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EVI5

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EVI5
Identifikatori
AliasiEVI5
Vanjski ID-jeviOMIM: 602942 MGI: 104736 HomoloGene: 121902 GeneCards: EVI5
Lokacija gena (čovjek)
Hromosom 1 (čovjek)
Hrom.Hromosom 1 (čovjek)[1]
Hromosom 1 (čovjek)
Genomska lokacija za EVI5
Genomska lokacija za EVI5
Bend1p22.1Početak92,508,696 bp[1]
Kraj92,792,404 bp[1]
Lokacija gena (miš)
Hromosom 5 (miš)
Hrom.Hromosom 5 (miš)[2]
Hromosom 5 (miš)
Genomska lokacija za EVI5
Genomska lokacija za EVI5
Bend5 F|5 52.23 cMPočetak107,892,661 bp[2]
Kraj108,022,973 bp[2]
Obrazac RNK ekspresije


Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija GO:0001948, GO:0016582 vezivanje za proteine
GO:0005097, GO:0005099, GO:0005100 GTPase activator activity
Ćelijska komponenta citoplazma
citosol
Diobeno vreteno
citoskelet
jedro
centar organizacije mikrotubula
Endomembranski sistem
Golđijev aparat
intracellular membrane-bounded organelle
Biološki proces Ćelijska dioba
multicellular organism development
regulation of cilium assembly
GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 regulation of GTPase activity
ćelijski ciklus
Ćelijska proliferacija
retrograde transport, endosome to Golgi
regulation of vesicle fusion
intracellular protein transport
GO:0032861, GO:0032862, GO:0032856 activation of GTPase activity
GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001308248
NM_005665
NM_001350197
NM_001350198
NM_001377210

NM_001377211
NM_001377212
NM_001377213

NM_007964
NM_001378824
NM_001378825

RefSeq (bjelančevina)
NP_001295177
NP_005656
NP_001337126
NP_001337127
NP_001364139

NP_001364140
NP_001364141
NP_001364142

n/a

Lokacija (UCSC)Chr 1: 92.51 – 92.79 MbChr 5: 107.89 – 108.02 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Proteinski homolog ekotropskog virusnog integracijskog mjesta 5 jest protein koji je kod ljudi kodiran genom EVI5 sa hromosoma 1.[5][6]

Amiokiselininska sekvenca

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Dužina polipeptidnog lanca je 810 aminokiselina, a molekulska težina 92.949 Da.[7]

1020304050
MVTNKMTAAFRNPSGKQVATDKVAEKLSSTLSWVKNTVSHTVSQMASQVA
SPSTSLHTTSSSTTLSTPALSPSSPSQLSPDDLELLAKLEEQNRLLETDS
KSLRSVNGSRRNSGSSLVSSSSASSNLSHLEEDSWILWGRIVNEWEDVRK
KKEKQVKELVHKGIPHHFRAIVWQLLCSAQSMPIKDQYSELLKMTSPCEK
LIRRDIARTYPEHNFFKEKDSLGQEVLFNVMKAYSLVDREVGYCQGSAFI
VGLLLMQMPEEEAFCVFVKLMQDYRLRELFKPSMAELGLCMYQFECMIQE
HLPELFVHFQSQSFHTSMYASSWFLTIFLTTFPLPIATRIFDIFMSEGLE
IVFRVGLALLQMNQAELMQLDMEGMLQHFQKVIPHQFDGVPDKLIQAAYQ
VKYNSKKMKKLEKEYTTIKTKEMEEQVEIKRLRTENRLLKQRIETLEKHK
CSSNYNEDFVLQLEKELVQARLSEAESQCALKEMQDKVLDIEKRNNSLPD
ENNIARLQEELIAVKLREAEAIMGLKELRQQVKDLEEHWQRHLARTTGRW
KDPPKKNAMNELQDELMTIRLREAETQAEIREIKQRMMEMETQNQINSNH
LRRAEQEVISLQEKVQYLSAQNKGLLTQLSEAKRKQAEIECKNKEEVMAV
RLREADSIAAVAELRQHIAELEIQKEEGKLQGQLNKSDSNQYIGELKDQI
AELNHELRCLKGQRGFSGQPPFDGIHIVNHLIGDDESFHSSDEDFIDNSL
QETGVGFPLHGKSGSMSLDPAVADGSESETEDSVLETRESNQVVQKERPP
RRRESYSTTV

Modelni organizmi

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U proučavanju funkcije EVI5 korišteni su modelni organizmi. Uslovna nokaut-mišja linija pod nazivom Evi5tm1a(KOMP)Wtsi generirana je u Institutu Wellcome Trust Sanger.[8] Mužjaci i ženke podvrgnuti su standardizovanom fenotipskom pregledu[9] za ordeđivanje efekata delecija.[10][11][12][13] Urađeni su dodatni pregledi: Dubinska imunološka fenotipizacija[14]

Fenotip Evi5 nokaut-miševa
Svojstvo Fenotip
Svi podaci raspoloživi.[9][14]
Leukociti periferne krvi 6 sedmica Normalan
Insulin Normalan
Hematologija 6 sedmica Normalan
Vijabilnost homozigota na P14 Normalan
Plodnost homozigota Normalan
Tjelesna 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
Funkcija citotoksičnih T-ćelija Normalan
Imunofenotipirzacija slezene Normalan
Imunofenotipirzacija mezenternog limfnog čvora Normalan
Imunofenotipirzacija koštane srži Normalan
Kompoziocija epidermne imunosti Normalan

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000067208 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000011831 - 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. ^ Roberts T, Chernova O, Cowell JK (Jul 1998). "NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma". Human Molecular Genetics. 7 (7): 1169–78. doi:10.1093/hmg/7.7.1169. PMID 9618176.
  6. ^ "Entrez Gene: EVI5 ecotropic viral integration site 5".
  7. ^ "UniProt, O60447" (jezik: engleski). Pristupljeno 25. 11. 2021.
  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.
  9. ^ a b "International Mouse Phenotyping Consortium".
  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.
  11. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  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.
  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.
  14. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium".[mrtav link]

Dopunska literatura

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