RNASEH2A
| edit |
| Ribonukleaza H2, podjedinica A | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Dostupne strukture | |||||||||||
| 3P56, 3PUF | |||||||||||
| Identifikatori | |||||||||||
| Simboli | RNASEH2A; AGS4; JUNB; RNASEHI; RNHIA; RNHL | ||||||||||
| Vanjski ID | OMIM: 606034 MGI: 1916974 HomoloGene: 4664 GeneCards: RNASEH2A Gene | ||||||||||
| EC broj | 3.1.26.4 | ||||||||||
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| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 10535 | 69724 | |||||||||
| Ensembl | ENSG00000104889 | ENSMUSG00000052926 | |||||||||
| UniProt | O75792 | Q9CWY8 | |||||||||
| Ref. Sekv. (iRNK) | NM_006397 | NM_027187 | |||||||||
| Ref. Sekv. (protein) | NP_006388 | NP_081463 | |||||||||
| Lokacija (UCSC) | Chr 19: 12.92 - 12.92 Mb | Chr 8: 84.96 - 84.97 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
Podjedinica A ribonukleaze H2, takođe poznata kao podjedinica A RNaze H2, je enzim koji je kod ljudi kodiran RNASEH2A genom.[1]
Funkcija[uredi | uredi kod]
Protein kodiran ovim genom je komponenta heterotrimerne ribonukleaze H tipa II (RNAseH2). RNAseH2 je glavni izvor ribonukleazne H aktivnosti u ćelijama sisara. Ona endonukleolitički preseca ribonukleotide. Smatra se da uklanja Okazakijev fragment RNK prajmera tokom sinteze zaostajućeg lanca DNK i da iseca pojedinačne ribonukleotide iz DNK-DNK dupleksa.[1]
Klinički značaj[uredi | uredi kod]
Mutacije ovog gena uzrokuju Aicardi–Goutières sindrom (AGS), autozomalno recesivni neurološki poremećaj karakterisan progresivnom mikrocefalijom i psihomotornom retardacijom, intrakranijalnom kalcifikacijom, povišenim nivoima interferona alfa i belih krvni zrnca u cerebrospinalnom fluidu.[1]
Reference[uredi | uredi kod]
Literatura[uredi | uredi kod]
- Crow YJ, Leitch A, Hayward BE, et al. (2006). „Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.”. Nat. Genet. 38 (8): 910–6. DOI:10.1038/ng1842. PMID 16845400.
- Chon H, Vassilev A, DePamphilis ML, et al. (2009). „Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex”. Nucleic Acids Res. 37 (1): 96–110. DOI:10.1093/nar/gkn913. PMC 2615623. PMID 19015152.
- Flanagan JM, Funes JM, Henderson S, et al. (2009). „Genomics screen in transformed stem cells reveals RNASEH2A, PPAP2C, and ADARB1 as putative anticancer drug targets”. Mol. Cancer Ther. 8 (1): 249–60. DOI:10.1158/1535-7163.MCT-08-0636. PMID 19139135.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). „The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121–7. DOI:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Bonaldo MF, Lennon G, Soares MB (1996). „Normalization and subtraction: two approaches to facilitate gene discovery”. Genome Res. 6 (9): 791–806. DOI:10.1101/gr.6.9.791. PMID 8889548.
- Rice G, Patrick T, Parmar R, et al. (2007). „Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome”. Am. J. Hum. Genet. 81 (4): 713–25. DOI:10.1086/521373. PMC 2227922. PMID 17846997.
- Frank P, Braunshofer-Reiter C, Wintersberger U, et al. (1998). „Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII”. Proc. Natl. Acad. Sci. U.S.A. 95 (22): 12872–7. DOI:10.1073/pnas.95.22.12872. PMC 23637. PMID 9789007.
- 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. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ganesh SK, Zakai NA, van Rooij FJ, et al. (2009). „Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium”. Nat. Genet. 41 (11): 1191–8. DOI:10.1038/ng.466. PMC 2778265. PMID 19862010.