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RNASEH1 ribonuclease H1 [ Homo sapiens (human) ]

Gene ID: 246243, updated on 18-Aug-2020

Summary

Official Symbol
RNASEH1provided by HGNC
Official Full Name
ribonuclease H1provided by HGNC
Primary source
HGNC:HGNC:18466
See related
Ensembl:ENSG00000171865 MIM:604123
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RNH1; H1RNA; PEOB2
Summary
This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in brain (RPKM 5.7), endometrium (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See RNASEH1 in Genome Data Viewer
Location:
2p25.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (3531813..3558367, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (3592675..3605957, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268321 Neighboring gene acireductone dioxygenase 1 Neighboring gene RNASEH1 antisense RNA 1 Neighboring gene ribosomal protein S7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • AC108488.4

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding TAS
Traceable Author Statement
more info
PubMed 
RNA-DNA hybrid ribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA-DNA hybrid ribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleic acid binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonuclease activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
DNA replication, removal of RNA primer IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA catabolic process TAS
Traceable Author Statement
more info
PubMed 
RNA phosphodiester bond hydrolysis, endonucleolytic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ribonuclease H1
Names
ribonuclease H type II
NP_001273763.1
NP_001273766.1
NP_001365200.1
NP_001365201.1
NP_001365202.1
NP_002927.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051310.1 RefSeqGene

    Range
    5001..21942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286834.3NP_001273763.1  ribonuclease H1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes two isoforms due to the use of alternative translation initiation codons. The longer isoform (1) is derived from the upstream AUG start codon, while the shorter isoform (2) is derived from the downstream AUG start codon. This RefSeq represents the shorter isoform (2), which is a nuclear protein (see details in PMID: 20823270).
    Source sequence(s)
    AC108488
    Conserved Domains (2) summary
    cd09280
    Location:115256
    RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts
    pfam01693
    Location:344
    Cauli_VI; Caulimovirus viroplasmin
  2. NM_001286837.3NP_001273766.1  ribonuclease H1 isoform 3

    See identical proteins and their annotated locations for NP_001273766.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the 5' region, which results in translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC108488, AK075490, AK096913, BC002973, DA532761, DA612116
    UniProtKB/TrEMBL
    B3KUD4
    Conserved Domains (1) summary
    cd09280
    Location:24165
    RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts
  3. NM_001378271.1NP_001365200.1  ribonuclease H1 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC108488
  4. NM_001378272.1NP_001365201.1  ribonuclease H1 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC108488
  5. NM_001378273.1NP_001365202.1  ribonuclease H1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC108488
  6. NM_002936.6NP_002927.2  ribonuclease H1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_002927.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes two isoforms due to the use of alternative translation initiation codons. The longer isoform (1) is derived from the upstream AUG start codon, while the shorter isoform (2) is derived from the downstream AUG start codon. This RefSeq represents the longer isoform (1), which is a mitochondrial protein (see details in PMID: 20823270).
    Source sequence(s)
    AC108488
    Consensus CDS
    CCDS1647.1
    UniProtKB/Swiss-Prot
    O60930
    UniProtKB/TrEMBL
    E5KN15
    Related
    ENSP00000313350.3, ENST00000315212.4
    Conserved Domains (2) summary
    cd09280
    Location:141282
    RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts
    pfam01693
    Location:2970
    Cauli_VI; Caulimovirus viroplasmin

RNA

  1. NR_148532.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108488
  2. NR_148533.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108488
  3. NR_148534.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108488
  4. NR_165465.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108488
  5. NR_165466.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108488
  6. NR_165467.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108488
  7. NR_165468.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC108488

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    3531813..3558367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_922674.1 RNA Sequence

  2. XR_922671.1 RNA Sequence

  3. XR_922670.1 RNA Sequence

  4. XR_922667.1 RNA Sequence

  5. XR_922666.1 RNA Sequence

  6. XR_922668.1 RNA Sequence

  7. XR_922665.1 RNA Sequence

  8. XR_922673.1 RNA Sequence

  9. XR_922672.1 RNA Sequence

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