RNK-vezujući protein EWS jest protein koji je kod ljudi kodiran genom EWSR1 sa hromosoma 22, regija 22q12.2.[5][6] To je jedan od tri proteina u porodici FET.[7]

EWSR1
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

2CPE

Identifikatori
AliasiEWSR1
Vanjski ID-jeviOMIM: 133450 MGI: 99960 HomoloGene: 136069 GeneCards: EWSR1
Lokacija gena (čovjek)
Hromosom 22 (čovjek)
Hrom.Hromosom 22 (čovjek)[1]
Hromosom 22 (čovjek)
Genomska lokacija za EWSR1
Genomska lokacija za EWSR1
Bend22q12.2Početak29,268,009 bp[1]
Kraj29,300,525 bp[1]
Lokacija gena (miš)
Hromosom 11 (miš)
Hrom.Hromosom 11 (miš)[2]
Hromosom 11 (miš)
Genomska lokacija za EWSR1
Genomska lokacija za EWSR1
Bend11|11 A1Početak5,069,689 bp[2]
Kraj5,099,266 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija vezivanje iona metala
GO:0001948, GO:0016582 vezivanje za proteine
calmodulin binding
vezivanje identičnih proteina
nucleic acid binding
vezivanje sa RNK
Ćelijska komponenta citoplazma
ćelijska membrana
Jedarce
membrana
jedro
Biološki proces GO:0009373 regulation of transcription, DNA-templated
transcription, DNA-templated
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001163285
NM_001163286
NM_001163287
NM_005243
NM_013986

NM_001283061
NM_001283062
NM_001283063
NM_007968

RefSeq (bjelančevina)

NP_001156757
NP_001156758
NP_001156759
NP_005234
NP_053733

NP_001269990
NP_001269991
NP_001269992
NP_031994
NP_001349541

NP_001349542
NP_001349543
NP_001349544
NP_001349545
NP_001349546
NP_001349547
NP_001349549

Lokacija (UCSC)Chr 22: 29.27 – 29.3 MbChr 11: 5.07 – 5.1 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 656 aminokiselina, a molekulska težina 68.478 Da.

1020304050
MASTDYSTYSQAAAQQGYSAYTAQPTQGYAQTTQAYGQQSYGTYGQPTDV
SYTQAQTTATYGQTAYATSYGQPPTGYTTPTAPQAYSQPVQGYGTGAYDT
TTATVTTTQASYAAQSAYGTQPAYPAYGQQPAATAPTRPQDGNKPTETSQ
PQSSTGGYNQPSLGYGQSNYSYPQVPGSYPMQPVTAPPSYPPTSYSSTQP
TSYDQSSYSQQNTYGQPSSYGQQSSYGQQSSYGQQPPTSYPPQTGSYSQA
PSQYSQQSSSYGQQSSFRQDHPSSMGVYGQESGGFSGPGENRSMSGPDNR
GRGRGGFDRGGMSRGGRGGGRGGMGSAGERGGFNKPGGPMDEGPDLDLGP
PVDPDEDSDNSAIYVQGLNDSVTLDDLADFFKQCGVVKMNKRTGQPMIHI
YLDKETGKPKGDATVSYEDPPTAKAAVEWFDGKDFQGSKLKVSLARKKPP
MNSMRGGLPPREGRGMPPPLRGGPGGPGGPGGPMGRMGGRGGDRGGFPPR
GPRGSRGNPSGGGNVQHRAGDWQCPNPGCGNQNFAWRTECNQCKAPKPEG
FLPPPFPPPGGDRGRGGPGGMRGGRGGLMDRGGPGGMFRGGRGGDRGGFR
GGRGMDRGGFGGGRRGGPGGPPGPLMEQMGGRRGGRGGPGKMDKGEHRQE
RRDRPY

