RTEL1

RTEL1
Identifiers
Aliases	RTEL1, C20orf41, DKCA4, DKCB5, NHL, RTEL, PFBMFT3, regulator of telomere elongation helicase 1
External IDs	OMIM: 608833; MGI: 2139369; GeneCards: RTEL1
Gene location (Human) Chr. Chromosome 20 (human) Band 20q13.33 Start 63,657,810 bp End 63,696,253 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 H4 Start 180,961,532 bp End 180,998,409 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve right hemisphere of cerebellum pituitary gland gastric mucosa anterior pituitary body of uterus Descending thoracic aorta ascending aorta right lobe of thyroid gland muscle layer of sigmoid colon Top expressed in spermatocyte genital tubercle hand tail of embryo blastocyst ventricular zone morula neural layer of retina epiblast spermatid More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding protein binding ATP binding helicase activity hydrolase activity hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides DNA binding iron-sulfur cluster binding nucleic acid binding metal ion binding 4 iron, 4 sulfur cluster binding DNA helicase activity DNA polymerase binding Cellular component nucleoplasm nucleus telomere Biological process DNA duplex unwinding positive regulation of telomeric loop disassembly DNA recombination nucleobase-containing compound metabolic process positive regulation of telomere capping negative regulation of telomere maintenance in response to DNA damage DNA replication positive regulation of telomere maintenance mitotic telomere maintenance via semi-conservative replication cellular response to DNA damage stimulus telomere maintenance in response to DNA damage replication fork processing positive regulation of telomere maintenance via telomere lengthening telomere maintenance DNA repair regulation of double-strand break repair via homologous recombination strand displacement negative regulation of DNA recombination telomeric loop disassembly negative regulation of t-circle formation Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 51750 269400 Ensembl ENSG00000258366 ENSMUSG00000038685 UniProt Q9NZ71 Q0VGM9 RefSeq (mRNA) NM_032957 NM_001283009 NM_001283010 NM_016434 NM_015647 NM_001001882 NM_001166665 NM_001166666 NM_001166667 NM_001166668 NM_001363071 RefSeq (protein) NP_001269938 NP_001269939 NP_057518 NP_116575 NP_001001882 NP_001160137 NP_001160138 NP_001160139 NP_001160140 NP_001350000 Location (UCSC) Chr 20: 63.66 – 63.7 Mb Chr 2: 180.96 – 181 Mb PubMed search
Wikidata
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Regulator of telomere elongation helicase 1 is a protein that in humans is encoded by the RTEL1 gene.

Gene

Read-through transcription of the RTEL1 gene into the neighboring downstream TNFRSF6B gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms.

Function

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication.

Clinical significance

Mutations in this gene have been associated with dyskeratosis congenita and Hoyeraal–Hreidarsson syndrome.

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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