Mapping brain gene coexpression in daytime transcriptomes unveils diurnal molecular networks and deciphers perturbation gene signatures. Wang N, et al. Neuron, 2022 Oct 19. PMID 36265442, Free PMC Article
    4. Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Bedogni F, et al. Front Mol Neurosci, 2021. PMID 34321999, Free PMC Article
    5. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article

    See all (21) 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 (3) 

    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
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 8
    Names
    BUB2-like protein 1
    GRAM domain
    vascular Rab-GAP/TBC-containing protein

    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_001357521.1 → NP_001344450.1  TBC1 domain family member 8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC074336, AC132571
      Conserved Domains (3) summary
      smart00164
      Location:519 → 725
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13349
      Location:171 → 269
      PH-GRAM1_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
      cd13353
      Location:311 → 406
      PH-GRAM2_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2

    2. NM_001357522.1 → NP_001344451.1  TBC1 domain family member 8 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC074336, AC132571, AK141816, AW493147
      Consensus CDS
      CCDS87821.1
      UniProtKB/TrEMBL
      A0A0A6YWY1
      Related
      ENSMUSP00000141750.2, ENSMUST00000193823.2
      Conserved Domains (3) summary
      smart00164
      Location:504 → 710
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13349
      Location:156 → 254
      PH-GRAM1_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
      cd13353
      Location:296 → 391
      PH-GRAM2_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2

    3. NM_018775.4 → NP_061245.3  TBC1 domain family member 8 isoform 1

      See identical proteins and their annotated locations for NP_061245.3

      Status: VALIDATED

      Source sequence(s)
      AK162371, BC065081, CJ139650, U88873
      Consensus CDS
      CCDS14905.1
      UniProtKB/Swiss-Prot
      Q3TRZ8, Q3URH3, Q3UU99, Q6P1G8, Q9Z1A9
      Related
      ENSMUSP00000049967.6, ENSMUST00000054462.11
      Conserved Domains (3) summary
      smart00164
      Location:504 → 710
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13349
      Location:156 → 254
      PH-GRAM1_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
      cd13353
      Location:296 → 391
      PH-GRAM2_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2

    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_000067.7 Reference GRCm39 C57BL/6J

      Range
      39410576..39517860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321761.3 → XP_017177250.1  TBC1 domain family member 8 isoform X1

      Conserved Domains (3) summary
      smart00164
      Location:519 → 725
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13349
      Location:171 → 269
      PH-GRAM1_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
      cd13353
      Location:311 → 406
      PH-GRAM2_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2

    2. XM_017321765.3 → XP_017177254.1  TBC1 domain family member 8 isoform X2

      Conserved Domains (3) summary
      smart00164
      Location:504 → 710
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13349
      Location:156 → 254
      PH-GRAM1_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
      cd13353
      Location:296 → 391
      PH-GRAM2_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2

    RNA

    1. XR_003956253.2 RNA Sequence

    2. XR_004933825.1 RNA Sequence

    3. XR_001785175.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z1A9.2 GenPept UniProtKB/Swiss-Prot:Q9Z1A9

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