SLC35F6

SLC35F6
Identifikatori
Aliasi	SLC35F6
Vanjski ID-jevi	MGI: 1922169 HomoloGene: 9896 GeneCards: SLC35F6
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	26,781,231 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	30,817,073 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • GO:0022891 transmembrane transporter activity;
Ćelijska komponenta	• integral component of membrane; • lysosomal membrane; • Lizozom; • Egzosom; • membrana; • mitohondrija; • nukleoplazma; • citosol; • intracellular membrane-bounded organelle;
Biološki proces	• negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; • positive regulation of cell population proliferation; • GO:0015915 transport; • transmembrane transport;
	Izvori:Amigo / QuickGO
Ortolozi
	54978
	74919
	ENSG00000213699
	ENSMUSG00000029175
	Q8N357
	Q8VE96
	NM_017877
	NM_175675
	NP_060347
	NP_783606
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

SLC35F6 jest protein koji je kod ljudi kodiran genom SLC35F6 sa hromosoma2.^[5]^[6] Ortolog kod miševa je 4930471M23Rik.^[6]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 371 aminokiselina, a molkekulska iežina 40.214 Da^[7]

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
MAWTKYQLFL	AGLMLVTGSI	NTLSAKWADN	FMAEGCGGSK	EHSFQHPFLQ
AVGMFLGEFS	CLAAFYLLRC	RAAGQSDSSV	DPQQPFNPLL	FLPPALCDMT
GTSLMYVALN	MTSASSFQML	RGAVIIFTGL	FSVAFLGRRL	VLSQWLGILA
TIAGLVVVGL	ADLLSKHDSQ	HKLSEVITGD	LLIIMAQIIV	AIQMVLEEKF
VYKHNVHPLR	AVGTEGLFGF	VILSLLLVPM	YYIPAGSFSG	NPRGTLEDAL
DAFCQVGQQP	LIAVALLGNI	SSIAFFNFAG	ISVTKELSAT	TRMVLDSLRT
VVIWALSLAL	GWEAFHALQI	LGFLILLIGT	ALYNGLHRPL	LGRLSRGRPL
AEESEQERLL	GGTRTPINDA	S

Modelni organizmi

Fenotip *4930471M23Rik* 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	Normalan
Hematologija	Normalan
Limfociti periferne krvi	Normalan
Mikronukleus test	Normalan
Težina srca	Normalan
Salmonella infekcija	Normalan^[8]
Citrobacter infekcija	Normalan^[9]
Svi testovi i analize su prema ^[10]^[11]

U proučavanju funkcije C2orf18 korišteni su modelni organizmi. Uslovna linija nokaut-miševa, tzv 4930471M23Rik^{tm1a(EUCOMM)Wtsi}^[12]^[13] generirana je kao dio programa IKMC — širokopropusnog projekta za generiranje i distribuciju modela životinjskih bolesti zainteresiranim naučnicima — na Institutu Wellcome Trust Sanger.^[14]^[15]^[16]

Mužjaci i ženke uključivani su u standardizirani fenotipski pregled za određivanje efekata delecije.^[10]^[17] Obavljena su 22 testa na mutantnim miševima, ali nisu uočene značajne abnormalnosti.^[10]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000213699 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029175 - 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.
^ Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (Oct 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
^ ^a ^b "Entrez Gene: C2orf18 chromosome 2 open reading frame 18".
^ "UniProt, Q8N357" (jezik: engleski). Pristupljeno 11. 11. 2021.
^ "Salmonella infection data for 4930471M23Rik". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for 4930471M23Rik". 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.
^ "International Knockout Mouse Consortium".^{[mrtav link]}
^ "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 (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (januar 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ 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.

Vanjski linkovi

Lokacija ljudskog genoma SLC35F6 i stranica sa detaljima o genu SLC35F6 u UCSC Genome Browseru.

Dopunska literatura

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
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. Bibcode:2002PNAS...9916899M. 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.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000213699 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029175 - 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.

[pmid12975309-5] Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (Oct 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.

[entrez-6] "Entrez Gene: C2orf18 chromosome 2 open reading frame 18".

[UniProt-7] "UniProt, Q8N357" (jezik: engleski). Pristupljeno 11. 11. 2021.

[''Salmonella''_infection-8] "Salmonella infection data for 4930471M23Rik". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-9] "Citrobacter infection data for 4930471M23Rik". Wellcome Trust Sanger Institute.

[mgp_reference-10] 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.

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

[allele_ref-12] "International Knockout Mouse Consortium".^{[mrtav link]}

[mgi_allele_ref-13] "Mouse Genome Informatics".

[pmid21677750-14] 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-15] Dolgin E (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-16] Collins FS, Rossant J, Wurst W (januar 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.

[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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