Protein CBFA2T1 je protein koji je kod ljudi kodiran genom RUNX1T1.[5][6][7]

RUNX1T1
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

1WQ6, 2DJ8, 2H7B, 2KYG, 2OD1, 2ODD, 2PP4, 4JOL

Identifikatori
AliasiRUNX1T1
Vanjski ID-jeviOMIM: 133435 MGI: 104793 HomoloGene: 3801 GeneCards: RUNX1T1
Lokacija gena (čovjek)
Hromosom 8 (čovjek)
Hrom.Hromosom 8 (čovjek)[1]
Hromosom 8 (čovjek)
Genomska lokacija za RUNX1T1
Genomska lokacija za RUNX1T1
Bend8q21.3Početak91,954,967 bp[1]
Kraj92,103,286 bp[1]
Lokacija gena (miš)
Hromosom 4 (miš)
Hrom.Hromosom 4 (miš)[2]
Hromosom 4 (miš)
Genomska lokacija za RUNX1T1
Genomska lokacija za RUNX1T1
Bend4 A1|4 5.88 cMPočetak13,743,436 bp[2]
Kraj13,893,649 bp[2]
Obrazac RNK ekspresije




Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity
vezivanje sa DNK
GO:0001948, GO:0016582 vezivanje za proteine
GO:0001106 transcription corepressor activity
vezivanje iona metala
Ćelijska komponenta nuclear matrix
jedro
nukleoplazma
Biološki proces negative regulation of fat cell differentiation
GO:0045996 negative regulation of transcription, DNA-templated
GO:0009373 regulation of transcription, DNA-templated
generation of precursor metabolites and energy
transcription, DNA-templated
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001198625
NM_001198626
NM_001198627
NM_001198628
NM_001198629

NM_001198630
NM_001198631
NM_001198632
NM_001198633
NM_001198634
NM_001198679
NM_004349
NM_175634
NM_175635
NM_175636
NM_001395209

NM_001111026
NM_001111027
NM_009822

RefSeq (bjelančevina)
NP_001185554
NP_001185555
NP_001185556
NP_001185557
NP_001185558

NP_001185559
NP_001185560
NP_001185561
NP_001185562
NP_001185563
NP_001185608
NP_004340
NP_783552
NP_783553
NP_783554
NP_783553.1
NP_783554.1

NP_001104496
NP_001104497
NP_033952

Lokacija (UCSC)Chr 8: 91.95 – 92.1 MbChr 4: 13.74 – 13.89 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 604 aminokiseline, а molekulska težina 67.566 Da.[8]

1020304050
MISVKRNTWRALSLVIGDCRKKGNFEYCQDRTEKHSTMPDSPVDVKTQSR
LTPPTMPPPPTTQGAPRTSSFTPTTLTNGTSHSPTALNGAPSPPNGFSNG
PSSSSSSSLANQQLPPACGARQLSKLKRFLTTLQQFGNDISPEIGERVRT
LVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCA
RLAKQNPAQYLAQHEQLLLDASTTSPVDSSELLLDVNENGKRRTPDRTKE
NGFDREPLHSEHPSKRPCTISPGQRYSPNNGLSYQPNGLPHPTPPPPQHY
RLDDMAIAHHYRDSYRHPSHRDLRDRNRPMGLHGTRQEEMIDHRLTDREW
AEEWKHLDHLLNCIMDMVEKTRRSLTVLRRCQEADREELNYWIRRYSDAE
DLKKGGGSSSSHSRQQSPVNPDPVALDAHREFLHRPASGYVPEEIWKKAE
EAVNEVKRQAMTELQKAVSEAERKAHDMITTERAKMERTVAEAKRQAAED
ALAVINQQEDSSESCWNCGRKASETCSGCNTARYCGSFCQHKDWEKHHHI
CGQTLQAQQQGDTPAVSSSVTPNSGAGSPMDTPPAATPRSTTPGTPSTIE
TTPR

Funkcija uredi

Protein kodiran ovim genom je pretpostavljeni faktor transkripcije cinkovih prstiju i onkoprotein. U akutnoj mijeloidnoj leukemiji, posebno u podtipu M2, translokacija t (8; 21) (q22; q22) jedna je od najčešćih kariotipskih abnormalnosti. Translokacija proizvodi himerni gen sačinjen od 5'-regije gena RUNX1 spojenog s njegovom 3'-regijom. Smatra se da se himerni protein povezuje sa kompleksom jedarne jezgrene /histon-deacetilaze da blokira hematopoetsku diferencijaciju. Za ovaj gen pronađeno je nekoliko varijanti transkripta koje kodiraju više izoformi.[7]

Interakcije uredi

Za RUNX1T1 je pokazano da stupa uinterakcije sa:

