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

Gene ID: 54610, updated on 11-Apr-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. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Is expressed in several structures, including alimentary system; cranial ganglion; genitourinary system; limb segment; and sensory organ. Orthologous to human TBC1D8 (TBC1 domain family member 8). [provided by Alliance of Genome Resources, Apr 2022]
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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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. 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
  4. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
  5. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article

See all (18) 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) 

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
  
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 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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