ESCO2

ESCO2
Identifikatori
Aliasi	ESCO2
Vanjski ID-jevi	OMIM: 609353 MGI: 1919238 HomoloGene: 12432 GeneCards: ESCO2
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	27,812,640 bp
Lokacija gena (miš)
Hrom.	Hromosom 14 (miš)
Kraj	66,071,443 bp
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • acyltransferase activity; • vezivanje iona metala; • lysine N-acetyltransferase activity, acting on acetyl phosphate as donor; • N-acetyltransferase activity; • acetyltransferase activity;
Ćelijska komponenta	• site of double-strand break; • XY body; • chromocenter; • Hromatin; • Golđijev aparat; • jedro; • nukleoplazma; • međućelijske veze; • hromosom;
Biološki proces	• hromosomska segregacija; • post-translational protein acetylation; • ćelijski ciklus; • protein localization to chromatin; • double-strand break repair; • hematopoietic progenitor cell differentiation; • regulation of DNA replication; • sister chromatid cohesion;
	Izvori:Amigo / QuickGO
Ortolozi
	157570
	71988
	ENSG00000171320
	ENSMUSG00000022034
	Q56NI9
	Q8CIB9
	NM_001017420
	NM_028039
	NP_001017420
	NP_082315
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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

Dužina polipeptidnog lanca je 601 aminokiselina, а molekulska težina 68.307 Da.^[8]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

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

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

Mutacije u genu ESCO2 povezane su s Robertsovim sindromom.^[9]

Također pogledajte uredi

Reference uredi

^ ^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

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.

Vanjski linkovi uredi

Commons ima datoteke na temu: ESCO2

GeneReviews/NIH/NCBI/UW entry on Roberts Syndrome

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000171320 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022034 - 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.

[entrez-5] "Entrez Gene: establishment of cohesion 1 homolog 2 (S. cerevisiae)".

[pmid15821733-6] 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.

[pmid15958495-7] 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-8] "UniProt, Q56NI9" (jezik: engleski). Pristupljeno 16. 9. 2021.

[pmid18411254-9] 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.

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