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000079102 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006586 - 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. ^ Erickson P, Gao J, Chang KS, Look T, Whisenant E, Raimondi S, Lasher R, Trujillo J, Rowley J, Drabkin H (oktobar 1992). "Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt". Blood. 80 (7): 1825–31. doi:10.1182/blood.V80.7.1825.1825. PMID 1391946.
  6. ^ Calabi F, Cilli V (Dec 1998). "CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family". Genomics. 52 (3): 332–341. doi:10.1006/geno.1998.5429. PMID 9790752.
  7. ^ a b "Entrez Gene: RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)".
  8. ^ "UniProt, Q06455" (jezik: англ.). Pristupljeno 21. 9. 2021.CS1 održavanje: nepoznati jezik (link)
  9. ^ 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 (oktobar 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.
  10. ^ a b Lindberg SR, Olsson A, Persson AM, Olsson I (Dec 2003). "Interactions between the leukaemia-associated ETO homologues of nuclear repressor proteins". Eur. J. Haematol. 71 (6): 439–47. doi:10.1046/j.0902-4441.2003.00166.x. PMID 14703694. S2CID 23106882.
  11. ^ a b Hoogeveen AT, Rossetti S, Stoyanova V, Schonkeren J, Fenaroli A, Schiaffonati L, van Unen L, Sacchi N (septembar 2002). "The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t (16; 21)-positive myeloid malignancies". Oncogene. 21 (43): 6703–12. doi:10.1038/sj.onc.1205882. PMID 12242670.
  12. ^ Puccetti E, Obradovic D, Beissert T, Bianchini A, Washburn B, Chiaradonna F, Boehrer S, Hoelzer D, Ottmann OG, Pelicci PG, Nervi C, Ruthardt M (Dec 2002). "AML-associated translocation products block vitamin D(3)-induced differentiation by sequestering the vitamin D(3) receptor". Cancer Res. 62 (23): 7050–8. PMID 12460926.
  13. ^ McGhee L, Bryan J, Elliott L, Grimes HL, Kazanjian A, Davis JN, Meyers S (august 2003). "Gfi-1 attaches to the nuclear matrix, associates with ETO (MTG8) and histone deacetylase proteins, and represses transcription using a TSA-sensitive mechanism". J. Cell. Biochem. 89 (5): 1005–18. doi:10.1002/jcb.10548. PMID 12874834. S2CID 25450754.
  14. ^ Amann JM, Nip J, Strom DK, Lutterbach B, Harada H, Lenny N, Downing JR, Meyers S, Hiebert SW (oktobar 2001). "ETO, a target of t(8;21) in acute leukemia, makes distinct contacts with multiple histone deacetylases and binds mSin3A through its oligomerization domain". Mol. Cell. Biol. 21 (19): 6470–83. doi:10.1128/mcb.21.19.6470-6483.2001. PMC 99794. PMID 11533236.
  15. ^ a b Zhang J, Hug BA, Huang EY, Chen CW, Gelmetti V, Maccarana M, Minucci S, Pelicci PG, Lazar MA (januar 2001). "Oligomerization of ETO is obligatory for corepressor interaction". Mol. Cell. Biol. 21 (1): 156–63. doi:10.1128/MCB.21.1.156-163.2001. PMC 88789. PMID 11113190.
  16. ^ Takahashi S, McConnell MJ, Harigae H, Kaku M, Sasaki T, Melnick AM, Licht JD (juni 2004). "The Flt3 internal tandem duplication mutant inhibits the function of transcriptional repressors by blocking interactions with SMRT". Blood. 103 (12): 4650–8. doi:10.1182/blood-2003-08-2759. PMID 14982881.
  17. ^ Fukuyama T, Sueoka E, Sugio Y, Otsuka T, Niho Y, Akagi K, Kozu T (septembar 2001). "MTG8 proto-oncoprotein interacts with the regulatory subunit of type II cyclic AMP-dependent protein kinase in lymphocytes". Oncogene. 20 (43): 6225–32. doi:10.1038/sj.onc.1204794. PMID 11593431.
  18. ^ Melnick AM, Westendorf JJ, Polinger A, Carlile GW, Arai S, Ball HJ, Lutterbach B, Hiebert SW, Licht JD (mart 2000). "The ETO protein disrupted in t(8;21)-associated acute myeloid leukemia is a corepressor for the promyelocytic leukemia zinc finger protein". Mol. Cell. Biol. 20 (6): 2075–86. doi:10.1128/mcb.20.6.2075-2086.2000. PMC 110824. PMID 10688654.
  19. ^ Melnick A, Carlile GW, McConnell MJ, Polinger A, Hiebert SW, Licht JD (Dec 2000). "AML-1/ETO fusion protein is a dominant negative inhibitor of transcriptional repression by the promyelocytic leukemia zinc finger protein". Blood. 96 (12): 3939–47. doi:10.1182/blood.V96.12.3939. PMID 11090081.

Dopunska literatura uredi

Vanjski linkovi uredi