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FLASH GENE
Symbol RNASEH1 contributors: mct - updated : 21-08-2015
HGNC name ribonuclease H1
HGNC id 18466
Corresponding disease
PEOB2 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Location 2p25.3      Physical location : 3.592.692 - 3.605.940
Synonym name Rnase H1
Synonym symbol(s) RNH1, H1RNA
EC.number 3.1.26.4
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
Physical map
LOC200493 2p25.3 similar to ENSANGP00000000189 LOC200491 2p25.3 hypothetical LOC200491 LOC391343 2 similar to serine/arginine repetitive matrix 2 LOC388920 2 LOC388920 LOC388921 LOC348719 TPO 2p25-p24 thyroid peroxidase LOC391344 2 similar to LWamide neuropeptide precursor protein LOC391345 2 similar to splicing factor 3a, subunit 2 LOC391346 2 similar to hypothetical protein LOC391347 2 similar to Mucin 2 precursor (Intestinal mucin 2) MYT1L 2p25.2-p24.3 myelin transcription factor 1-like D2S448 2p25 Melanoma associated gene RNASEH1 2p25 ribonuclease H1 RPS7 2p25 ribosomal protein S7 COLEC11 2p25.3 collectin sub-family member 11 TMSL2 2 thymosin-like 2 ALLC 2q32.1-q36.3 allantoicase LOC391348 2 similar to MGC52970 protein LOC388922 2 similar to Doublecortin domain-containing protein 2 (RU2S protein) LOC253662 2p25.3 hypothetical LOC253662 LOC200475 2p25.3 hypothetical LOC200475 TSSC1 11p15.5 tumor suppressing subtransferable candidate 1 TTC15 2p25.3 tetratricopeptide repeat domain 15 LOC388923 2 LOC388923 SIPL 2p25.3 SIPL protein
regionally located located in the SMCR critical region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1865 - 286 - 2009 19228196
8 - 1865 - 260 - 2009 19228196
8 - 2103 - 169 - 2009 19228196
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas   moderately
Nervousbrain   moderately
Reproductivemale systemprostate  moderately
Respiratorylung   moderately
Urinarykidney   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