SMPD4
Sfingomijelin-fosfodiesteraza 4 jest enzim koji je kod ljudi kodiran genom SMPD4 sa hromosoma 2.[5][6]
Amiokiselininska sekvenca
urediDužina polipeptidnog lanca je 827 aminokiselina, a molekulska težina 93.352 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAFPHLQQPS | FLLASLKADS | INKPFAQQCQ | DLVKVIEDFP | AKELHTIFPW | ||||
| LVESIFGSLD | GVLVGWNLRC | LQGRVNPVEY | SIVMEFLDPG | GPMMKLVYKL | ||||
| QAEDYKFDFP | VSYLPGPVKA | SIQECILPDS | PLYHNKVQFT | PTGGLGLNLA | ||||
| LNPFEYYIFF | FALSLITQKP | LPVSLHVRTS | DCAYFILVDR | YLSWFLPTEG | ||||
| SVPPPLSSSP | GGTSPSPPPR | TPAIPFASYG | LHHTSLLKRH | ISHQTSVNAD | ||||
| PASHEIWRSE | TLLQVFVEMW | LHHYSLEMYQ | KMQSPHAKLE | VLHYRLSVSS | ||||
| ALYSPAQPSL | QALHAYQESF | TPTEEHVLVV | RLLLKHLHAF | ANSLKPEQAS | ||||
| PSAHSHATSP | LEEFKRAAVP | RFVQQKLYLF | LQHCFGHWPL | DASFRAVLEM | ||||
| WLSYLQPWRY | APDKQAPGSD | SQPRCVSEKW | APFVQENLLM | YTKLFVGFLN | ||||
| RALRTDLVSP | KHALMVFRVA | KVFAQPNLAE | MIQKGEQLFL | EPELVIPHRQ | ||||
| HRLFTAPTFT | GSFLSPWPPA | VTDASFKVKS | HVYSLEGQDC | KYTPMFGPEA | ||||
| RTLVLRLAQL | ITQAKHTAKS | ISDQCAESPA | GHSFLSWLGF | SSMDTNGSYT | ||||
| ANDLDEMGQD | SVRKTDEYLE | KALEYLRQIF | RLSEAQLRQF | TLALGTTQDE | ||||
| NGKKQLPDCI | VGEDGLILTP | LGRYQIINGL | RRFEIEYQGD | PELQPIRSYE | ||||
| IASLVRTLFR | LSSAINHRFA | GQMAALCSRD | DFLGSFCRYH | LTEPGLASRH | ||||
| LLSPVGRRQV | AGHTRGPRLS | LRFLGSYRTL | VSLLLAFFVA | SLFCVGPLPC | ||||
| TLLLTLGYVL | YASAMTLLTE | RGKLHQP |
Modelni organizmi
urediU proučavanju funkcije gena SMPD4 korišteni su modelni organizmi. Uslovna linij nokaut-miševa pod nazivom Smpd4tm2b(KOMP)Wtsi generirana je na Institutu Welcome Trust Sanger.[8] Muške i ženske životinje su podvrgnute standardizovanom fenotipskom pregledu[9] za određivanje efekata delecija.[10][11][12][13]
| Svojstvo | Fenotip |
|---|---|
| Insulin | Normalan |
| Vijabilnost homozigota na P14 | Nenormalaan |
| Sruduija recesivne letalnotsi | Normalan |
| Plodnost homozigota | Nenormalan |
| Tjelesta težina | Normalan |
| Neurološka procjena | Normalan |
| Snaga stiska | Normalan |
| Dismorfologija | Normalan |
| Indirektna kalorimetrija | Normalan |
| Test tolerancije glukoze | Normalan |
| Slušni odgovor moždanog stabla | Normalan |
| DEXA | Normalan |
| Radiografija | Normalan |
| Morfologija oka | Normalan |
| Klinička hemija | Normalan |
| Hematologija 16 sedmica | Normalan |
| Leukociti periferne krvi 16 sedmica | Normalan |
| Težina srca | Normalan |
| Salmonella infekcija | Normalan |
| Imunofenotipizacija slezene | Normalan |
| Imunofenotipizacija mezenternog lmfnog čvora | Normalan |
| Kompozicija epidermne imunosti | Normalan |
| Iizazov gripe | Normalan |
Reference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000136699 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005899 - 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.
- ^ Krut O, Wiegmann K, Kashkar H, Yazdanpanah B, Krönke M (maj 2006). "Novel tumor necrosis factor-responsive mammalian neutral sphingomyelinase-3 is a C-tail-anchored protein". The Journal of Biological Chemistry. 281 (19): 13784–93. doi:10.1074/jbc.M511306200. PMID 16517606.
- ^ "Entrez Gene: SMPD4 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)".
- ^ "UniProt, Q9NXE4" (jezik: англ.). Pristupljeno 19. 11. 2021.CS1 održavanje: nepoznati jezik (link)
- ^ 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.
- ^ "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.
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- Jana A, Pahan K (Oct 2004). "Human immunodeficiency virus type 1 gp120 induces apoptosis in human primary neurons through redox-regulated activation of neutral sphingomyelinase". The Journal of Neuroscience. 24 (43): 9531–40. doi:10.1523/JNEUROSCI.3085-04.2004. PMC 1955476. PMID 15509740.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
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