Basic Information

Symbol
RTEL1
RNA class
mRNA
Alias
Regulator Of Telomere Elongation Helicase 1 NHL KIAA1088 C20orf41 RTEL DKFZP434C013 BK3184A7.3 Chromosome 20 Open Reading Frame 41 Regulator Of Telomere Length Novel Helicase-Like EC 5.6.2.- EC 3.6.1 PFBMFT3 DKCA4 DKCB5
Location (GRCh38)
20:63657810-63696253
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001283009.2
Sequence length
4615.0 nt
GC content
0.6236

Transcripts

ID Sequence Length GC content
NM_001283009.2 NCBI
GGAAGUGCAGUGGGCUCAGCGCCGACUGCGCGCCUCUGCCCGCGAAAAC… 4615 nt 0.6236
NM_001283010.1 NCBI
AGUCAGCCCUGCUGCCAGCCAGUGCCGGGUGCUGGGGACUCAGGGAGGC… 4691 nt 0.6280
NM_016434.4 NCBI
GGAAGUGCAGUGGGCUCAGCGCCGACUGCGCGCCUCUGCCCGCGAAAAC… 4445 nt 0.6214
NM_032957.5 NCBI
GGAAGUGCAGUGGGCUCAGCGCCGACUGCGCGCCUCUGCCCGCGAAAAC… 4517 nt 0.6221
Summary

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. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream 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. [provided by RefSeq, Sep 2013]

Forensic Context

No relevant information is available at the moment.