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    Tbc1d24 TBC1 domain family, member 24 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 287110, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tbc1d24provided by RGD
    Official Full Name
    TBC1 domain family, member 24provided by RGD
    Primary source
    RGD:1306143
    See related
    EnsemblRapid:ENSRNOG00000052204 AllianceGenome:RGD:1306143
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1306143
    Summary
    Involved in positive regulation of dendrite morphogenesis; positive regulation of excitatory postsynaptic potential; and positive regulation of neuron migration. Predicted to be located in several cellular components, including neuromuscular junction; plasma membrane; and terminal bouton. 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, Dec 2024]
    Expression
    Biased expression in Liver (RPKM 67.3), Brain (RPKM 42.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Tbc1d24 in Genome Data Viewer
    Location:
    10q12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (13711930..13740902, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (13205819..13236013, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (13551100..13576739, complement)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene amidohydrolase domain containing 2 Neighboring gene ATPase H+ transporting V0 subunit C Neighboring gene netrin 3 Neighboring gene uncharacterized LOC102551327 Neighboring gene tubulin epsilon and delta complex 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. Poulat AL, et al. Epilepsy Res, 2015 Mar. PMID 25769375
    2. Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. Bakhchane A, et al. PLoS One, 2015. PMID 26371875, Free PMC Article
    3. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Azaiez H, et al. Hum Mutat, 2014 Jul. PMID 24729539, Free PMC Article
    4. TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. Falace A, et al. Proc Natl Acad Sci U S A, 2014 Feb 11. PMID 24469796, Free PMC Article
    5. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Milh M, et al. Hum Mutat, 2013 Jun. PMID 23526554

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    acts_upstream_of_or_within axon development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cellular response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within dendrite development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of cellular response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of peptidyl-cysteine S-nitrosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuron projection development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of dendrite morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of excitatory postsynaptic potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in regulation of cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuromuscular junction ISS
    Inferred from Sequence or Structural Similarity
    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 presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in terminal bouton ISS
    Inferred from Sequence or Structural Similarity
    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_001105769.1 → NP_001099239.1  TBC1 domain family member 24

      See identical proteins and their annotated locations for NP_001099239.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473948
      UniProtKB/TrEMBL
      A6HCQ8, D4A3Z3
      Related
      ENSRNOP00000071746.1, ENSRNOT00000081995.3
      Conserved Domains (2) summary
      smart00584
      Location:336 → 551
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086028.1 Reference GRCr8

      Range
      13711930..13740902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039085350.2 → XP_038941278.1  TBC1 domain family member 24 isoform X2

      UniProtKB/TrEMBL
      A6HCQ8, D4A3Z3
      Conserved Domains (2) summary
      smart00584
      Location:336 → 551
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. XM_039085349.2 → XP_038941277.1  TBC1 domain family member 24 isoform X1

      UniProtKB/TrEMBL
      A0A0G2K5B0
      Related
      ENSRNOP00000073359.1, ENSRNOT00000084066.3
      Conserved Domains (2) summary
      smart00584
      Location:342 → 557
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48 → 253
      RabGAP-TBC; Rab-GTPase-TBC domain

    RNA

    1. XR_010055133.1 RNA Sequence

    2. XR_357445.4 RNA Sequence

    3. XR_010055137.1 RNA Sequence

    4. XR_010055136.1 RNA Sequence

    5. XR_005489713.2 RNA Sequence

    6. XR_010055134.1 RNA Sequence

    7. XR_010055138.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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