UniProtKB - Q9NZ71 (RTEL1_HUMAN)
Regulator of telomere elongation helicase 1
RTEL1
Functioni
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.
UniRule annotation3 PublicationsMiscellaneous
Catalytic activityi
- EC:3.6.4.12UniRule annotation
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 145 | Iron-sulfur (4Fe-4S)UniRule annotation | 1 | |
Metal bindingi | 163 | Iron-sulfur (4Fe-4S)UniRule annotation | 1 | |
Metal bindingi | 172 | Iron-sulfur (4Fe-4S)UniRule annotation | 1 | |
Metal bindingi | 207 | Iron-sulfur (4Fe-4S)UniRule annotation | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 42 – 49 | ATPCurated | 8 |
GO - Molecular functioni
- 4 iron, 4 sulfur cluster binding Source: UniProtKB-UniRule
- ATP binding Source: UniProtKB
- ATP hydrolysis activity Source: RHEA
- DNA binding Source: UniProtKB-UniRule
- DNA helicase activity Source: UniProtKB
- DNA polymerase binding Source: GO_Central
- metal ion binding Source: UniProtKB-UniRule
GO - Biological processi
- DNA duplex unwinding Source: BHF-UCL
- DNA repair Source: UniProtKB-UniRule
- mitotic telomere maintenance via semi-conservative replication Source: BHF-UCL
- negative regulation of DNA recombination Source: BHF-UCL
- negative regulation of t-circle formation Source: BHF-UCL
- negative regulation of telomere maintenance in response to DNA damage Source: BHF-UCL
- positive regulation of telomere capping Source: BHF-UCL
- positive regulation of telomere maintenance Source: BHF-UCL
- positive regulation of telomere maintenance via telomere lengthening Source: BHF-UCL
- positive regulation of telomeric loop disassembly Source: BHF-UCL
- regulation of double-strand break repair via homologous recombination Source: UniProtKB
- replication fork processing Source: BHF-UCL
- strand displacement Source: BHF-UCL
- telomere maintenance Source: UniProtKB
- telomere maintenance in response to DNA damage Source: BHF-UCL
- telomeric loop disassembly Source: BHF-UCL
Keywordsi
Molecular function | DNA-binding, Helicase, Hydrolase |
Biological process | DNA damage, DNA repair |
Ligand | 4Fe-4S, ATP-binding, Iron, Iron-sulfur, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9NZ71 |
Reactomei | R-HSA-171319, Telomere Extension By Telomerase R-HSA-2564830, Cytosolic iron-sulfur cluster assembly R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) |
SignaLinki | Q9NZ71 |
Names & Taxonomyi
Protein namesi | Recommended name: Regulator of telomere elongation helicase 1UniRule annotation (EC:3.6.4.12UniRule annotation)Alternative name(s): Novel helicase-like |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15888, RTEL1 |
MIMi | 608833, gene |
neXtProti | NX_Q9NZ71 |
VEuPathDBi | HostDB:ENSG00000258366 |
Subcellular locationi
Nucleus
- Nucleus UniRule annotation1 Publication
Note: Colocalizes with PCNA within the replication foci in S-phase cells.UniRule annotation
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
Other locations
- chromosome, telomeric region Source: BHF-UCL
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_069714 | 251 | E → K in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123019EnsemblClinVar. | 1 | ||
Natural variantiVAR_069715 | 492 | M → I in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 2 PublicationsCorresponds to variant dbSNP:rs370343781EnsemblClinVar. | 1 | ||
Natural variantiVAR_069716 | 591 | E → D in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123051EnsemblClinVar. | 1 | ||
Natural variantiVAR_069719 | 699 | I → M in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123048EnsemblClinVar. | 1 | ||
Natural variantiVAR_069720 | 710 | L → R in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication | 1 | ||
Natural variantiVAR_069721 | 739 | G → V in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123016EnsemblClinVar. | 1 | ||
Natural variantiVAR_069722 | 745 | V → M in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123049EnsemblClinVar. | 1 | ||
Natural variantiVAR_069725 | 897 | K → E in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication | 1 | ||
Natural variantiVAR_069727 | 957 | R → W in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123018EnsemblClinVar. | 1 | ||
Natural variantiVAR_069728 | 964 | F → L in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs1470145133EnsemblClinVar. | 1 | ||
Isoform 5 (identifier: Q9NZ71-5) | |||||
Natural variantiVAR_082828 | 489 | C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication | 1 | ||
Natural variantiVAR_082829 | 509 | R → H in DKCB5, abolishes activity. 2 Publications | 1 | ||
Isoform 1 (identifier: Q9NZ71-2) | |||||
Natural variantiVAR_082827 | 1244 | C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication | 1 | ||
