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    Tbc1d32 TBC1 domain family, member 32 [ Mus musculus (house mouse) ]

    Gene ID: 544696, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Tbc1d32provided by MGI
    Official Full Name
    TBC1 domain family, member 32provided by MGI
    Primary source
    MGI:MGI:2442827
    See related
    Ensembl:ENSMUSG00000038122 AllianceGenome:MGI:2442827
    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
    Bromi; C6orf170; b2b2284Clo; D630037F22Rik
    Summary
    Acts upstream of or within several processes, including camera-type eye development; non-motile cilium assembly; and regionalization. Predicted to be located in cilium and cytoplasm. Is expressed in embryo. Used to study Bardet-Biedl syndrome; Meckel syndrome; VACTERL association; and visceral heterotaxy. Orthologous to human TBC1D32 (TBC1 domain family member 32). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 1.5), CNS E18 (RPKM 1.1) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tbc1d32 in Genome Data Viewer
    Location:
    10 B3; 10 28.45 cM
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (55890389..56106495, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (56014293..56228968, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 31849 Neighboring gene putative heat shock protein HSP 90-beta-3 Neighboring gene STARR-seq mESC enhancer starr_26716 Neighboring gene STARR-seq mESC enhancer starr_26717 Neighboring gene STARR-seq mESC enhancer starr_26718 Neighboring gene STARR-seq mESC enhancer starr_26719 Neighboring gene STARR-seq mESC enhancer starr_26720 Neighboring gene STARR-seq mESC enhancer starr_26721 Neighboring gene STARR-seq mESC enhancer starr_26722 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:55826518-55826701 Neighboring gene UPF0183 protein C16orf70 homolog Neighboring gene MSL3 like 2 Neighboring gene STARR-positive B cell enhancer ABC_E8334 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:55948756-55948865 Neighboring gene STARR-seq mESC enhancer starr_26724 Neighboring gene STARR-seq mESC enhancer starr_26725 Neighboring gene STARR-seq mESC enhancer starr_26726 Neighboring gene STARR-seq mESC enhancer starr_26730 Neighboring gene STARR-seq mESC enhancer starr_26731 Neighboring gene STARR-seq mESC enhancer starr_26732 Neighboring gene ribosomal protein S8, pseudogene 1 Neighboring gene gap junction protein, alpha 1

    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 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. Using genomewide mutagenesis screens to identify the genes required for neural tube closure in the mouse. Zohn IE, et al. Birth Defects Res A Clin Mol Teratol, 2005 Sep. PMID 15971254
    2. Global/temporal gene expression in diaphragm and hindlimb muscles of dystrophin-deficient (mdx) mice. Rouger K, et al. Am J Physiol Cell Physiol, 2002 Sep. PMID 12176734
    3. Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models. Moon KH, et al. Elife, 2020 Dec 31. PMID 33382037, Free PMC Article
    4. Cell Cycle-Related Kinase (CCRK) regulates ciliogenesis and Hedgehog signaling in mice. Snouffer A, et al. PLoS Genet, 2017 Aug. PMID 28817564, Free PMC Article
    5. Genetic link between renal birth defects and congenital heart disease. San Agustin JT, et al. Nat Commun, 2016 Mar 22. PMID 27002738, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dzip1l interacts genetically with Bromi, and both have overlapping functions in ciliogenesis and neural tube patterning.
      Title: Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse.
    2. Bromi, a previously uncharacterized TBC domain-containing protein, is required for proper cellular responses to the highest levels of Shh signaling in the neural tube. (bromi, broad-minded)
      Title: Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (4)  1 citation
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (1)  1 citation

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within axoneme assembly ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cilium assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neural tube development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neural tube patterning IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within retinal pigment epithelium development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smoothened signaling pathway involved in dorsal/ventral neural tube patterning IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein broad-minded

    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_001033385.3 → NP_001028557.2  protein broad-minded

      See identical proteins and their annotated locations for NP_001028557.2

      Status: VALIDATED

      Source sequence(s)
      AC155829, AK035346, AK141206, BP761946, BY341016, CJ182214, CN536044, CN536606, CR756627, CR757357
      Consensus CDS
      CCDS48562.1
      UniProtKB/Swiss-Prot
      Q3URV1
      Related
      ENSMUSP00000097328.4, ENSMUST00000099739.5
      Conserved Domains (1) summary
      pfam14961
      Location:12 → 1293
      BROMI; Broad-minded protein

    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
      55890389..56106495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011243191.4 → XP_011241493.1  protein broad-minded isoform X1

      Conserved Domains (1) summary
      pfam14961
      Location:12 → 1033
      BROMI; Broad-minded protein

    2. XM_011243192.4 → XP_011241494.1  protein broad-minded isoform X2

      Conserved Domains (1) summary
      pfam14961
      Location:12 → 857
      BROMI; Broad-minded protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3URV1.2 GenPept UniProtKB/Swiss-Prot:Q3URV1

    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
    Tools