SETD5

SETD5
Identifikatori
Aliasi	SETD5
Vanjski ID-jevi	OMIM: 615743 MGI: 1920145 HomoloGene: 12485 GeneCards: SETD5
Lokacija gena (čovjek)
Hrom.	Hromosom 3 (čovjek)
Kraj	9,479,240 bp
Lokacija gena (miš)
Hrom.	Hromosom 6 (miš)
Kraj	113,153,435 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • histone methyltransferase activity (H3-K9 specific); • GO:0102674, GO:0102675 methyltransferase activity; • aktivnost sa transferazom; • histone-lysine N-methyltransferase activity;
Ćelijska komponenta	• jedro; • Cdc73/Paf1 complex; • nukleoplazma;
Biološki proces	• regulation of histone acetylation; • GO:1903308, GO:0001672, GO:0010848, GO:1902649 regulation of chromatin organization; • transcription, DNA-templated; • GO:0009373 regulation of transcription, DNA-templated; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization; • histone H3-K9 methylation; • Metilacija; • histone lysine methylation;
	Izvori:Amigo / QuickGO
Ortolozi
	55209
	72895
	ENSG00000168137
	ENSMUSG00000034269
	Q9C0A6
	Q5XJV7
	NM_001080517; NM_001292043; NM_018187; NM_001349451
	NM_028385; NM_173005
	NP_001073986; NP_001278972; NP_001336380
	NP_082661; NP_766593
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein 5 sa SET domenom jest protein koji je kod ljudi kodiran genom SETD5 sa hromosoma 3.^[5]

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 1.442 aminokiseline, а molekulska težina 157.515 Da.^[6]

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
MSIAIPLGVT	TSDTSYSDMA	AGSDPESVEA	SPAVNEKSVY	STHNYGTTQR
HGCRGLPYAT	IIPRSDLNGL	PSPVEERCGD	SPNSEGETVP	TWCPCGLSQD
GFLLNCDKCR	GMSRGKVIRL	HRRKQDNISG	GDSSATESWD	EELSPSTVLY
TATQHTPTSI	TLTVRRTKPK	KRKKSPEKGR	AAPKTKKIKN	SPSEAQNLDE
NTTEGWENRI	RLWTDQYEEA	FTNQYSADVQ	NALEQHLHSS	KEFVGKPTIL
DTINKTELAC	NNTVIGSQMQ	LQLGRVTRVQ	KHRKILRAAR	DLALDTLIIE
YRGKVMLRQQ	FEVNGHFFKK	PYPFVLFYSK	FNGVEMCVDA	RTFGNDARFI
RRSCTPNAEV	RHMIADGMIH	LCIYAVSAIT	KDAEVTIAFD	YEYSNCNYKV
DCACHKGNRN	CPIQKRNPNA	TELPLLPPPP	SLPTIGAETR	RRKARRKELE
MEQQNEASEE	NNDQQSQEVP	EKVTVSSDHE	EVDNPEEKPE	EEKEEVIDDQ
ENLAHSRRTR	EDRKVEAIMH	AFENLEKRKK	RRDQPLEQSN	SDVEITTTTS
ETPVGEETKT	EAPESEVSNS	VSNVTIPSTP	QSVGVNTRRS	SQAGDIAAEK
LVPKPPPAKP	SRPRPKSRIS	RYRTSSAQRL	KRQKQANAQQ	AELSQAALEE
GGSNSLVTPT	EAGSLDSSGE	NRPLTGSDPT	VVSITGSHVN	RAASKYPKTK
KYLVTEWLND	KAEKQECPVE	CPLRITTDPT	VLATTLNMLP	GLIHSPLICT
TPKHYIRFGS	PFIPERRRRP	LLPDGTFSSC	KKRWIKQALE	EGMTQTSSVP
QETRTQHLYQ	SNENSSSSSI	CKDNADLLSP	LKKWKSRYLM	EQNVTKLLRP
LSPVTPPPPN	SGSKSPQLAT	PGSSHPGEEE	CRNGYSLMFS	PVTSLTTASR
CNTPLQFELC	HRKDLDLAKV	GYLDSNTNSC	ADRPSLLNSG	HSDLAPHPSL
GPTSETGFPS	RSGDGHQTLV	RNSDQAFRTE	FNLMYAYSPL	NAMPRADGLY
RGSPLVGDRK	PLHLDGGYCS	PAEGFSSRYE	HGLMKDLSRG	SLSPGGERAC
EGVPSAPQNP	PQRKKVSLLE	YRKRKQEAKE	NSAGGGGDSA	QSKSKSAGAG
QGSSNSVSDT	GAHGVQGSSA	RTPSSPHKKF	SPSHSSMSHL	EAVSPSDSRG
TSSSHCRPQE	NISSRWMVPT	SVERLREGGS	IPKVLRSSVR	VAQKGEPSPT
WESNITEKDS	DPADGEGPET	LSSALSKGAT	VYSPSRYSYQ	LLQCDSPRTE
SQSLLQQSSS	PFRGHPTQSP	GYSYRTTALR	PGNPPSHGSS	ESSLSSTSYS
SPAHPVSTDS	LAPFTGTPGY	FSSQPHSGNS	TGSNLPRRSC	PSSAASPTLQ
GPSDSPTSDS	VSQSSTGTLS	STSFPQNSRS	SLPSDLRTIS	LPSAGQSAVY
QASRVSAVSN	SQHYPHRGSG	GVHQYRLQPL	QGSGVKTQTG	LS