Isoform 6 (identifier: Q9NZ71-6) | |||||
Natural variantiVAR_082830 | 1244 | C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs587777037Ensembl. | 1 | ||
Natural variantiVAR_082831 | 1264 | R → H in DKCB5, abolishes activity. 1 PublicationCorresponds to variant dbSNP:rs201540674Ensembl. | 1 |
Dyskeratosis congenita, autosomal dominant, 4 (DKCA4)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069717 | 621 | A → T in DKCA4. 1 PublicationCorresponds to variant dbSNP:rs398123052EnsemblClinVar. | 1 |
Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 (PFBMFT3)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073795 | 484 | P → L in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs786205700EnsemblClinVar. | 1 | |
Natural variantiVAR_073796 | 647 | P → L in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs1177091623EnsemblClinVar. | 1 | |
Natural variantiVAR_073797 | 1124 | H → P in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs786205702EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 48 | K → R: Abolishes ATPase activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Dyskeratosis congenitaOrganism-specific databases
DisGeNETi | 51750 |
GeneReviewsi | RTEL1 |
MalaCardsi | RTEL1 |
MIMi | 615190, phenotype 616373, phenotype |
OpenTargetsi | ENSG00000258366 |
Orphaneti | 1775, Dyskeratosis congenita 3322, Hoyeraal-Hreidarsson syndrome 2032, Idiopathic pulmonary fibrosis |
PharmGKBi | PA134915625 |
Miscellaneous databases
Pharosi | Q9NZ71, Tbio |
Genetic variation databases
BioMutai | RTEL1 |
DMDMi | 229462743 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000101985 | 1 – 1219 | Regulator of telomere elongation helicase 1Add BLAST | 1219 |
Proteomic databases
EPDi | Q9NZ71 |
jPOSTi | Q9NZ71 |
MassIVEi | Q9NZ71 |
MaxQBi | Q9NZ71 |
PaxDbi | Q9NZ71 |
PeptideAtlasi | Q9NZ71 |
PRIDEi | Q9NZ71 |
ProteomicsDBi | 83330 [Q9NZ71-1] 83331 [Q9NZ71-2] 83332 [Q9NZ71-4] 83333 [Q9NZ71-5] 83334 [Q9NZ71-6] 83335 [Q9NZ71-7] 83336 [Q9NZ71-8] 83337 [Q9NZ71-9] |
PTM databases
iPTMneti | Q9NZ71 |
PhosphoSitePlusi | Q9NZ71 |
Expressioni
Gene expression databases
Bgeei | ENSG00000258366, Expressed in sural nerve and 114 other tissues |
ExpressionAtlasi | Q9NZ71, baseline and differential |
Genevisiblei | Q9NZ71, HS |
Organism-specific databases
HPAi | ENSG00000258366, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with TERF1.
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.
UniRule annotation3 PublicationsGO - Molecular functioni
- DNA polymerase binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 119711, 83 interactors |
IntActi | Q9NZ71, 29 interactors |
STRINGi | 9606.ENSP00000353332 |
Miscellaneous databases
RNActi | Q9NZ71, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 7 – 296 | Helicase ATP-bindingUniRule annotationAdd BLAST | 290 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 287 – 306 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 757 – 786 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 839 – 877 | DisorderedSequence analysisAdd BLAST | 39 | |
Regioni | 979 – 1005 | DisorderedSequence analysisAdd BLAST | 27 | |
Regioni | 1017 – 1054 | DisorderedSequence analysisAdd BLAST | 38 | |
Regioni | 1132 – 1151 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 1159 – 1219 | DisorderedSequence analysisAdd BLAST | 61 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 151 – 167 | Nuclear localization signalUniRule annotationAdd BLAST | 17 | |
Motifi | 250 – 253 | DEAH box | 4 | |
Motifi | 871 – 877 | Nuclear localization signalUniRule annotation | 7 | |
Motifi | 1178 – 1185 | PIP-box | 8 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 848 – 862 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 1170 – 1186 | Polar residuesSequence analysisAdd BLAST | 17 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1132, Eukaryota |
GeneTreei | ENSGT00950000182970 |
HOGENOMi | CLU_006515_4_0_1 |
InParanoidi | Q9NZ71 |
OrthoDBi | 1282784at2759 |
PhylomeDBi | Q9NZ71 |
Family and domain databases
Gene3Di | 3.40.50.300, 2 hits |
HAMAPi | MF_03065, RTEL1, 1 hit |
InterProi | View protein in InterPro IPR006555, ATP-dep_Helicase_C IPR010614, DEAD_2 IPR045028, DinG/Rad3-like IPR014013, Helic_SF1/SF2_ATP-bd_DinG/Rad3 IPR006554, Helicase-like_DEXD_c2 IPR027417, P-loop_NTPase IPR013020, Rad3/Chl1-like IPR030845, RTEL1 |
PANTHERi | PTHR11472, PTHR11472, 2 hits |
Pfami | View protein in Pfam PF06733, DEAD_2, 1 hit PF13307, Helicase_C_2, 1 hit |
SMARTi | View protein in SMART SM00488, DEXDc2, 1 hit SM00491, HELICc2, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
TIGRFAMsi | TIGR00604, rad3, 1 hit |
PROSITEi | View protein in PROSITE PS51193, HELICASE_ATP_BIND_2, 1 hit |
s (8+)i Sequence
Sequence statusi: Complete.
