ENTPD6
Ektonukleozid-trifosfat difosfohidrolaza 6 je enzim koji je kod ljudi kodiran genom ENTPD6.[5][6]
Funkcija[uredi | uredi izvor]
ENTPD6 je sličan nukleotidazama E-tipa (NTPaze). NTPaze, poput CD39, posreduju u katabolizmu vanćelijskih nukleotida. ENTPD6 sadrži četiri konzervirane regije apiraze, što je karakteristično za NTPaze.[6]
Model organizmi[uredi | uredi izvor]
U proučavanju funkcije korišteni su ENTPD6 model organizmi. Uvjetna linija nokaut miša zvana Entpd6tm1a(KOMP) Wtsi generirana je u Wellcome Trust Sanger Institute.[7] Muške i ženske životinje prošle su standardizirani fenotipski pregled[8] za određivanje efekata delecije.[9][10][11][12] Izvršeni dodatni pregledi: Dubinsko imunsko fenotipiziranje [13]
| Svojstvo | Fenotip |
|---|---|
| Svi raspoloživi podaci su prema[8][13] | |
| Insulin | Normalan |
| Vijabilnost homozigota na P14 | Normalna |
| Plodnost homozigota | Normalna |
| Tjelesna težina | Normalna |
| Neurološka procjena | Normalna |
| Snaga stiska | Normalna |
| Dismorfologija | Normalna |
| Indirektna kalorimetrija | Normalna |
| Test tolerancije glukoze | Normalan |
| Slušni odgovor moždanog debla | Normalan |
| DEXA | Normalna |
| Radiografija | Normalna |
| Morfologija oka | Normalna |
| Klinička hemija | Normalna |
| Hematologija, 16 sedmica | Normalna |
| Leukociti periferne krvi, 16 sedmica | Normalni |
| Salmonella infekcija | Normalna |
Reference[uredi | uredi izvor]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000197586 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033068 - 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.
- ^ Chadwick BP, Frischauf AM (Jun 1998). "The CD39-like gene family: identification of three new human members (CD39L2, CD39L3, and CD39L4), their murine homologues, and a member of the gene family from Drosophila melanogaster". Genomics. 50 (3): 357–67. doi:10.1006/geno.1998.5317. PMID 9676430.
- ^ a b "Entrez Gene: ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 (putative function)".
- ^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
- ^ a b "International Mouse Phenotyping Consortium".
- ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
- ^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
- ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium".[mrtav link]
Dopunska literatura[uredi | uredi izvor]
- Chadwick BP, Frischauf AM (Sep 1997). "Cloning and mapping of a human and mouse gene with homology to ecto-ATPase genes". Mammalian Genome. 8 (9): 668–72. doi:10.1007/s003359900534. PMID 9271669. S2CID 42644202.
- Hicks-Berger CA, Chadwick BP, Frischauf AM, Kirley TL (Nov 2000). "Expression and characterization of soluble and membrane-bound human nucleoside triphosphate diphosphohydrolase 6 (CD39L2)". The Journal of Biological Chemistry. 275 (44): 34041–5. doi:10.1074/jbc.M004723200. PMID 10948193.
- Yeung G, Mulero JJ, McGowan DW, Bajwa SS, Ford JE (Oct 2000). "CD39L2, a gene encoding a human nucleoside diphosphatase, predominantly expressed in the heart". Biochemistry. 39 (42): 12916–23. doi:10.1021/bi000959z. PMID 11041856.
- Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Ivanenkov VV, Murphy-Piedmonte DM, Kirley TL (Oct 2003). "Bacterial expression, characterization, and disulfide bond determination of soluble human NTPDase6 (CD39L2) nucleotidase: implications for structure and function". Biochemistry. 42 (40): 11726–35. doi:10.1021/bi035137r. PMID 14529283.
- Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (Oct 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T (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 Research. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (Jan 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
- Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (maj 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.