RNASEH1 ribonuclease H1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNASEH1provided by HGNC
Official Full Name: ribonuclease H1provided by HGNC
Primary source: HGNC:HGNC:18466
See related: Ensembl:ENSG00000171865 MIM:604123; AllianceGenome:HGNC:18466
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: mouse all
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Genomic context

Location:: 2p25.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (3531813..3558333, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (3554342..3580861, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (3579403..3605923, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNase H1 facilitates recombinase recruitment by degrading DNA-RNA hybrids during meiosis.
Title: RNase H1 facilitates recombinase recruitment by degrading DNA-RNA hybrids during meiosis.
A pan-cancer analysis of RNASEH1, a potential regulator of the tumor microenvironment.
Title: A pan-cancer analysis of RNASEH1, a potential regulator of the tumor microenvironment.
BRCA2 deficiency reveals that oxidative stress impairs RNaseH1 function to cripple mitochondrial DNA maintenance.
Title: BRCA2 deficiency reveals that oxidative stress impairs RNaseH1 function to cripple mitochondrial DNA maintenance.
A non-coding RNASEH1 gene variant associates with type 1 diabetes and interacts with HLA tagSNPs in families from Colombia.
Title: A non-coding RNASEH1 gene variant associates with type 1 diabetes and interacts with HLA tagSNPs in families from Colombia.
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
Title: Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
The protein-protein interaction between P54nrb and RNase H1 requires the spacer region of RNAse H1, while the P54nrb core domains are required for association with RNase H1.
Title: Kinetic and subcellular analysis of PS-ASO/protein interactions with P54nrb and RNase H1.
A second nuclease is therefore required to remove the last ribonucleotides and we demonstrate that Flap endonuclease 1 (FEN1) can execute this function in vitro. Removal of RNA primers at OriL thus depends on a two-nuclease model, which in addition to RNase H1 requires FEN1 or a FEN1-like activity. These findings define the role of RNase H1 at OriL and help to explain the pathogenic consequences of disease causing mutatio
Title: A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.
In combination with previously published in vivo data, the findings presented here suggest a model, in which R-loop processing by RNase H1 directs origin-specific initiation of DNA replication in human mitochondria.
Title: RNase H1 directs origin-specific initiation of DNA replication in human mitochondria.
RNASEH1 gene variants associate with susceptibility/protection to T1 Diabetes in Colombia.
Title: RNASEH1 gene variants are associated with autoimmune type 1 diabetes in Colombia.
Studies indicate that ribonuclease H1 is essential for mitochondrial DNA replication.
Title: Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MedGen: C4225312 OMIM: 616479 GeneReviews: Mitochondrial DNA Maintenance Defects Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	TAS Traceable Author Statement more info	PubMed
enables RNA nuclease activity	TAS Traceable Author Statement more info	PubMed
enables RNA-DNA hybrid ribonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA-DNA hybrid ribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA replication, removal of RNA primer	IBA Inferred from Biological aspect of Ancestor more info
involved_in RNA catabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: ribonuclease H1

Names: ribonuclease H type II

NP_001273763.1

EC 3.1.26.4

NP_001273766.1

EC 3.1.26.4

NP_001365200.1

EC 3.1.26.4

NP_001365201.1

EC 3.1.26.4

NP_001365202.1

EC 3.1.26.4

NP_002927.2

EC 3.1.26.4

NCBI Reference Sequences (RefSeq)

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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

NG_051310.1 RefSeqGene

Range

5039..21942

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1090

mRNA and Protein(s)

NM_001286834.3 → NP_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:115 → 256

RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts

pfam01693
Location:3 → 44

Cauli_VI; Caulimovirus viroplasmin
NM_001286837.3 → NP_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:24 → 165

RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts
NM_001378271.1 → NP_001365200.1 ribonuclease H1 isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AC108488

Conserved Domains (2) summary

cd09280
Location:141 → 259

RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts

pfam01693
Location:28 → 70

Cauli_VI; Caulimovirus viroplasmin
NM_001378272.1 → NP_001365201.1 ribonuclease H1 isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AC108488

Conserved Domains (2) summary

cd09280
Location:140 → 281

RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts

pfam01693
Location:28 → 70

Cauli_VI; Caulimovirus viroplasmin
NM_001378273.1 → NP_001365202.1 ribonuclease H1 isoform 6 precursor

Status: REVIEWED

Source sequence(s)

AC108488

Conserved Domains (2) summary

cd09280
Location:141 → 277

RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts

pfam01693
Location:28 → 70

Cauli_VI; Caulimovirus viroplasmin
NM_002936.6 → NP_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

B3KQU4, O60523, O60857, O60930, Q57Z93, Q5U0C1, Q6FHD4

UniProtKB/TrEMBL

E5KN15

Related

ENSP00000313350.3, ENST00000315212.4

Conserved Domains (2) summary

cd09280
Location:141 → 282

RNase_HI_eukaryote_like; Eukaryotic RNase H is essential and is longer and more complex than their prokaryotic counterparts

pfam01693
Location:29 → 70

Cauli_VI; Caulimovirus viroplasmin