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FLASH GENE

Symbol

RNASEH1

contributors: mct - updated : 21-08-2015

HGNC name	ribonuclease H1
HGNC id	18466

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	26.56 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

located in the SMCR critical region

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002936 8 - 1865 NP_002927 - 286 - 2009 19228196 NM_001286834 8 - 1865 NP_001273763 - 260 - 2009 19228196 NM_001286837 8 - 2103 NP_001273766 - 169 - 2009 19228196

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       moderately Nervous brain       moderately Reproductive male system prostate     moderately Respiratory lung       moderately Urinary kidney       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain known as dsRHbd for binding both dsRNA and RNA/DNA hybrid (hybrid binding domain (HBD), dramatically enhancing both the specific activity and processivity of RNASEH1
	a conserved motif implicated in binding of RNA
	a RNA-DNA hybrids at the terminus
	C terminal Rnase H motif

mono polymer

homomer , monomer

HOMOLOGY

interspecies

homolog to murine Rnaseh1

Homologene

FAMILY

Rnase H family

CATEGORY

enzyme , DNA associated , RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus
text	most RNase H1 predominantly localizes to the nucleus, a fraction of the protein is found in mitochondria

basic FUNCTION	endonuclease degrading the RNA of RNA-DNA hybrids specifically
	is required for effective mtDNA replication in humans
	has acquired a hybrid binding domain that confers processivity and affinity for the substrate
	translational organization of RNASEH1 allows tight control of expression of RNASEH1 in mitochondria, where its excess or absence can lead to cell death, without affecting the expression of the nuclear RNASEH1
	RNASEH1, RNASEH2A are necessary for the removal of RNA that is found in DNA
	RNase H1 functions to processively cleave long stretches of RNA/DNA hybrids
	implicated in mitochondrial DNA replication and RNA processing and is required for embryonic development
	is a member of the 'RNase H1 degradosome' and the key C1QBP enhances the enzymatic efficiency of RNASEH1
	potential roles for RNase H1 to include assuring proper transcription and processing of guanosine-cytosine rich pre-ribosomal RNA in mitochondria
	maintains regulated levels of telomeric RNA-DNA hybrids at 'Alternative Lengthening of Telomeres' to trigger HR without compromising telomere integrity too severely

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binding to DNA-RNA hybrids

RNA	binding to DNA-RNA hybrids

small molecule	metal binding, cofactor,
	magnesium Mg2+

protein

C1QBP binds specifically to human RNASEH1, but not human RNASEH2A

cell & other

REGULATION

inhibited by

manganese (Mg2+)

ASSOCIATED DISORDERS

corresponding disease(s)

PEOB2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS