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

    Gene ID: 224617, updated on 9-Dec-2024

    Summary

    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 cellular response to oxidative stress; negative regulation of peptidyl-cysteine S-nitrosylation; and neuron projection development. Predicted to be located in cytoplasm; neuromuscular junction; and terminal bouton. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; male reproductive gland or organ; 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, Dec 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 17.3), whole brain E14.5 (RPKM 14.4) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5)  1 citation
    • Targeted (2) 

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within axon development PubMed 
    acts_upstream_of_or_within cellular response to oxidative stress PubMed 
    acts_upstream_of_or_within cellular response to oxidative stress PubMed 
    acts_upstream_of_or_within dendrite development PubMed 
    acts_upstream_of_or_within negative regulation of cellular response to oxidative stress PubMed 
    acts_upstream_of_or_within negative regulation of peptidyl-cysteine S-nitrosylation PubMed 
    acts_upstream_of_or_within neuron projection development PubMed 
    acts_upstream_of_or_within neuron projection development PubMed 
    involved_in neuron projection development  
    involved_in positive regulation of dendrite morphogenesis  
    involved_in positive regulation of dendrite morphogenesis  
    involved_in positive regulation of excitatory postsynaptic potential  
    involved_in positive regulation of excitatory postsynaptic potential  
    involved_in positive regulation of neuron migration  
    involved_in positive regulation of neuron migration  
    acts_upstream_of_or_within synaptic vesicle endocytosis PubMed 
    Component Evidence Code Pubs
    located_in cell junction  
    located_in cytoplasm  
    located_in cytoplasmic vesicle membrane  
    located_in neuromuscular junction  
    is_active_in plasma membrane  
    located_in plasma membrane  
    located_in plasma membrane  
    located_in terminal bouton  

    General protein information

    Preferred Names
    TBC1 domain family member 24

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001163847.1NP_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:342556
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265358
      DUF499; Protein of unknown function (DUF499)
    2. NM_001163848.1NP_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:342556
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265358
      DUF499; Protein of unknown function (DUF499)
    3. NM_001163849.1NP_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:342556
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265358
      DUF499; Protein of unknown function (DUF499)
    4. NM_001163850.1NP_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:336550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265352
      DUF499; Protein of unknown function (DUF499)
    5. NM_001163851.1NP_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:336550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265352
      DUF499; Protein of unknown function (DUF499)
    6. NM_001163852.1NP_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:336550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265352
      DUF499; Protein of unknown function (DUF499)
    7. NM_001163853.1NP_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:336550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265352
      DUF499; Protein of unknown function (DUF499)
    8. NM_173186.4NP_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:336550
      TLDc; domain in TBC and LysM domain containing proteins
      pfam00566
      Location:48253
      RabGAP-TBC; Rab-GTPase-TBC domain
      cl19819
      Location:265352
      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)
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