SMPD4

SMPD4
Identifikatori
Aliasi	SMPD4
Vanjski ID-jevi	OMIM: 610457 MGI: 1924876 HomoloGene: 9813 GeneCards: SMPD4
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	130,182,750 bp
Lokacija gena (miš)
Hrom.	Hromosom 16 (miš)
Kraj	17,462,692 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• sphingomyelin phosphodiesterase activity; • hydrolase activity; • vezivanje iona metala; • sphingomyelin phosphodiesterase D activity;
Ćelijska komponenta	• integral component of membrane; • Golđijeva membrana; • trans-Golđijeva mreža; • Golđijev aparat; • endoplasmic reticulum membrane; • Endoplazmatski retikulum; • membrana;
Biološki proces	• ceramide biosynthetic process; • cellular response to tumor necrosis factor; • sphingomyelin catabolic process; • glycosphingolipid metabolic process; • glycerophospholipid catabolic process; • metabolizam;
	Izvori:Amigo / QuickGO
Ortolozi
	55627
	77626
	ENSG00000136699
	ENSMUSG00000005899
	Q9NXE4
	Q6ZPR5
	NM_001171083; NM_001171084; NM_017751; NM_017951
	NM_001164609; NM_001164610; NM_001164611; NM_029945
	NP_001164554; NP_060221; NP_060421; NP_060421.2
	NP_001158081; NP_001158082; NP_001158083; NP_084221
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Sfingomijelin-fosfodiesteraza 4 jest enzim koji je kod ljudi kodiran genom SMPD4 sa hromosoma 2.^[5]^[6]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 827 aminokiselina, a molekulska težina 93.352 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
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

U proučavanju funkcije gena SMPD4 korišteni su modelni organizmi. Uslovna linij nokaut-miševa pod nazivom Smpd4^{tm2b(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]

Fenotip *Smpd4* nokaut-miševa
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

^ ^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.

Dopunska literatutra

Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (Apr 1996). "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish W, Hawkins M, Hultman M, Kucaba T, Lacy M, Le M, Le N, Mardis E, Moore B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra M (Sep 1996). "Generation and analysis of 280,000 human expressed sequence tags". Genome Research. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Apr 1997). "Large-scale concatenation cDNA sequencing". Genome Research. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Feb 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
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.
Lehner B, Sanderson CM (Jul 2004). "A protein interaction framework for human mRNA degradation". Genome Research. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747.
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.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000136699 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000005899 - 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.

[pmid16517606-5] 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-6] "Entrez Gene: SMPD4 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)".

[UniProt-7] "UniProt, Q9NXE4" (jezik: англ.). Pristupljeno 19. 11. 2021.CS1 održavanje: nepoznati jezik (link)

[mgp_reference-8] 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-9] "International Mouse Phenotyping Consortium".

[pmid21677750-10] 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-11] 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-12] 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.

[pmid23870131-13] 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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