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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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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

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