TBC1D24

TBC1D24
Identifiers
Aliases	TBC1D24 , DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6, TBC1 domain family member 24, EPRPDC, DEE16
External IDs	OMIM: 613577 MGI: 2443456 HomoloGene: 27469 GeneCards: TBC1D24
Gene location (Human)
Chr.	Chromosome 16 (human)
End	2,509,560 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	24,424,536 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; Brodmann area 23; ; middle temporal gyrus; ; corpus epididymis; ; cerebellar vermis; ; renal medulla; ; superior frontal gyrus; ; entorhinal cortex; ; Brodmann area 46; ; cerebellar hemisphere;
	Top expressed in
	retinal pigment epithelium; ; barrel cortex; ; ciliary body; ; substantia nigra; ; iris; ; prefrontal cortex; ; nucleus accumbens; ; suprachiasmatic nucleus; ; temporal lobe; ; dorsomedial hypothalamic nucleus;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding ; GTPase activator activity ;
Cellular component	cytoplasm ; terminal bouton ; neuromuscular junction ; plasma membrane ; cell junction ; membrane ; cytoplasmic vesicle membrane ; cytoplasmic vesicle ;
Biological process	regulation of cilium assembly ; positive regulation of GTPase activity ; neuron projection development ;
	Sources:Amigo / QuickGO
Orthologs
	57465
	224617
	ENSG00000162065
	ENSMUSG00000036473
	Q9ULP9
	Q3UUG6
	NM_020705 ; NM_001199107
NM_001163847 ; NM_001163848 ; NM_001163849 ; NM_001163850 ; NM_001163851 ;
	NM_001163852 ; NM_001163853 ; NM_173186
	NP_001186036 ; NP_065756
NP_001157319 ; NP_001157320 ; NP_001157321 ; NP_001157322 ; NP_001157323 ;
	NP_001157324 ; NP_001157325 ; NP_775278
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 29, 2022

TBC1 domain family, member 24 is a protein that in humans is encoded by the TBC1D24 gene.^[5]

Function

This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants.

Mutations in TBC1D24 cause Hereditary hearing loss.^[6]

Related Research Articles

Melanophilin is a carrier protein which in humans is encoded by the MLPH gene. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.

Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in all mammals for which complete genome data are available.

Sodium channel protein type 2 subunit alpha , is a protein that in humans is encoded by the SCN2A gene. Functional sodium channels contain an ion conductive alpha subunit and one or more regulatory beta subunits. Sodium channels which contain sodium channel protein type 2 subunit alpha are sometimes called Na_v1.2 channels.

AS160, which was originally known as TBC1 domain family member 4 (TBC1D4), is a Rab GTPase-activating protein that in humans is encoded by the TBC1D4 gene.

EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.

Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene.

TBC1 domain family member 1 is a protein that in humans is encoded by the TBC1D1 gene.

TBC1 domain family member 3E/3F is a protein that in humans is encoded by the TBC1D3F gene.

Rho-related BTB domain-containing protein 2 is a protein that in humans is encoded by the RHOBTB2 gene.

Rab3 GTPase-activating protein non-catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP2 gene.

TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene.

TBC1 domain family member 15 is a protein that in humans is encoded by the TBC1D15 gene.

Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.

ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.

RAB GTPase activating protein 1 is a protein in humans that is encoded by the RABGAP1 gene.

Potassium channel tetramerisation domain containing 7 is a protein in humans that is encoded by the KCTD7 gene. Alternative splicing results in multiple transcript variants.

Seizure threshold 2 homolog is a protein that in humans is encoded by the SZT2 gene.

Solute carrier family 25 member 22 is a protein that in humans is encoded by the SLC25A22 gene. This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Expression of this gene is increased in colorectal tumor cells.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000162065 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036473 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: TBC1 domain family, member 24".
↑ Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ (July 2014). "TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss". Human Mutation. 35 (7): 819–23. doi:10.1002/humu.22557. PMC 4267685 . PMID 24729539.

Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O (October 1999). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Research. 6 (5): 329–36. doi: 10.1093/dnares/6.5.329 . PMID 10574461.
Fukuda M (June 2011). "TBC proteins: GAPs for mammalian small GTPase Rab?". Bioscience Reports. 31 (3): 159–68. doi:10.1042/BSR20100112. PMID 21250943.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J (September 2010). "A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24". American Journal of Human Genetics. 87 (3): 371–5. doi:10.1016/j.ajhg.2010.08.001. PMC 2933342 . PMID 20797691.
Ishibashi K, Kanno E, Itoh T, Fukuda M (January 2009). "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity". Genes to Cells. 14 (1): 41–52. doi: 10.1111/j.1365-2443.2008.01251.x . PMID 19077034. S2CID 26454981.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F (September 2010). "TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy". American Journal of Human Genetics. 87 (3): 365–70. doi:10.1016/j.ajhg.2010.07.020. PMC 2933335 . PMID 20727515.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000162065 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036473 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: TBC1 domain family, member 24".

[6] Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ (July 2014). "TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss". Human Mutation. 35 (7): 819–23. doi:10.1002/humu.22557. PMC 4267685 . PMID 24729539.

[1]

[2]

[3]

[4]

[5]

[6]

TBC1D24

Contents

Function

Related Research Articles

References

Further reading