Funkcija

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Regija q22.2 hromosoma 22 kodira N-terminalni transaktivacijski domen EWS proteina i ta regija može postati povezana s jednim od nekoliko drugih hromosoma koji kodiraju različite faktore transkripcije, vidi[8] i porodicu proteina FET. Ekspresija himernog proteina sa domenom transaktivacije EWS spojenog sa DNK vezujućom regijom transkripcijsog faktora stvara moćni onkogeni protein koji uzrokuje Ewingov sarkom i druge članove porodice Ewigovih tumora. Ove translokacije mogu se dogoditi zbog hromopleksija, naleta složenih hromosomskih preuređivanja uočenih u ćelijama raka.[9] Normalni gen EWS kodira protein koji se vezuje za RNK, usko povezan sa genima FUS i TAF15, a svi su povezani sa amiotrofnom lateralnom sklerozom.[10]

Interakcije

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Pokazalo se da EWS protein reaguje sa:

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182944 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000009079 - 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. ^ Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G (October 1992). "Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours". Nature. 359 (6391): 162–5. Bibcode:1992Natur.359..162D. doi:10.1038/359162a0. PMID 1522903. S2CID 4331584.
  6. ^ "Entrez Gene: EWSR1 Ewing sarcoma breakpoint region 1".
  7. ^ Flucke U, van Noesel MM, Siozopoulou V, Creytens D, Tops BB, van Gorp JM, Hiemcke-Jiwa LS (June 2021). "EWSR1-The Most Common Rearranged Gene in Soft Tissue Lesions, Which Also Occurs in Different Bone Lesions: An Updated Review". Diagnostics (Basel, Switzerland). 11 (6): 1093. doi:10.3390/diagnostics11061093. PMC 8232650 Provjerite vrijednost parametra |pmc= (pomoć). PMID 34203801 Provjerite vrijednost parametra |pmid= (pomoć).
  8. ^ "EWS family fusion genes - OMIM".
  9. ^ Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M (August 2018). "Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors". Science. 361 (6405): eaam8419. doi:10.1126/science.aam8419. PMC 6176908. PMID 30166462.
  10. ^ Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KL, Clay-Falcone D, Elman L, McCluskey L, Greene R, Hakonarson H, Kalb RG, Lee VM, Trojanowski JQ, Nicholson GA, Blair IP, Bonini NM, Van Deerlin VM, Mourelatos Z, Shorter J, Gitler AD (2012). "Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis". Hum. Mol. Genet. 21 (13): 2899–911. doi:10.1093/hmg/dds116. PMC 3373238. PMID 22454397.
  11. ^ Fujimura Y, Ohno T, Siddique H, Lee L, Rao VN, Reddy ES (January 1996). "The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t(12;22) chromosome translocation, encodes a constitutive transcriptional activator". Oncogene. 12 (1): 159–67. PMID 8552387.
  12. ^ Spahn L, Petermann R, Siligan C, Schmid JA, Aryee DN, Kovar H (August 2002). "Interaction of the EWS NH2 terminus with BARD1 links the Ewing's sarcoma gene to a common tumor suppressor pathway". Cancer Res. 62 (16): 4583–7. PMID 12183411.
  13. ^ Ohno T, Ouchida M, Lee L, Gatalica Z, Rao VN, Reddy ES (Oct 1994). "The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors, codes for an RNA binding protein with novel regulatory domains". Oncogene. 9 (10): 3087–97. PMID 8084618.
  14. ^ Thomas GR, Latchman DS (2002). "The pro-oncoprotein EWS (Ewing's Sarcoma protein) interacts with the Brn-3a POU transcription factor and inhibits its ability to activate transcription". Cancer Biol. Ther. 1 (4): 428–32. doi:10.4161/cbt.1.4.23. PMID 12432261.
  15. ^ Felsch JS, Lane WS, Peralta EG (May 1999). "Tyrosine kinase Pyk2 mediates G-protein-coupled receptor regulation of the Ewing sarcoma RNA-binding protein EWS". Curr. Biol. 9 (9): 485–8. doi:10.1016/s0960-9822(99)80214-0. PMID 10322114.
  16. ^ Zhang D, Paley AJ, Childs G (July 1998). "The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription". J. Biol. Chem. 273 (29): 18086–91. doi:10.1074/jbc.273.29.18086. PMID 9660765.
  17. ^ Knoop LL, Baker SJ (August 2000). "The splicing factor U1C represses EWS/FLI-mediated transactivation". J. Biol. Chem. 275 (32): 24865–71. doi:10.1074/jbc.M001661200. PMID 10827180.
  18. ^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Dopunska literatura

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Vanjski linkovi

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