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

    Gene ID: 224617, updated on 17-Jul-2021

    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
    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
    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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    Try the new Transcript table

    Genomic context

    See Tbc1d24 in Genome Data Viewer
    Location:
    17; 17 A3.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 17 NC_000083.5 (24312376..24342507, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene amidohydrolase domain containing 2 Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit C Neighboring gene netrin 3 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)
    • Targeted (2) 
    • Endonuclease-mediated (5)  1 citation

    General gene information

    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 
    involved_in dendrite development IBA
    Inferred from Biological aspect of Ancestor
    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 oxidative stress-induced neuron death 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 
    involved_in neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within neuron death in response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron death in response to oxidative stress ISO
    Inferred from Sequence Orthology
    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 
    involved_in synaptic vesicle recycling via endosome IBA
    Inferred from Biological aspect of Ancestor
    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 neuromuscular junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in postsynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in terminal bouton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    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
      Q3UUG6
      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
      Q3UUG6
      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
      Q3UUG6
      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: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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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