ENTPD6

ENTPD6
Identifikatori
Aliasi	ENTPD6
Vanjski ID-jevi	OMIM: 603160 MGI: 1202295 HomoloGene: 68170 GeneCards: ENTPD6
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	25,228,075 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	150,771,675 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• nucleoside-triphosphatase activity; • guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity; • uridine-diphosphatase activity; • hydrolase activity; • nucleoside-diphosphatase activity;
Ćelijska komponenta	• integral component of membrane; • cell surface; • Golđijeva membrana; • ćelijska membrana; • membrana; • extracellular region; • Vanćelijsko; • Golđijev aparat;
Biološki proces	• response to calcium ion; • response to magnesium ion; • nucleobase-containing small molecule catabolic process; • metabolizam;
	Izvori:Amigo / QuickGO
Ortolozi
	955
	12497
	ENSG00000197586
	ENSMUSG00000033068
	O75354; Q5QPI7
	Q3U0P5
NM_001114089; NM_001247; NM_001317941; NM_001322378; NM_001322379;
	NM_001322380; NM_001322381; NM_001322382; NM_001322383; NM_001322384; NM_001322385; NM_001322386; NM_001322387; NM_001322388; NM_001322389; NM_001322390; NM_001322391; NM_001322392; NM_001322393; NM_001322394; NM_001322395; NM_001322396; NM_001322397; NM_001322398
	NM_172117; NM_001355068
NP_001107561; NP_001238; NP_001304870; NP_001309307; NP_001309308;
	NP_001309309; NP_001309310; NP_001309311; NP_001309312; NP_001309313; NP_001309314; NP_001309315; NP_001309316; NP_001309317; NP_001309318; NP_001309319; NP_001309320; NP_001309321; NP_001309322; NP_001309323; NP_001309324; NP_001309325; NP_001309326; NP_001309327
	NP_742115; NP_001341997; NP_001357558; NP_001357559; NP_001357560
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Ektonukleozid-trifosfat difosfohidrolaza 6 je enzim koji je kod ljudi kodiran genom ENTPD6.^[5]^[6]

Funkcija

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

U proučavanju funkcije korišteni su ENTPD6 model organizmi. Uvjetna linija nokaut miša zvana Entpd6^{tm1a(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]

Fenotip *Entpd6* nokaut-miša
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

^ ^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

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000197586 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000033068 - 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.

[pmid9676430-5] 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.

[entrez-6] "Entrez Gene: ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 (putative function)".

[mgp_reference-7] 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.

[IMPCsearch_ref-8] "International Mouse Phenotyping Consortium".

[pmid21677750-9] 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.

[mouse_library-10] Dolgin E (Jun 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 (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.

[pmid23870131-12] 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.

[iii_ref-13] "Infection and Immunity Immunophenotyping (3i) Consortium".^{[mrtav link]}

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