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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
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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)

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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_001163847.1NP_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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