RTEL1
entrez
51750
canonical
uniprot
Q9NZ71
canonical
ensembl
ENSG00000258366
resolver
ensp
ENSP00000322287
resolver
ensp
ENSP00000353332
resolver
ensp
ENSP00000359035
resolver
ensp
ENSP00000424307
resolver
genesymbol
RTEL1
resolver
genesymbol_syn
C20orf41
resolver
genesymbol_syn
KIAA1088
resolver
genesymbol_syn
NHL
resolver
hgnc
HGNC:15888
resolver
uniprot
A2A397
resolver
uniprot
A2A398
resolver
uniprot
B4DRM5
resolver
uniprot
B4DYM3
resolver
uniprot
B4E3N6
resolver
uniprot
E1P5J4
resolver
uniprot
E1P5J5
resolver
uniprot
Q5JTV3
resolver
uniprot
Q5JTV4
resolver
uniprot
Q9BW37
resolver
uniprot
Q9H402
resolver
uniprot
Q9H4X6
resolver
uniprot
Q9NX25
resolver
uniprot
Q9NZ73
resolver
uniprot
Q9UPR4
resolver
uniprot
Q9Y4R6
resolver
uniprot
R4IXY3
resolver
uniprot_entry
R4IXY3_HUMAN
resolver
uniprot_entry
RTEL1_HUMAN
resolver
uniprot_sec
A2A397
resolver
uniprot_sec
A2A398
resolver
uniprot_sec
B4DRM5
resolver
uniprot_sec
B4DYM3
resolver
uniprot_sec
B4E3N6
resolver
uniprot_sec
E1P5J4
resolver
uniprot_sec
E1P5J5
resolver
uniprot_sec
Q5JTV3
resolver
uniprot_sec
Q5JTV4
resolver
uniprot_sec
Q9BW37
resolver
uniprot_sec
Q9H402
resolver
uniprot_sec
Q9H4X6
resolver
uniprot_sec
Q9NX25
resolver
uniprot_sec
Q9NZ73
resolver
uniprot_sec
Q9UPR4
resolver
uniprot_sec
Q9Y4R6
resolver
amino_acid_sequence
MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWREHLRDGISARKIAERAQGELFPDRALSSWGNAAAAAGDPIACYTDIPKIIYASRTHSQLTQVINELRNTSYRPKVCVLGSREQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVEEKSLEQELASPILDIEDLVKSGSKHRVCPYYLSRNLKQQADIIFMPYNYLLDAKSRRAHNIDLKGTVVIFDEAHNVEKMCEESASFDLTPHDLASGLDVIDQVLEEQTKAAQQGEPHPEFSADSPSPGLNMELEDIAKLKMILLRLEGAIDAVELPGDDSGVTKPGSYIFELFAEAQITFQTKGCILDSLDQIIQHLAGRAGVFTNTAGLQKLADIIQIVFSVDPSEGSPGSPAGLGALQSYKVHIHPDAGHRRTAQRSDAWSTTAARKRGKVLSYWCFSPGHSMHELVRQGVRSLILTSGTLAPVSSFALEMQIPFPVCLENPHIIDKHQIWVGVVPRGPDGAQLSSAFDRRFSEECLSSLGKALGNIARVVPYGLLIFFPSYPVMEKSLEFWRARDLARKMEALKPLFVEPRSKGSFSETISAYYARVAAPGSTGATFLAVCRGKASEGLDFSDTNGRGVIVTGLPYPPRMDPRVVLKMQFLDEMKGQGGAGGQFLSGQEWYRQQASRAVNQAIGRVIRHRQDYGAVFLCDHRFAFADARAQLPSWVRPHVRVYDNFGHVIRDVAQFFRVAERTMPAPAPRATAPSVRGEDAVSEAKSPGPFFSTRKAKSLDLHVPSLKQRSSGSPAAGDPESSLCVEYEQEPVPARQRPRGLLAALEHSEQRAGSPGEEQAHSCSTLSLLSEKRPAEEPRGGRKKIRLVSHPEEPVAGAQTDRAKLFMVAVKQELSQANFATFTQALQDYKGSDDFAALAACLGPLFAEDPKKHNLLQGFYQFVRPHHKQQFEEVCIQLTGRGCGYRPEHSIPRRQRAQPVLDPTGRTAPDPKLTVSTAAAQQLDPQEHLNQGRPHLSPRPPPTGDPGSQPQWGSGVPRAGKQGQHAVSAYLADARRALGSAGCSQLLAALTAYKQDDDLDKVLAVLAALTTAKPEDFPLLHRFSMFVRPHHKQRFSQTCTDLTGRPYPGMEPPGPQEERLAVPPVLTHRAPQPGPSRSEKTGKTQSKISSFLRQRPAGTVGAGGEDAGPSQSSGPPHGPAASEWGL
uniprot
proteins
disease_involvement
DISEASE: Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. {ECO:0000269|PubMed:23329068, ECO:0000269|PubMed:23453664, ECO:0000269|PubMed:23591994, ECO:0000269|PubMed:23959892, ECO:0000269|PubMed:24009516}. Note=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). {ECO:0000269|PubMed:23329068}.; DISEASE: Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:23329068}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3 (PFBMFT3) [MIM:616373]: An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. {ECO:0000269|PubMed:25848748}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.6.2.-
uniprot
proteins
function
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. {ECO:0000255|HAMAP-Rule:MF_03065, ECO:0000269|PubMed:18957201, ECO:0000269|PubMed:23453664, ECO:0000269|PubMed:24009516}.
uniprot
proteins
mass_dalton
133683
uniprot
proteins
mutagenesis
MUTAGEN 48; /note="K->R: Abolishes ATPase activity."; /evidence="ECO:0000269|PubMed:18957201
uniprot
proteins
protein_family
Helicase family
uniprot
proteins
protein_family
RAD3/XPD subfamily
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
10655513
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18957201
uniprot
proteins
pubmed
22678361
uniprot
proteins
pubmed
23329068
uniprot
proteins
pubmed
23453664
uniprot
proteins
pubmed
23585563
uniprot
proteins
pubmed
23591994
uniprot
proteins
pubmed
23959892
uniprot
proteins
pubmed
24009516
uniprot
proteins
pubmed
25848748
uniprot
proteins
sequence_length
1219
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03065, ECO:0000269|PubMed:23585563}. Note=Colocalizes with PCNA within the replication foci in S-phase cells. {ECO:0000255|HAMAP-Rule:MF_03065}.
uniprot
proteins