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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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