TBC1D24

TBC1D24
Identifikatori
Aliasi	TBC1D24
Vanjski ID-jevi	OMIM: 613577 MGI: 2443456 HomoloGene: 27469 GeneCards: TBC1D24
Lokacija gena (čovjek)
Hrom.	Hromosom 16 (čovjek)
Kraj	2,509,560 bp
Lokacija gena (miš)
Hrom.	Hromosom 17 (miš)
Kraj	24,424,536 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity;
Ćelijska komponenta	• citoplazma; • terminal bouton; • Nervno-mišićna veza; • ćelijska membrana; • međućelijske veze; • membrana; • cytoplasmic vesicle membrane; • GO:0016023 citoplazmatska vezikula;
Biološki proces	• regulation of cilium assembly; • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity; • neuron projection development;
	Izvori:Amigo / QuickGO
Ortolozi
	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
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Član 24 domenske porodice TBC1 je protein koji je kod ljudi kodiran genom TBC1D24.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 559 aminokiselina, a molekulska težina 62.919 Da.^[6].

10	20	30	40	50
MDSPGYNCFV	DKDKMDAAIQ	DLGPKELSCT	ELQELKQLAR	QGYWAQSHAL
RGKVYQRLIR	DIPCRTVTPD	ASVYSDIVGK	IVGKHSSSCL	PLPEFVDNTQ
VPSYCLNARG	EGAVRKILLC	LANQFPDISF	CPALPAVVAL	LLHYSIDEAE
CFEKACRILA	CNDPGRRLID	QSFLAFESSC	MTFGDLVNKY	CQAAHKLMVA
VSEDVLQVYA	DWQRWLFGEL	PLCYFARVFD	VFLVEGYKVL	YRVALAILKF
FHKVRAGQPL	ESDSVKQDIR	TFVRDIAKTV	SPEKLLEKAF	AIRLFSRKEI
QLLQMANEKA	LKQKGITVKQ	KSVSLSKRQF	VHLAVHAENF	RSEIVSVREM
RDIWSWVPER	FALCQPLLLF	SSLQHGYSLA	RFYFQCEGHE	PTLLLIKTTQ
KEVCGAYLST	DWSERNKFGG	KLGFFGTGEC	FVFRLQPEVQ	RYEWVVIKHP
ELTKPPPLMA	AEPTAPLSHS	ASSDPADRLS	PFLAARHFNL	PSKTESMFMA
GGSDCLIVGG	GGGQALYIDG	DLNRGRTSHC	DTFNNQPLCS	ENFLIAAVEA
WGFQDPDTQ

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Funkcija

Ovaj gen kodira protein sa konzerviranim domenom, koji se naziva TBC domenom, karakterističnim za proteine koji stupaju u interakciju sa GTPazama. Proteini TBC domena mogu poslužiti kao proteini koji aktiviraju GTPaze za određenu skupinu GTPaza, Rab (proteini povezani s Rasom u mozgu) male GTPaze koje su kod ljudi uključene u regulaciju membranski promet. Mutacije u ovom genu povezane su s porodičnom dječijom mioklonskom epilepsijom. Alternativna prerada rezultira u više varijanti transkripta.

Mutacije u TBC1D24 uzrokuju nasljedni gubitak sluha.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162065 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036473 - Ensembl, maj 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".
^ "UniProt, Q9ULP9". Pristupljeno 9. 7. 2021.
^ Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ (juli 2014). "TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss". Human Mutation. 35 (7): 819–23. doi:10.1002/humu.22557. PMC 4267685. PMID 24729539.

Dopunska literatura

Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O (oktobar 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 (juni 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 (septembar 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 (januar 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 (septembar 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162065 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036473 - Ensembl, maj 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".

[UniProt-6] "UniProt, Q9ULP9". Pristupljeno 9. 7. 2021.

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

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