RTEL1 (regulator of telomere elongation helicase 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51750
Gene name Gene Name - the full gene name approved by the HGNC.
Regulator of telomere elongation helicase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RTEL1
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 w
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT040125 hsa-miR-615-3p CLASH 23622248
MIRT732881 hsa-miR-4530 Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting 33200790
MIRT2319887 hsa-miR-1207-5p CLIP-seq
MIRT2319888 hsa-miR-1285 CLIP-seq
MIRT2319889 hsa-miR-3187-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(75)
GO ID Ontology Definition Evidence Reference
GO:0000018 Process Regulation of DNA recombination IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000723 Process Telomere maintenance IEA
GO:0000723 Process Telomere maintenance IEA
GO:0000723 Process Telomere maintenance IMP 23453664
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608833 15888 ENSG00000258366
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NZ71
Protein name Regulator of telomere elongation helicase 1 (EC 5.6.2.-) (Novel helicase-like)
Protein 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 meio
PDB 7WU8 , 8P8H , 8YA8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06733 DEAD_2 111 → 272 DEAD_2 Family
PF13307 Helicase_C_2 545 → 731 Helicase C-terminal domain Domain
Sequence 
MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWR
EHLRDGISARKIAERAQGELFPDRALSSWGNAAAAAGDPIACYTDIPKIIYASRTHSQLT
QVINELRNTSYRPKVCVLGSREQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVEE
KSLEQELASPILDIEDLVKSGSKHRVCPYYLSRNLKQQADIIFMPYNYLLDAKSRRAHNI
DLKGTVVIFDEAHNVEKMCEESASFDLTPHDLASGLDVIDQVLEEQTKAAQQGEPHPEFS
ADSPSPGLNMELEDIAKLKMILLRLEGAIDAVELPGDDSGVTKPGSYIFELFAEAQITFQ
TKGCILDSLDQIIQHLAGRAGVFTNTAGLQKLADIIQIVFSVDPSEGSPGSPAGLGALQS
YKVHIHPDAGHRRTAQRSDAWSTTAARKRGKVLSYWCFSPGHSMHELVRQGVRSLILTSG
TLAPVSSFALEMQIPFPVCLENPHIIDKHQIWVGVVPRGPDGAQLSSAFDRRFSEECLSS
LGKALGNIARVVPYGLLIFFPSYPVMEKSLEFWRARDLARKMEALKPLFVEPRSKGSFSE
TISAYYARVAAPGSTGATFLAVCRGKASEGLDFSDTNGRGVIVTGLPYPPRMDPRVVLKM
QFLDEMKGQGGAGGQFLSGQEWYRQQASRAVNQAIGRVIRHRQDYGAVFLCDHRFAFADA
RAQLPSWVRPHVRVYDNFGHVIRDVAQFFRVAERTMPAPAPRATAPSVRGEDAVSEAKSP
GPFFSTRKAKSLDLHVPSLKQRSSGSPAAGDPESSLCVEYEQEPVPARQRPRGLLAALEH
SEQRAGSPGEEQAHSCSTLSLLSEKRPAEEPRGGRKKIRLVSHPEEPVAGAQTDRAKLFM
VAVKQELSQANFATFTQALQDYKGSDDFAALAACLGPLFAEDPKKHNLLQGFYQFVRPHH
KQQFEEVCIQLTGRGCGYRPEHSIPRRQRAQPVLDPTGRTAPDPKLTVSTAAAQQLDPQE
HLNQGRPHLSPRPPPTGDPGSQPQWGSGVPRAGKQGQHAVSAYLADARRALGSAGCSQLL
AALTAYKQDDDLDKVLAVLAALTTAKPEDFPLLHRFSMFVRPHHKQRFSQTCTDLTGRPY
PGMEPPGPQEERLAVPPVLTHRAPQPGPSRSEKTGKTQSKISSFLRQRPAGTVGAGGEDA
GPSQSSGPPHGPAASEWGL
Sequence length 1219
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Telomere Extension By Telomerase
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Dyskeratosis Congenita dyskeratosis congenita, autosomal recessive 5, dyskeratosis congenita rs1555812834, rs1555899096, rs1555811742, rs398123017, rs1555814334, rs1555814044, rs1555903332, rs1555812228, rs980695424, rs377461417, rs1555812480, rs778734749, rs776744306, rs1421904176, rs1555901000
View all (26 more)		 N/A
Interstitial Lung Disease Interstitial lung disease 2 rs398123017, rs776744306, rs869312855, rs863225129, rs1555899640, rs201540674, rs776525427, rs748223349, rs863225053 N/A
Pulmonary Fibrosis pulmonary fibrosis rs1555903332, rs1555811762 N/A
Pulmonary fibrosis and/or bone marrow failure pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 rs863225053, rs398123017, rs776744306, rs1555811762 N/A
Show/Hide Unknown Diseases (17)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma, Age of onset of childhood onset asthma N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Show/Hide Text Mining Associations (63)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29924316
Adrenocortical Carcinoma Associate 35279598
Alveolitis Extrinsic Allergic Associate 31268371
Anemia Aplastic Associate 29344583
Astrocytoma Associate 21203894, 23812731, 26014354
Atrophy Associate 30823891
Autoimmune Diseases Associate 37328761
Bone Marrow Failure Disorders Associate 23329068, 29344583
Bone Marrow Failure Disorders Inhibit 24561255
Brain Neoplasms Associate 23115063, 26014354, 26839018, 28360516