This entry describes 8 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 8 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL
60 70 80 90 100
CLLCTTLAWR EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI
110 120 130 140 150
ACYTDIPKII YASRTHSQLT QVINELRNTS YRPKVCVLGS REQLCIHPEV
160 170 180 190 200
KKQESNHLQI HLCRKKVASR SCHFYNNVEE KSLEQELASP ILDIEDLVKS
210 220 230 240 250
GSKHRVCPYY LSRNLKQQAD IIFMPYNYLL DAKSRRAHNI DLKGTVVIFD
260 270 280 290 300
EAHNVEKMCE ESASFDLTPH DLASGLDVID QVLEEQTKAA QQGEPHPEFS
310 320 330 340 350
ADSPSPGLNM ELEDIAKLKM ILLRLEGAID AVELPGDDSG VTKPGSYIFE
360 370 380 390 400
LFAEAQITFQ TKGCILDSLD QIIQHLAGRA GVFTNTAGLQ KLADIIQIVF
410 420 430 440 450
SVDPSEGSPG SPAGLGALQS YKVHIHPDAG HRRTAQRSDA WSTTAARKRG
460 470 480 490 500
KVLSYWCFSP GHSMHELVRQ GVRSLILTSG TLAPVSSFAL EMQIPFPVCL
510 520 530 540 550
ENPHIIDKHQ IWVGVVPRGP DGAQLSSAFD RRFSEECLSS LGKALGNIAR
560 570 580 590 600
VVPYGLLIFF PSYPVMEKSL EFWRARDLAR KMEALKPLFV EPRSKGSFSE
610 620 630 640 650
TISAYYARVA APGSTGATFL AVCRGKASEG LDFSDTNGRG VIVTGLPYPP
660 670 680 690 700
RMDPRVVLKM QFLDEMKGQG GAGGQFLSGQ EWYRQQASRA VNQAIGRVIR
710 720 730 740 750
HRQDYGAVFL CDHRFAFADA RAQLPSWVRP HVRVYDNFGH VIRDVAQFFR
760 770 780 790 800
VAERTMPAPA PRATAPSVRG EDAVSEAKSP GPFFSTRKAK SLDLHVPSLK
810 820 830 840 850
QRSSGSPAAG DPESSLCVEY EQEPVPARQR PRGLLAALEH SEQRAGSPGE
860 870 880 890 900
EQAHSCSTLS LLSEKRPAEE PRGGRKKIRL VSHPEEPVAG AQTDRAKLFM
910 920 930 940 950
VAVKQELSQA NFATFTQALQ DYKGSDDFAA LAACLGPLFA EDPKKHNLLQ
960 970 980 990 1000
GFYQFVRPHH KQQFEEVCIQ LTGRGCGYRP EHSIPRRQRA QPVLDPTGRT
1010 1020 1030 1040 1050
APDPKLTVST AAAQQLDPQE HLNQGRPHLS PRPPPTGDPG SQPQWGSGVP
1060 1070 1080 1090 1100
RAGKQGQHAV SAYLADARRA LGSAGCSQLL AALTAYKQDD DLDKVLAVLA
1110 1120 1130 1140 1150
ALTTAKPEDF PLLHRFSMFV RPHHKQRFSQ TCTDLTGRPY PGMEPPGPQE
1160 1170 1180 1190 1200
ERLAVPPVLT HRAPQPGPSR SEKTGKTQSK ISSFLRQRPA GTVGAGGEDA
1210
GPSQSSGPPH GPAASEWGL
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketX6RBZ7 | X6RBZ7_HUMAN | Regulator of telomere elongation he... | RTEL1 | 221 | Annotation score: | ||
X6R5I7 | X6R5I7_HUMAN | Regulator of telomere elongation he... | RTEL1 | 356 | Annotation score: | ||
A0A2R8YD56 | A0A2R8YD56_HUMAN | Regulator of telomere elongation he... | RTEL1 | 89 | Annotation score: | ||
A0A0C4DGC7 | A0A0C4DGC7_HUMAN | Regulator of telomere elongation he... | RTEL1 | 316 | Annotation score: | ||
A0A2R8Y7H5 | A0A2R8Y7H5_HUMAN | Regulator of telomere elongation he... | RTEL1 | 48 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 41 | E → G in BAG63785 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 48 | K → R in BAG61337 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 845 | A → V in BAG63785 (PubMed:14702039).Curated | 1 | ||
Sequence conflicti | 986 | R → Q in BAG61337 (PubMed:14702039).Curated | 1 | ||
Isoform 1 (identifier: Q9NZ71-2) | |||||
