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
Regulator of telomere elongation helicase 1
Regulator of telomere elongation helicase 1
Regulator of telomere elongation helicase 1
Regulator of telomere elongation helicase 1
Regulator of telomere elongation helicase 1
Regulator of telomere elongation helicase 1
Regulator of telomere elongation helicase 1
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Cytosolic iron-sulfur cluster assembly pathway
Metabolism pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.743461
RefSeq NM_001283009 NM_001283010 NM_016434 NM_032957
HUGO
OMIM
CCDS CCDS13530 CCDS13531 CCDS63331 CCDS74751
HPRD 15281
IMGT
EMBL
GenPept
RNA Seq Atlas