| UniProt Protein Function: | RTEL1: ATP-dependent DNA helicase required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by promoting the disassembly of D loop recombination intermediates. Also required to regulate telomere length; probably due to its anti-recombinase function. Belongs to the helicase family. RAD3/XPD subfamily. 8 isoforms of the human protein are produced by alternative splicing.Protein type: EC 3.6.4.12; DNA repair, damage; HelicaseChromosomal Location of Human Ortholog: 20q13.3Cellular Component: nucleusMolecular Function: ATP-dependent DNA helicase activity; protein binding; DNA binding; 4 iron, 4 sulfur cluster binding; metal ion binding; ATP bindingBiological Process: DNA repair; telomere maintenance; DNA duplex unwindingDisease: Dyskeratosis Congenita, Autosomal Recessive, 5; Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-related, 3 |
| UniProt Protein Details: | |
| NCBI 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] |
| UniProt Code: | Q9NZ71 |
| NCBI GenInfo Identifier: | 545688900 |
| NCBI Gene ID: | 51750 |
| NCBI Accession: | NP_001269938.1 |
| UniProt Secondary Accession: | Q9NZ71,Q5JTV3, Q5JTV4, Q9BW37, Q9H402, A2A397, A2A398 B4DRM5, B4DYM3, B4E3N6 |
| UniProt Related Accession: | Q9NZ71 |
| Molecular Weight: | 133,683 Da |
| NCBI Full Name: | regulator of telomere elongation helicase 1 isoform 3 |
| NCBI Synonym Full Names: | regulator of telomere elongation helicase 1 |
| NCBI Official Symbol: | RTEL1Â Â |
| NCBI Official Synonym Symbols: | NHL; RTEL; DKCA4; DKCB5; C20orf41Â Â |
| NCBI Protein Information: | regulator of telomere elongation helicase 1; regulator of telomere length |
| UniProt Protein Name: | Regulator of telomere elongation helicase 1 |
| UniProt Synonym Protein Names: | Novel helicase-like |
| Protein Family: | Regulator of telomere elongation helicase |
| UniProt Gene Name: | RTEL1Â Â |
| UniProt Entry Name: | RTEL1_HUMAN |
