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]

ESCO2
Identifikatori
AliasiESCO2
Vanjski ID-jeviOMIM: 609353 MGI: 1919238 HomoloGene: 12432 GeneCards: ESCO2
Lokacija gena (čovjek)
Hromosom 8 (čovjek)
Hrom.Hromosom 8 (čovjek)[1]
Hromosom 8 (čovjek)
Genomska lokacija za ESCO2
Genomska lokacija za ESCO2
Bend8p21.1Početak27,771,949 bp[1]
Kraj27,812,640 bp[1]
Lokacija gena (miš)
Hromosom 14 (miš)
Hrom.Hromosom 14 (miš)[2]
Hromosom 14 (miš)
Genomska lokacija za ESCO2
Genomska lokacija za ESCO2
Bend14|14 D1Početak66,056,487 bp[2]
Kraj66,071,443 bp[2]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001017420

NM_028039

RefSeq (bjelančevina)

NP_001017420

NP_082315

Lokacija (UCSC)Chr 8: 27.77 – 27.81 MbChr 14: 66.06 – 66.07 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš
Gen ESCO2 nalazi se na kratkom (p) kraku hromosoma 8, na poziciji P21.1.

Aminokiselinska sekvenca

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

1020304050
MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEENLHCS
QQEHFVLSALKTTEINRLPSANQGSPFKSALSTVSFYNQNKWYLNPLERK
LIKESRSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKPQKSLTAKYQP
KYRHIKPVSRNSRNSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIK
PQVTLQGGAAFFVRKKSSLRKSSLENEPSLGRTQKSKSEVIEDSDVETVS
EKKTFATRQVPKCLVLEEKLKIGLLSASSKNKEKLIKDSSDDRVSSKEHK
VDKNEAFSSEDSLGENKTISPKSTVYPIFSASSVNSKRSLGEEQFSVGSV
NFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTASN
PEDEMQHVQHHHRFLEGIKYVGWKKERVVAEFWDGKIVLVLPHDPSFAIK
KVEDVQELVDNELGFQQVVPKCPNKIKTFLFISDEKRVVGCLIAEPIKQA
FRVLSEPIGPESPSSTECPRAWQCSDVPEPAVCGISRIWVFRLKRRKRIA
RRLVDTLRNCFMFGCFLSTDEIAFSDPTPDGKLFATKYCNTPNFLVYNFN
S

Funkcija

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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

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

Također pogledajte

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Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171320 - Ensembl, maj 2017
  2. ^ a b c 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.
  5. ^ a b "Entrez Gene: establishment of cohesion 1 homolog 2 (S. cerevisiae)".
  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.
  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.
  8. ^ "UniProt, Q56NI9" (jezik: engleski). Pristupljeno 16. 9. 2021.
  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.

Dopunska literatura

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Vanjski linkovi

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