TBC1D24

TBC1D24
Identifikatori
Aliasi	TBC1D24
Vanjski ID-jevi	OMIM: 613577 MGI: 2443456 HomoloGene: 27469 GeneCards: TBC1D24
Lokacija gena (čovjek) Hrom. Hromosom 16 (čovjek) Bend 16p13.3 Početak 2,475,051 bp Kraj 2,509,560 bp
Lokacija gena (miš) Hrom. Hromosom 17 (miš) Bend 17|17 A3.3 Početak 24,394,405 bp 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
Vrste	Čovjek	Miš
Entrez	57465	224617
Ensembl	ENSG00000162065	ENSMUSG00000036473
UniProt	Q9ULP9	Q3UUG6
RefSeq (mRNK)	NM_020705 NM_001199107	NM_001163847 NM_001163848 NM_001163849 NM_001163850 NM_001163851 NM_001163852 NM_001163853 NM_173186
RefSeq (bjelančevina)	NP_001186036 NP_065756	NP_001157319 NP_001157320 NP_001157321 NP_001157322 NP_001157323 NP_001157324 NP_001157325 NP_775278
Lokacija (UCSC)	Chr 16: 2.48 – 2.51 Mb	Chr 17: 24.39 – 24.42 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Član 24 domenske porodice TBC1 je protein koji je kod ljudi kodiran genom TBC1D24.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 559 aminokiselina, a molekulska težina 62.919 Da..

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.

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.