Sequence conflicti | 1352 | C → R in BAA83040 (PubMed:10470851).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_054970 | 124 | N → S1 PublicationCorresponds to variant dbSNP:rs3848668Ensembl. | 1 | ||
Natural variantiVAR_069714 | 251 | E → K in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123019EnsemblClinVar. | 1 | ||
Natural variantiVAR_073795 | 484 | P → L in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs786205700EnsemblClinVar. | 1 | ||
Natural variantiVAR_069715 | 492 | M → I in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 2 PublicationsCorresponds to variant dbSNP:rs370343781EnsemblClinVar. | 1 | ||
Natural variantiVAR_069716 | 591 | E → D in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123051EnsemblClinVar. | 1 | ||
Natural variantiVAR_069717 | 621 | A → T in DKCA4. 1 PublicationCorresponds to variant dbSNP:rs398123052EnsemblClinVar. | 1 | ||
Natural variantiVAR_073796 | 647 | P → L in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs1177091623EnsemblClinVar. | 1 | ||
Natural variantiVAR_069718 | 684 | R → Q1 PublicationCorresponds to variant dbSNP:rs35640778EnsemblClinVar. | 1 | ||
Natural variantiVAR_069719 | 699 | I → M in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123048EnsemblClinVar. | 1 | ||
Natural variantiVAR_069720 | 710 | L → R in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication | 1 | ||
Natural variantiVAR_069721 | 739 | G → V in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123016EnsemblClinVar. | 1 | ||
Natural variantiVAR_069722 | 745 | V → M in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123049EnsemblClinVar. | 1 | ||
Natural variantiVAR_069723 | 829 | Q → P1 Publication | 1 | ||
Natural variantiVAR_069724 | 849 | G → D1 PublicationCorresponds to variant dbSNP:rs190887884EnsemblClinVar. | 1 | ||
Natural variantiVAR_069725 | 897 | K → E in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication | 1 | ||
Natural variantiVAR_069726 | 929 | A → T2 PublicationsCorresponds to variant dbSNP:rs61736615EnsemblClinVar. | 1 | ||
Natural variantiVAR_069727 | 957 | R → W in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123018EnsemblClinVar. | 1 | ||
Natural variantiVAR_069728 | 964 | F → L in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs1470145133EnsemblClinVar. | 1 | ||
Natural variantiVAR_069729 | 1034 | P → H1 PublicationCorresponds to variant dbSNP:rs115610405EnsemblClinVar. | 1 | ||
Natural variantiVAR_054971 | 1042 | Q → H3 PublicationsCorresponds to variant dbSNP:rs3208008EnsemblClinVar. | 1 | ||
Natural variantiVAR_069730 | 1059 | A → T1 PublicationCorresponds to variant dbSNP:rs115303435EnsemblClinVar. | 1 | ||
Natural variantiVAR_073797 | 1124 | H → P in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs786205702EnsemblClinVar. | 1 | ||
Isoform 5 (identifier: Q9NZ71-5) | |||||
Natural variantiVAR_082828 | 489 | C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication | 1 | ||
Natural variantiVAR_082829 | 509 | R → H in DKCB5, abolishes activity. 2 Publications | 1 | ||
