ESCO2
N-acetiltransferaza ESCO2, znana i kao homolog 2 uspostave kohezije 1 ili ECO1 homolog 2, je enzim koji je kod ljudi kodiran genom ESCO2.[5][6][7]
Aminokiselinska sekvenca
[uredi | uredi izvor]Dužina polipeptidnog lanca je 601 aminokiselina, а molekulska težina 68.307 Da.[8]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAALTPRKRK | QDSLKCDSLL | HFTENLFPSP | NKKHCFYQNS | DKNEENLHCS | ||||
| QQEHFVLSAL | KTTEINRLPS | ANQGSPFKSA | LSTVSFYNQN | KWYLNPLERK | ||||
| LIKESRSTCL | KTNDEDKSFP | IVTEKMQGKP | VCSKKNNKKP | QKSLTAKYQP | ||||
| KYRHIKPVSR | NSRNSKQNRV | IYKPIVEKEN | NCHSAENNSN | APRVLSQKIK | ||||
| PQVTLQGGAA | FFVRKKSSLR | KSSLENEPSL | GRTQKSKSEV | IEDSDVETVS | ||||
| EKKTFATRQV | PKCLVLEEKL | KIGLLSASSK | NKEKLIKDSS | DDRVSSKEHK | ||||
| VDKNEAFSSE | DSLGENKTIS | PKSTVYPIFS | ASSVNSKRSL | GEEQFSVGSV | ||||
| NFMKQTNIQK | NTNTRDTSKK | TKDQLIIDAG | QKHFGATVCK | SCGMIYTASN | ||||
| PEDEMQHVQH | HHRFLEGIKY | VGWKKERVVA | EFWDGKIVLV | LPHDPSFAIK | ||||
| KVEDVQELVD | NELGFQQVVP | KCPNKIKTFL | FISDEKRVVG | CLIAEPIKQA | ||||
| FRVLSEPIGP | ESPSSTECPR | AWQCSDVPEP | AVCGISRIWV | FRLKRRKRIA | ||||
| RRLVDTLRNC | FMFGCFLSTD | EIAFSDPTPD | GKLFATKYCN | TPNFLVYNFN | ||||
| S |
Funkcija
[uredi | uredi izvor]Ovaj gen kodira protein koji može imati acetiltransferaznu aktivnost i može biti potreban za uspostavljanje kohezija sestrinskih hromatida tokom S-faze ćelijskog ciklusa.[5]
Klinički značaj
[uredi | uredi izvor]Mutacije u genu ESCO2 povezane su s Robertsovim sindromom.[9]
Također pogledajte
[uredi | uredi izvor]Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000171320 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022034 - 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.
- ^ a b "Entrez Gene: establishment of cohesion 1 homolog 2 (S. cerevisiae)".
- ^ Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H (maj 2005). "Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion". Nat. Genet. 37 (5): 468–70. doi:10.1038/ng1548. PMID 15821733. S2CID 22948986.
- ^ Hou F, Zou H (august 2005). "Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion". Mol. Biol. Cell. 16 (8): 3908–18. doi:10.1091/mbc.E04-12-1063. PMC 1182326. PMID 15958495.
- ^ "UniProt, Q56NI9" (jezik: engleski). Pristupljeno 16. 9. 2021.
- ^ Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW (juli 2008). "The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity". Hum. Mol. Genet. 17 (14): 2172–80. doi:10.1093/hmg/ddn116. PMID 18411254.
Dopunska literatura
[uredi | uredi izvor]- Bender D, De Silva E, Chen J, Poss A, Gawey L, Rulon Z, Rankin, S (decembar 2019). "Multivalent interaction of ESCO2 with replication machinery is required for sister chromatid cohesion in vertebrates". Proc. Natl. Acad. Sci. U.S.A. 117 (2): 1081–1089. doi:10.1073/pnas.1911936117. PMC 6969535. PMID 31879348.</ref>
- Enjuanes A, Benavente Y, Bosch F, et al. (2008). "Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia". Cancer Res. 68 (24): 10178–86. doi:10.1158/0008-5472.CAN-08-2221. PMID 19074885.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
- Nishihara M, Yamada M, Nozaki M, et al. (2010). "Transcriptional regulation of the human establishment of cohesion 1 homolog 2 gene". Biochem. Biophys. Res. Commun. 393 (1): 111–7. doi:10.1016/j.bbrc.2010.01.094. PMID 20116366.
- Vega H, Trainer AH, Gordillo M, et al. (2010). "Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome". J. Med. Genet. 47 (1): 30–7. doi:10.1136/jmg.2009.068395. PMID 19574259. S2CID 39261608.
- van der Lelij P, Godthelp BC, van Zon W, et al. (2009). "The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2". PLOS ONE. 4 (9): e6936. Bibcode:2009PLoSO...4.6936V. doi:10.1371/journal.pone.0006936. PMC 2734174. PMID 19738907.
- Tomkins D, Hunter A, Roberts M (1979). "Cytogenetic findings in Roberts-SC phocomelia syndrome(s)". Am. J. Med. Genet. 4 (1): 17–26. doi:10.1002/ajmg.1320040104. PMID 495649.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Schüle B, Oviedo A, Johnston K, et al. (2005). "Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation". Am. J. Hum. Genet. 77 (6): 1117–28. doi:10.1086/498695. PMC 1285169. PMID 16380922.
- Kim BJ, Kang KM, Jung SY, et al. (2008). "Esco2 is a novel corepressor that associates with various chromatin modifying enzymes". Biochem. Biophys. Res. Commun. 372 (2): 298–304. doi:10.1016/j.bbrc.2008.05.056. PMID 18501190.
- Schulz S, Gerloff C, Ledig S, et al. (2008). "Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family". Prenat. Diagn. 28 (1): 42–5. doi:10.1002/pd.1904. PMID 18186147. S2CID 5463824.
- Resta N, Susca FC, Di Giacomo MC, et al. (2006). "A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency". J. Cell. Physiol. 209 (1): 67–73. doi:10.1002/jcp.20708. PMID 16775838. S2CID 10531373.