Modelni organizmi uredi

U proučavanju funkcije SETD5 korišteni su modelni organizmi. Uslovna nokaut-mišja linija pod nazivom Setd5^{tm1a(EUCOMM)Wtsi} generirana je u Institutu Wellcome Trust Sanger.^[7] Mužjaci i ženke su uključeni su u standardizirani fenotipski pregled^[7] za određivanje efekata delecija.^[8]^[9]^[10]^[11]

Fenotip *Setd5* nokaut-miševa
Svojstvo	Fenotip
Svi podaci raspoloživi su na linkovima:^[7]^[12]
Insulin	Normalan
Vijabilnost homozigota na P14	Nenormalan
Studija recesivne letalnosti	Nenormalan
Opći izgled	Nenormalan
Tjelesna težina	Nenormalan
Neurološka procjena	Normalan
Snaga stiska	Normalan
Dismorfologija	Nenormalan
Indirektna kalorimetrija	Normalan
Test tolerancije glukoze	Normalan
Slušni odgovor moždanog stabla	Normalan
DEXA	Normalan
Radiografija	Nenormalan
Morfologija očiju	Normalan
Klinička hemija	Normalan
Hematologija 16 sedmica	Normalan
Leukociti periferne krvi 16 sedmica	Nenormalan
Mikronukleus test	Nenormalan
Težina srca	Normalan
Imunofenotipizacija slezene	Normalan
Imunofenotipizacija mezenternog limfnog čvora	Normalan
Imunofenotipizacija koštane srži	Normalan
Kompozicija epidermne imunosti	Normalan

Reference uredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168137 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034269 - 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.
^ "Entrez Gene: SET domain containing 5". Pristupljeno 7. 10. 2013.
^ "UniProt, Q9C0A6" (jezik: engleski). Pristupljeno 5. 11. 2021.
^ ^a ^b ^c 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. Greška kod citiranja: Neispravna oznaka <ref>; naziv "iii_ref" definiran je nekoliko puta s različitim sadržajem
^ 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.
^ Greška kod citiranja: Nevaljana oznaka <ref>; nije naveden tekst za reference s imenom IMPCsearch_ref

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000168137 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034269 - 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.

[entrez-5] "Entrez Gene: SET domain containing 5". Pristupljeno 7. 10. 2013.

[UniProt-6] "UniProt, Q9C0A6" (jezik: engleski). Pristupljeno 5. 11. 2021.

[iii_ref-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. Greška kod citiranja: Neispravna oznaka <ref>; naziv "iii_ref" definiran je nekoliko puta s različitim sadržajem

[pmid21677750-8] 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-9] 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-10] 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.

[pmid23870131-11] 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.

[IMPCsearch_ref-12] Greška kod citiranja: Nevaljana oznaka <ref>; nije naveden tekst za reference s imenom IMPCsearch_ref

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