Version 5.4
Homo sapiens Gene: RTEL1
Summary
InnateDB Gene IDBG-544022.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RTEL1
Gene Name regulator of telomere elongation helicase 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000258366
Encoded Proteins
IDBP-86837
Regulator of telomere elongation helicase 1
IDBP-86839
Regulator of telomere elongation helicase 1
IDBP-86847
Regulator of telomere elongation helicase 1
IDBP-86849
Regulator of telomere elongation helicase 1
IDBP-86851
Regulator of telomere elongation helicase 1
IDBP-381038
Regulator of telomere elongation helicase 1
IDBP-478485
Regulator of telomere elongation helicase 1
IDBP-475738
Regulator of telomere elongation helicase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary In mice, inactivation of the Rtel (regulator of telomere length) gene has been shown to cause chromosome breaks, fusions, and telomere loss. In addition, Rtel is required for telomere elongation. Therefore, the mouse Rtel gene regulates chromosome stability and telomere length. This gene is the human ortholog of the mouse Rtel gene, so its protein product may play similar roles in humans. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), generates a non-coding transcript. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:63657810-63696253
Strand Forward strand
Band q13.33
Transcripts
ENST00000370018 ENSP00000359035
ENST00000318100 ENSP00000322287
ENST00000356810 ENSP00000349265
ENST00000360203 ENSP00000353332
ENST00000370003 ENSP00000359020
ENST00000425905 ENSP00000388063
ENST00000508582 ENSP00000424307
ENST00000469728
ENST00000488316
ENST00000463361
ENST00000496816 ENSP00000425576
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0004003 ATP-dependent DNA helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008026 ATP-dependent helicase activity
GO:0016787 hydrolase activity
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0046872 metal ion binding
GO:0051539 4 iron, 4 sulfur cluster binding
Biological Process
GO:0000723 telomere maintenance
GO:0006139 nucleobase-containing compound metabolic process
GO:0006200 ATP catabolic process
GO:0006281 DNA repair
GO:0010569 regulation of double-strand break repair via homologous recombination
GO:0032508 DNA duplex unwinding
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000038685
View Gene Order
ENSBTAG00000021096
Not yet available
Pathways
NETPATH
REACTOME
REACT_160176
Cytosolic iron-sulfur cluster assembly pathway
REACT_111217
Metabolism pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q9NZ71
TrEMBL
UniProt Splice Variant
Entrez Gene 51750
UniGene Hs.743461
RefSeq NM_001283009 NM_001283010 NM_016434 NM_032957
HUGO HGNC:15888
OMIM 608833
CCDS CCDS63331 CCDS13530 CCDS13531 CCDS74751
HPRD 15281
IMGT
EMBL AB029011 AF217795 AF217796 AK000485 AK299332 AK302508 AK304798 AL080127 AL353715 CH471077
GenPept AAF33687 AAF35243 BAA83040 BAA91197 BAG61337 BAG63785 BAG65548 CAB45725 EAW75238 EAW75239 EAW75240 EAW75241 EAW75245
RNA Seq Atlas 51750

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca