Ribonuclease H2 Subunit A (RNASEH2A)

Rnase-H2A; RNASEHI; RNHIA; RNHL; AGS4; Ribonuclease H2,Large Subunit; Aicardi-Goutieres Syndrome 4; Ribonuclease HI large subunit

SPN	T616
HGNC	18518
MGI	1916974
PubMed	21454563
RGD	1307248
UniProt	O75792
Wiki	RNASEH2A

Ribonuclease H2Ais a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes.

Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.

Reference

"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. 95:12872-12877(1998) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutieres syndrome defects."
J. Biol. Chem. 286:10540-10550(2011) [PubMed] [Europe PMC] [Abstract]

"Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection."
Nat. Genet. 38:910-916(2006) [PubMed] [Europe PMC] [Abstract]

"Clinical and molecular phenotype of Aicardi-Goutieres syndrome."
Am. J. Hum. Genet. 81:713-725(2007) [PubMed] [Europe PMC] [Abstract]

"Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome."
Arthritis Rheum. 62:1469-1477(2010) [PubMed] [Europe PMC] [Abstract]