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

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, Nov 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 17.3), whole brain E14.5 (RPKM 14.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea.
Title: TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea.
Gm14230 controls Tbc1d24 cytoophidia and neuronal cellular juvenescence.
Title: Gm14230 controls Tbc1d24 cytoophidia and neuronal cellular juvenescence.
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Title: Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
F251L knock-in mice, and the homozygous mutants show increased neuronal excitability, spontaneous seizure and pre-mature death.
Title: The epilepsy and intellectual disability-associated protein TBC1D24 regulates the maintenance of excitatory synapses and animal behaviors.
This is the first characterization of a mouse model of human TBC1D24-associated EIEE that can now be used to screen for antiepileptogenic drugs ameliorating TBCID24 seizure disorders.
Title: The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
We then further investigated TBC1D24 haploinsufficiency in vivo and demonstrate that TBC1D24 is also crucial for normal presynaptic function: genetic disruption of Tbc1d24 expression in the mouse leads to an impairment of endocytosis and an enlarged endosomal compartment in neurons with a decrease in spontaneous neurotransmission.
Title: The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear.
Title: A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
Two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for familial infantile myoclonic epilepsy.
Title: TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
A pathogenic mutation was identified in TBC1D24.
Title: A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237582

NoName (e-PCR)
- UniSTS:237591

09.MMHAP35FRC9.seq (e-PCR)
- UniSTS:160625

AI504002 (e-PCR)
- UniSTS:180974

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
acts_upstream_of_or_within cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to oxidative stress	ISO Inferred from Sequence Orthology 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 cellular response to oxidative stress	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
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	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of excitatory postsynaptic potential	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron migration	IEA Inferred from Electronic Annotation 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

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 cytoplasmic vesicle membrane	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	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology 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)

NM_001163847.1 → NP_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:342 → 556

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

cl19819
Location:265 → 358

DUF499; Protein of unknown function (DUF499)
NM_001163848.1 → NP_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:342 → 556

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

cl19819
Location:265 → 358

DUF499; Protein of unknown function (DUF499)
NM_001163849.1 → NP_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:342 → 556

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

cl19819
Location:265 → 358

DUF499; Protein of unknown function (DUF499)
NM_001163850.1 → NP_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:336 → 550

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

cl19819
Location:265 → 352

DUF499; Protein of unknown function (DUF499)
NM_001163851.1 → NP_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:336 → 550

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

cl19819
Location:265 → 352

DUF499; Protein of unknown function (DUF499)
NM_001163852.1 → NP_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:336 → 550

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

cl19819
Location:265 → 352

DUF499; Protein of unknown function (DUF499)
NM_001163853.1 → NP_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:336 → 550

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

cl19819
Location:265 → 352

DUF499; Protein of unknown function (DUF499)
NM_173186.4 → NP_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:336 → 550

TLDc; domain in TBC and LysM domain containing proteins

pfam00566
Location:48 → 253

RabGAP-TBC; Rab-GTPase-TBC domain

cl19819
Location:265 → 352

DUF499; Protein of unknown function (DUF499)