RTEL1

RTEL1
Identifiers
AliasesRTEL1, C20orf41, DKCA4, DKCB5, NHL, RTEL, PFBMFT3, regulator of telomere elongation helicase 1
External IDsOMIM: 608833; MGI: 2139369; GeneCards: RTEL1
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

51750

269400

Ensembl

ENSG00000258366

ENSMUSG00000038685

UniProt

Q9NZ71

Q0VGM9

RefSeq (mRNA)

NM_032957
NM_001283009
NM_001283010
NM_016434
NM_015647

RefSeq (protein)

NP_001269938
NP_001269939
NP_057518
NP_116575

Location (UCSC)Chr 20: 63.66 – 63.7 MbChr 2: 180.96 – 181 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Regulator of telomere elongation helicase 1 is a protein that in humans is encoded by the RTEL1 gene.[5]

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.[6]

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.[6]

Clinical significance

Mutations in this gene have been associated with dyskeratosis congenita and Hoyeraal–Hreidarsson syndrome.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000258366 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038685 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hourvitz N, Awad A, Tzfati Y (February 2024). "The many faces of the helicase RTEL1 at telomeres and beyond". Trends in Cell Biology. 34 (2): 109–121. doi:10.1016/j.tcb.2023.07.002. PMID 37532653.
  6. ^ a b c "RTEL1". Reference Sequence Collection; National Center for Biotechnology Information (NCBI). U.S. National Library of Medicine (NLM).

Further reading

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

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