TBC1D10A

TBC1D10A
Identifikatori
Aliasi	TBC1D10A
Vanjski ID-jevi	OMIM: 610020 MGI: 2144164 HomoloGene: 32762 GeneCards: TBC1D10A
Lokacija gena (čovjek)
Hrom.	Hromosom 22 (čovjek)
Kraj	30,326,947 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	4,165,505 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• PDZ domain binding; • GO:0001948, GO:0016582 vezivanje za proteine; • guanyl-nucleotide exchange factor activity; • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity; • cadherin binding;
Ćelijska komponenta	• microvillus; • ćelijska membrana; • projekcija ćelije; • Egzosom; • Endomembranski sistem; • citosol; • intracellular anatomical structure;
Biološki proces	• regulation of cilium assembly; • activation of cysteine-type endopeptidase activity; • retrograde transport, endosome to Golgi; • positive regulation of proteolysis; • GO:0032861, GO:0032862, GO:0032856 activation of GTPase activity; • regulation of vesicle fusion; • intracellular protein transport;
	Izvori:Amigo / QuickGO
Ortolozi
	83874
	103724
	ENSG00000099992
	ENSMUSG00000034412
	Q9BXI6
	P58802
	NM_031937; NM_001204240
	NM_134023
	NP_001191169; NP_114143; NP_001191169.1; NP_114143.1
	NP_598784
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Član 10A domenske porodice TBC1 jest protein koji je kod ljudi kodiran genom TBC1D10A sa hromosoma 22.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 508 aminokiseline, a molekulska težina 57.118 Da.^[6]

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

10	20	30	40	50
MAKSNGENGP	RAPAAGESLS	GTRESLAQGP	DAATTDELSS	LGSDSEANGF
AERRIDKFGF	IVGSQGAEGA	LEEVPLEVLR	QRESKWLDML	NNWDKWMAKK
HKKIRLRCQK	GIPPSLRGRA	WQYLSGGKVK	LQQNPGKFDE	LDMSPGDPKW
LDVIERDLHR	QFPFHEMFVS	RGGHGQQDLF	RVLKAYTLYR	PEEGYCQAQA
PIAAVLLMHM	PAEQAFWCLV	QICEKYLPGY	YSEKLEAIQL	DGEILFSLLQ
KVSPVAHKHL	SRQKIDPLLY	MTEWFMCAFS	RTLPWSSVLR	VWDMFFCEGV
KIIFRVGLVL	LKHALGSPEK	VKACQGQYET	IERLRSLSPK	IMQEAFLVQE
VVELPVTERQ	IEREHLIQLR	RWQETRGELQ	CRSPPRLHGA	KAILDAEPGP
RPALQPSPSI	RLPLDAPLPG	SKAKPKPPKQ	AQKEQRKQMK	GRGQLEKPPA
PNQAMVVAAA	GDACPPQHVP	PKDSAPKDSA	PQDLAPQVSA	HHRSQESLTS
QESEDTYL

Modelni organizmi

U proučavanju funkcija TBC1D10A korišteni su i [[modelni organizmi]. Uvjetna []nokaut-miš]]ja linija, zvana Tbc1d10a^{tm2a(EUCOMM)Wtsi}^[7]^[8] generirana je kao dio progranaMeđunarodnog komzorcija za nokaut-miševe — projekta mutageneze velike propusnosti, za generiranje i distribuciju životinjskih modela bolesti zainteresovanim naučnicima — u Institutu Wellcome Trust Sanger.^[9]^[10]^[11]

Fenotip *Tbc1d10a* nokaut-miševa
Svojstvo	Fenotip
Vijabilnost homozigota	Normalan
Plodnost	Normalan
Tjelesna težina	Normalan
Anksioznost otvorenog polja	Normalan
Neurološka procjena	Normalan
Snaga stiska	Normalan
Test vruće ploče	Normalan
Dismorfologija	Normalan
Indirektna kalorimetrija	Normalan
Test tolerancije glukoze	Normalan
Slušni odgovor moždanog stabla	Normalan
DEXA	Normalan
Radiografija	Normalan
Tjelesna temperatura	Normalan
Morfologija oka	Normalan
Klinička hemija	Nenormalan^[12]
Hematologija	Normalan
Limfociti periferne krvi	Normalan
Težina srca	Normalan
Cjelovitost repne epiderme	Normalan
Histopatologija mozga	Normalan
Salmonella infekcija	Normalan^[13]
Citrobacter infekcija	Normalan^[14]
Svi testovi i analize bili su prema ovim izvorima:^[15]^[16]

Mužjaci i ženke podvrgnuti su standardiziranom fenotipskom pregledu kako bi se utvrdili efekti delecija gena.^[15]^[17]

Obavljena su 23 testa i prijavljen je jedan značajno nenormalan fenotip. Homozigotni mutantni odrasli mužjaci imali su abnormalne nalazr kliničke hemije, uključujući smanjene razine LDL-holesterola, alanin transaminaza i alkalne fosfataze.^[15]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000099992 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034412 - 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.
^ Reczek D, Bretscher A (Apr 2001). "Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP". J Cell Biol. 153 (1): 191–206. doi:10.1083/jcb.153.1.191. PMC 2185518. PMID 11285285.
^ ^a ^b "Entrez Gene: TBC1D10A TBC1 domain family, member 10A".
^ "International Knockout Mouse Consortium".
^ "Mouse Genome Informatics".
^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ "Clinical chemistry data for Tbc1d10a". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Tbc1d10a". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Tbc1d10a". Wellcome Trust Sanger Institute.
^ ^a ^b ^c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Dopunska literatura

Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
Cheng J, Kapranov P, Drenkow J, et al. (2005). "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725): 1149–54. Bibcode:2005Sci...308.1149C. doi:10.1126/science.1108625. PMID 15790807. S2CID 13047538.
Kapranov P, Drenkow J, Cheng J, et al. (2005). "Examples of the complex architecture of the human transcriptome revealed by RACE and high-density tiling arrays". Genome Res. 15 (7): 987–97. doi:10.1101/gr.3455305. PMC 1172043. PMID 15998911.
Itoh T, Fukuda M (2006). "Identification of EPI64 as a GTPase-activating protein specific for Rab27A". J. Biol. Chem. 281 (42): 31823–31. doi:10.1074/jbc.M603808200. PMID 16923811.
Hanono A, Garbett D, Reczek D, et al. (2007). "EPI64 regulates microvillar subdomains and structure". J. Cell Biol. 175 (5): 803–13. doi:10.1083/jcb.200604046. PMC 2064679. PMID 17145964.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000099992 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034412 - 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.

[pmid11285285-5] Reczek D, Bretscher A (Apr 2001). "Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP". J Cell Biol. 153 (1): 191–206. doi:10.1083/jcb.153.1.191. PMC 2185518. PMID 11285285.

[entrez-6] "Entrez Gene: TBC1D10A TBC1 domain family, member 10A".

[allele_ref-7] "International Knockout Mouse Consortium".

[mgi_allele_ref-8] "Mouse Genome Informatics".

[pmid21677750-9] Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.

[mouse_library-10] Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-11] Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.

[Clinical_chemistry-12] "Clinical chemistry data for Tbc1d10a". Wellcome Trust Sanger Institute.

[''Salmonella''_infection-13] "Salmonella infection data for Tbc1d10a". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-14] "Citrobacter infection data for Tbc1d10a". Wellcome Trust Sanger Institute.

[mgp_reference-15] Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.

[16] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[pmid21722353-17] van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

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