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; OMA:TBC1D24 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16p13.3 Start 2,475,051 bp [1] End 2,509,560 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 A3.3 Start 24,394,405 bp [2] End 24,424,536 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 neural layer of retina nucleus accumbens suprachiasmatic nucleus temporal lobe More reference expression data BioGPS 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 Species Human Mouse Entrez 57465 224617 Ensembl ENSG00000162065 ENSMUSG00000036473 UniProt Q9ULP9 Q3UUG6 RefSeq (mRNA) NM_020705 NM_001199107 NM_001163847 NM_001163848 NM_001163849 NM_001163850 NM_001163851 NM_001163852 NM_001163853 NM_173186 RefSeq (protein) NP_001186036 NP_065756 NP_001157319 NP_001157320 NP_001157321 NP_001157322 NP_001157323 NP_001157324 NP_001157325 NP_775278 Location (UCSC) Chr 16: 2.48 – 2.51 Mb Chr 17: 24.39 – 24.42 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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, 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]

References

1. GRCh38: Ensembl release 89: ENSG00000162065 – Ensembl, May 2017
2. 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.
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.

Further reading

• 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.