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    Tbc1d24 TBC1 domain family, member 24 [ Mus musculus (house mouse) ]

    Gene ID: 224617, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Tbc1d24provided by MGI
    Official Full Name
    TBC1 domain family, member 24provided by MGI
    Primary source
    MGI:MGI:2443456
    See related
    Ensembl:ENSMUSG00000036473 AllianceGenome:MGI:2443456
    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
    mKIAA1171; 9630033P11; C530046L02Rik
    Summary
    Predicted to enable GTPase activator activity. Acts upstream of or within several processes, including negative regulation of oxidative stress-induced neuron death; negative regulation of peptidyl-cysteine S-nitrosylation; and neuron projection development. Predicted to be located in cell junction and cytoplasm. Predicted to be active in neuromuscular junction and plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; olfactory epithelium; retina; and spleen. Used to study developmental and epileptic encephalopathy 16. Human ortholog(s) of this gene implicated in DOORS syndrome; epilepsy (multiple); and nonsyndromic deafness (multiple). Orthologous to human TBC1D24 (TBC1 domain family member 24). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 17.3), whole brain E14.5 (RPKM 14.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tbc1d24 in Genome Data Viewer
    Location:
    17 A3.3; 17 12.3 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (24394405..24424536, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (24175431..24205562, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_42075 Neighboring gene amidohydrolase domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E8658 Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit C Neighboring gene STARR-seq mESC enhancer starr_42079 Neighboring gene netrin 3 Neighboring gene STARR-positive B cell enhancer ABC_E2472 Neighboring gene tubulin epsilon and delta complex 2 Neighboring gene cyclin F Neighboring gene microRNA 5134

    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. The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors. Lin L, et al. PLoS Genet, 2020 Jan. PMID 32004315, Free PMC Article
    2. Gm14230 controls Tbc1d24 cytoophidia and neuronal cellular juvenescence. Morimune T, et al. PLoS One, 2021. PMID 33886577, Free PMC Article
    3. A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. Zhang L, et al. Hum Mutat, 2014 Jul. PMID 24729547
    4. Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. Tona R, et al. Genes (Basel), 2020 Sep 24. PMID 32987832, Free PMC Article
    5. The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. Tona R, et al. Hum Mol Genet, 2019 May 1. PMID 30602030, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gm14230 controls Tbc1d24 cytoophidia and neuronal cellular juvenescence.
      Title: Gm14230 controls Tbc1d24 cytoophidia and neuronal cellular juvenescence.
    2. Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
      Title: Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
    3. F251L knock-in mice, and the homozygous mutants show increased neuronal excitability, spontaneous seizure and pre-mature death.
      Title: The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors.
    4. This is the first characterization of a mouse model of human TBC1D24-associated EIEE that can now be used to screen for antiepileptogenic drugs ameliorating TBCID24 seizure disorders.
      Title: The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
    5. We then further investigated TBC1D24 haploinsufficiency in vivo and demonstrate that TBC1D24 is also crucial for normal presynaptic function: genetic disruption of Tbc1d24 expression in the mouse leads to an impairment of endocytosis and an enlarged endosomal compartment in neurons with a decrease in spontaneous neurotransmission.
      Title: The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
    6. that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear.
      Title: A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
    7. Two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for familial infantile myoclonic epilepsy.
      Title: TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
    8. A pathogenic mutation was identified in TBC1D24.
      Title: A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 
    • Endonuclease-mediated (5)  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 GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within axon development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cellular response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of peptidyl-cysteine S-nitrosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of dendrite morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of excitatory postsynaptic potential ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of neuron migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within synaptic vesicle endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 24

    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_001163847.1 → NP_001157319.1  TBC1 domain family member 24 isoform a

      See identical proteins and their annotated locations for NP_001157319.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2 and 3 encode the same isoform.
      Source sequence(s)
      AC117577, AI661779, AK036088, CT010502
      Consensus CDS
      CCDS50012.1
      UniProtKB/Swiss-Prot
      A5D6Q7, Q3TTZ8, Q3UH11, Q3UUG6, Q6ZPW4, Q8BH92, Q8BNF2, Q8C3C6, Q8C3W8
      Related
      ENSMUSP00000127005.3, ENSMUST00000167791.9
      Conserved Domains (3) summary
      smart00584
      Location:342 → 556
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265 → 358
      DUF499; Protein of unknown function (DUF499)

