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SETD5

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SETD5
Identifikatori
AliasiSETD5
Vanjski ID-jeviOMIM: 615743 MGI: 1920145 HomoloGene: 12485 GeneCards: SETD5
Lokacija gena (čovjek)
Hromosom 3 (čovjek)
Hrom.Hromosom 3 (čovjek)[1]
Hromosom 3 (čovjek)
Genomska lokacija za SETD5
Genomska lokacija za SETD5
Bend3p25.3Početak9,397,615 bp[1]
Kraj9,479,240 bp[1]
Lokacija gena (miš)
Hromosom 6 (miš)
Hrom.Hromosom 6 (miš)[2]
Hromosom 6 (miš)
Genomska lokacija za SETD5
Genomska lokacija za SETD5
Bend6|6 E3Početak113,077,365 bp[2]
Kraj113,153,435 bp[2]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001080517
NM_001292043
NM_018187
NM_001349451

NM_028385
NM_173005

RefSeq (bjelančevina)

NP_001073986
NP_001278972
NP_001336380

NP_082661
NP_766593

Lokacija (UCSC)Chr 3: 9.4 – 9.48 MbChr 6: 113.08 – 113.15 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

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

Aminokiselinska sekvenca

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

1020304050
MSIAIPLGVTTSDTSYSDMAAGSDPESVEASPAVNEKSVYSTHNYGTTQR
HGCRGLPYATIIPRSDLNGLPSPVEERCGDSPNSEGETVPTWCPCGLSQD
GFLLNCDKCRGMSRGKVIRLHRRKQDNISGGDSSATESWDEELSPSTVLY
TATQHTPTSITLTVRRTKPKKRKKSPEKGRAAPKTKKIKNSPSEAQNLDE
NTTEGWENRIRLWTDQYEEAFTNQYSADVQNALEQHLHSSKEFVGKPTIL
DTINKTELACNNTVIGSQMQLQLGRVTRVQKHRKILRAARDLALDTLIIE
YRGKVMLRQQFEVNGHFFKKPYPFVLFYSKFNGVEMCVDARTFGNDARFI
RRSCTPNAEVRHMIADGMIHLCIYAVSAITKDAEVTIAFDYEYSNCNYKV
DCACHKGNRNCPIQKRNPNATELPLLPPPPSLPTIGAETRRRKARRKELE
MEQQNEASEENNDQQSQEVPEKVTVSSDHEEVDNPEEKPEEEKEEVIDDQ
ENLAHSRRTREDRKVEAIMHAFENLEKRKKRRDQPLEQSNSDVEITTTTS
ETPVGEETKTEAPESEVSNSVSNVTIPSTPQSVGVNTRRSSQAGDIAAEK
LVPKPPPAKPSRPRPKSRISRYRTSSAQRLKRQKQANAQQAELSQAALEE
GGSNSLVTPTEAGSLDSSGENRPLTGSDPTVVSITGSHVNRAASKYPKTK
KYLVTEWLNDKAEKQECPVECPLRITTDPTVLATTLNMLPGLIHSPLICT
TPKHYIRFGSPFIPERRRRPLLPDGTFSSCKKRWIKQALEEGMTQTSSVP
QETRTQHLYQSNENSSSSSICKDNADLLSPLKKWKSRYLMEQNVTKLLRP
LSPVTPPPPNSGSKSPQLATPGSSHPGEEECRNGYSLMFSPVTSLTTASR
CNTPLQFELCHRKDLDLAKVGYLDSNTNSCADRPSLLNSGHSDLAPHPSL
GPTSETGFPSRSGDGHQTLVRNSDQAFRTEFNLMYAYSPLNAMPRADGLY
RGSPLVGDRKPLHLDGGYCSPAEGFSSRYEHGLMKDLSRGSLSPGGERAC
EGVPSAPQNPPQRKKVSLLEYRKRKQEAKENSAGGGGDSAQSKSKSAGAG
QGSSNSVSDTGAHGVQGSSARTPSSPHKKFSPSHSSMSHLEAVSPSDSRG
TSSSHCRPQENISSRWMVPTSVERLREGGSIPKVLRSSVRVAQKGEPSPT
WESNITEKDSDPADGEGPETLSSALSKGATVYSPSRYSYQLLQCDSPRTE
SQSLLQQSSSPFRGHPTQSPGYSYRTTALRPGNPPSHGSSESSLSSTSYS
SPAHPVSTDSLAPFTGTPGYFSSQPHSGNSTGSNLPRRSCPSSAASPTLQ
GPSDSPTSDSVSQSSTGTLSSTSFPQNSRSSLPSDLRTISLPSAGQSAVY
QASRVSAVSNSQHYPHRGSGGVHQYRLQPLQGSGVKTQTGLS

Modelni organizmi

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U proučavanju funkcije SETD5 korišteni su modelni organizmi. Uslovna nokaut-mišja linija pod nazivom Setd5tm1a(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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168137 - Ensembl, maj 2017
  2. ^ a b c 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.
  5. ^ "Entrez Gene: SET domain containing 5". Pristupljeno 7. 10. 2013.
  6. ^ "UniProt, Q9C0A6" (jezik: engleski). Pristupljeno 5. 11. 2021.
  7. ^ 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
  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.
  9. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  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.
  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.
  12. ^ Greška kod citiranja: Nevaljana oznaka <ref>; nije naveden tekst za reference s imenom IMPCsearch_ref