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Details on Person UniProt:Q9NZ71 RTEL1
| Class:Id | ReferenceGeneProduct:96291 |
|---|---|
| _chainChangeLog | chain:1-1219 added on Sat February 7 2015 |
| _displayName | UniProt:Q9NZ71 RTEL1 |
| _timestamp | 2025-02-21 19:32:17 |
| chain | chain:1-1219 |
| checksum | 28DFCFCC48BC0055 |
| comment | FUNCTION A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.CATALYTIC ACTIVITY ATP + H2O = ADP + phosphate + H(+)SUBUNIT Interacts with TERF1 (PubMed:23959892). Interacts (via PIP-box) with PCNA; the interaction is direct and essential for suppressing telomere fragility. Interacts with MMS19; the interaction mediates the association of RTEL1 with the cytosolic iron-sulfur protein assembly (CIA) complex (PubMed:22678361, PubMed:23585563).INTERACTION Colocalizes with PCNA within the replication foci in S-phase cells.ALTERNATIVE PRODUCTS Additional isoforms seem to exist.DOMAIN The PIP-box (PCNA interacting peptide) motif mediates the interaction with PCNA and localization to replication foci.DISEASE The disease is caused by variants affecting the gene represented in this entry. RTEL1 mutations have also been found in patients with a dyskeratosis congenita-like phenotype consisting of one feature of dyskeratosis congenita and short telomeres, in the absence of the typical DKC diagnostic triad (PubMed:23329068).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Amplified in gastric tumors.MISCELLANEOUS Variant in position: 1264:R->H (in DKCB5), abolishes activity.SIMILARITY Belongs to the helicase family. RAD3/XPD subfamily. |
| description | recommendedName: fullName evidence="1"Regulator of telomere elongation helicase 1 ecNumber evidence="1"5.6.2.- alternativeName: Novel helicase-like |
| geneName | RTEL1 C20orf41 KIAA1088 NHL |
| identifier | Q9NZ71 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure 4Fe-4S Alternative splicing ATP-binding Disease variant DNA damage DNA repair DNA-binding Dyskeratosis congenita Helicase Hydrolase Iron Iron-sulfur Isomerase Metal-binding Nucleotide-binding Nucleus Proteomics identification Reference proteome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | RTEL1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8995106] ENSEMBL:ENSG00000258366 RTEL1 [Homo sapiens] |
| secondaryIdentifier | RTEL1_HUMAN A2A397 A2A398 B4DRM5 B4DYM3 B4E3N6 E1P5J4 E1P5J5 Q5JTV3 Q5JTV4 Q9BW37 Q9H402 Q9H4X6 Q9NX25 Q9NZ73 Q9UPR4 Q9Y4R6 |
| sequenceLength | 1219 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:151045] UniProt:Q9NZ71-2 RTEL1 [Homo sapiens] [ReferenceIsoform:151047] UniProt:Q9NZ71-4 RTEL1 [Homo sapiens] [ReferenceIsoform:246723] UniProt:Q9NZ71-5 RTEL1 [Homo sapiens] [ReferenceIsoform:414935] UniProt:Q9NZ71-1 RTEL1 [Homo sapiens] [ReferenceIsoform:424710] UniProt:Q9NZ71-6 RTEL1 [Homo sapiens] [ReferenceIsoform:424711] UniProt:Q9NZ71-7 RTEL1 [Homo sapiens] [ReferenceIsoform:424712] UniProt:Q9NZ71-8 RTEL1 [Homo sapiens] [ReferenceIsoform:424713] UniProt:Q9NZ71-9 RTEL1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:2564769] RTEL1 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5686112] RTEL1 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q9NZ71 RTEL1 (96291)