    2. NM_001163848.1 → NP_001157320.1  TBC1 domain family member 24 isoform a

      See identical proteins and their annotated locations for NP_001157320.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR and lacks a segment of the 3' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AC117577, AI661779, AK147647, CT010502
      Consensus CDS
      CCDS50012.1
      UniProtKB/Swiss-Prot
      A5D6Q7, Q3TTZ8, Q3UH11, Q3UUG6, Q6ZPW4, Q8BH92, Q8BNF2, Q8C3C6, Q8C3W8
      Related
      ENSMUSP00000094989.4, ENSMUST00000097376.10
      Conserved Domains (3) summary
      smart00584
      Location:342 → 556
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265 → 358
      DUF499; Protein of unknown function (DUF499)

    3. NM_001163849.1 → NP_001157321.1  TBC1 domain family member 24 isoform a

      See identical proteins and their annotated locations for NP_001157321.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks a segment of the 3' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same isoform (a).
      Source sequence(s)
      AC117577, AI661779, AK138431, CT010502
      Consensus CDS
      CCDS50012.1
      UniProtKB/Swiss-Prot
      A5D6Q7, Q3TTZ8, Q3UH11, Q3UUG6, Q6ZPW4, Q8BH92, Q8BNF2, Q8C3C6, Q8C3W8
      Related
      ENSMUSP00000143883.2, ENSMUST00000201805.4
      Conserved Domains (3) summary
      smart00584
      Location:342 → 556
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265 → 358
      DUF499; Protein of unknown function (DUF499)

    4. NM_001163850.1 → NP_001157322.1  TBC1 domain family member 24 isoform b

      See identical proteins and their annotated locations for NP_001157322.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. Variants 4-8 encode the same isoform.
      Source sequence(s)
      AC117577, AI661779, AK049754, CT010502
      Consensus CDS
      CCDS28477.1
      UniProtKB/Swiss-Prot
      Q3UUG6
      Related
      ENSMUSP00000128868.3, ENSMUST00000168410.9
      Conserved Domains (3) summary
      smart00584
      Location:336 → 550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265 → 352
      DUF499; Protein of unknown function (DUF499)

    5. NM_001163851.1 → NP_001157323.1  TBC1 domain family member 24 isoform b

      See identical proteins and their annotated locations for NP_001157323.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 5' UTR, lacks an alternate in-frame exon in the central coding region, and lacks a segment of the 3' UTR, compared to variant 1. The resulting isoform (b) is shorter than isoform a. Variants 4-8 encode the same isoform.
      Source sequence(s)
      AC117577, AI661779, AK086293, CT010502
      Consensus CDS
      CCDS28477.1
      UniProtKB/Swiss-Prot
      Q3UUG6
      Related
      ENSMUSP00000144250.2, ENSMUST00000201089.4
      Conserved Domains (3) summary
      smart00584
      Location:336 → 550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265 → 352
      DUF499; Protein of unknown function (DUF499)

    6. NM_001163852.1 → NP_001157324.1  TBC1 domain family member 24 isoform b

      See identical proteins and their annotated locations for NP_001157324.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the presence and absence of exons in the 5' UTR, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a. Variants 4-8 encode the same isoform.
      Source sequence(s)
      AI661779, AK161054, CT010502
      Consensus CDS
      CCDS28477.1
      UniProtKB/Swiss-Prot
      Q3UUG6
      Related
      ENSMUSP00000128001.2, ENSMUST00000171189.8
      Conserved Domains (3) summary
      smart00584
      Location:336 → 550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265 → 352
      DUF499; Protein of unknown function (DUF499)

    7. NM_001163853.1 → NP_001157325.1  TBC1 domain family member 24 isoform b

      See identical proteins and their annotated locations for NP_001157325.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the presence and absence of exons in the 5' UTR, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a. Variants 4-8 encode the same isoform.
      Source sequence(s)
      AI661779, AK049306, CT010502
      Consensus CDS
      CCDS28477.1
      UniProtKB/Swiss-Prot
      Q3UUG6
      Related
      ENSMUSP00000126107.2, ENSMUST00000168378.8
      Conserved Domains (3) summary
      smart00584
      Location:336 → 550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265 → 352
      DUF499; Protein of unknown function (DUF499)

    8. NM_173186.4 → NP_775278.3  TBC1 domain family member 24 isoform b

      See identical proteins and their annotated locations for NP_775278.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a. Variants 4-8 encode the same isoform.
      Source sequence(s)
      AC117577, AI661779, AK084693, CT010502
      Consensus CDS
      CCDS28477.1
      UniProtKB/Swiss-Prot
      Q3UUG6
      Related
      ENSMUSP00000036458.8, ENSMUST00000040474.11
      Conserved Domains (3) summary
      smart00584
      Location:336 → 550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265 → 352
      DUF499; Protein of unknown function (DUF499)

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      24394405..24424536 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UUG6.2 GenPept UniProtKB/Swiss-Prot:Q3UUG6

    Gene LinkOut

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

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