Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:RNH1
gptkb:RNH |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:mitochondrial_DNA_depletion_syndrome
gptkb:progressive_external_ophthalmoplegia |
| gptkbp:discoveredBy |
1990s
|
| gptkbp:encodes |
ribonuclease H1
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000136104
246243 |
| gptkbp:expressedIn |
gptkb:nucleus
mitochondria |
| gptkbp:function |
degrades RNA in RNA-DNA hybrids
removes RNA primers from Okazaki fragments |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
10021
|
| https://www.w3.org/2000/01/rdf-schema#label |
RNASEH1
|
| gptkbp:length |
286 amino acids
|
| gptkbp:locatedOnChromosome |
chromosome 2
|
| gptkbp:mutationAssociatedWith |
mitochondrial dysfunction
|
| gptkbp:OMIM |
604607
|
| gptkbp:orthologInMouse |
Rnaseh1
|
| gptkbp:pathway |
DNA replication
mitochondrial genome maintenance |
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
gptkb:Q9Y2R2
|
| gptkbp:bfsParent |
gptkb:RNAse_H
gptkb:RNase_H |
| gptkbp:bfsLayer |
7
|