Isoform 1 (identifier: Q9NZ71-2) | |||||
Natural variantiVAR_082827 | 1244 | C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication | 1 | ||
Isoform 6 (identifier: Q9NZ71-6) | |||||
Natural variantiVAR_082830 | 1244 | C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs587777037Ensembl. | 1 | ||
Natural variantiVAR_082831 | 1264 | R → H in DKCB5, abolishes activity. 1 PublicationCorresponds to variant dbSNP:rs201540674Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017093 | 1 – 755 | Missing in isoform 5. 1 PublicationAdd BLAST | 755 | |
Alternative sequenceiVSP_036937 | 1 – 223 | Missing in isoform 9. 1 PublicationAdd BLAST | 223 | |
Alternative sequenceiVSP_036938 | 131 | Y → YRSRCRATLWVLETAPPRPT VLSPT in isoform 7. 1 Publication | 1 | |
Alternative sequenceiVSP_036939 | 998 – 1219 | GRTAP…SEWGL → ERRRIPS in isoform 8. 1 PublicationAdd BLAST | 222 | |
Alternative sequenceiVSP_007076 | 999 – 1023 | RTAPD…QEHLN → NFPDALDQLCGSTSLHQEER RRIPS in isoform 4. 1 PublicationAdd BLAST | 25 | |
Alternative sequenceiVSP_007077 | 1024 – 1219 | Missing in isoform 4. 1 PublicationAdd BLAST | 196 | |
Alternative sequenceiVSP_036940 | 1219 | L → EPHGRDIAGQQATGAPGGPL SAGCVCQGCGAEDVVPFQCP ACDFQRCQACWQRHLQASRM CPACHTASRKQSVMQVFWPE PHKDHEGAGGARPVAAVPGV GAACPAAGAGCTRSGRNTHL PLAGRRDRGAAGVCPVPPRH LCAAAVPPRQPHDVWPVSTA PLHAVLELPGALPLLQRPLR GA in isoform 1. 2 Publications | 1 | |
Alternative sequenceiVSP_017094 | 1219 | L → EPHGRDIAGQQATGAPGGPL SAGCVCQGCGAEDVVPFQCP ACDFQRCQACWQRHLQASRM CPACHTASRKQSVMQVFWPE PQ in isoform 5 and isoform 6. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF217795 mRNA Translation: AAF33687.1 AF217796 Genomic DNA Translation: AAF35243.1 AB029011 mRNA Translation: BAA83040.3 AK000485 mRNA Translation: BAA91197.1 AK302508 mRNA Translation: BAG63785.1 AK299332 mRNA Translation: BAG61337.1 AK304798 mRNA Translation: BAG65548.1 AL353715 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW75238.1 CH471077 Genomic DNA Translation: EAW75239.1 CH471077 Genomic DNA Translation: EAW75240.1 CH471077 Genomic DNA Translation: EAW75241.1 CH471077 Genomic DNA Translation: EAW75245.1 AL080127 mRNA Translation: CAB45725.1 |
CCDSi | CCDS13530.3 [Q9NZ71-7] CCDS13531.1 [Q9NZ71-1] CCDS63331.1 [Q9NZ71-6] CCDS74751.1 [Q9NZ71-9] |
PIRi | T12516 T45294 |
RefSeqi | NP_001269938.1, NM_001283009.1 [Q9NZ71-6] NP_001269939.1, NM_001283010.1 [Q9NZ71-9] NP_057518.1, NM_016434.3 [Q9NZ71-1] NP_116575.3, NM_032957.4 [Q9NZ71-7] |
Genome annotation databases
Ensembli | ENST00000318100; ENSP00000322287; ENSG00000258366 [Q9NZ71-9] ENST00000360203; ENSP00000353332; ENSG00000258366 [Q9NZ71-6] ENST00000370018; ENSP00000359035; ENSG00000258366 ENST00000482936; ENSP00000457868; ENSG00000258366 [Q9NZ71-8] ENST00000508582; ENSP00000424307; ENSG00000258366 [Q9NZ71-7] |
GeneIDi | 51750 |
KEGGi | hsa:51750 |
MANE-Selecti | ENST00000360203.11; ENSP00000353332.5; NM_001283009.2; NP_001269938.1 [Q9NZ71-6] |
UCSCi | uc002yfu.3, human [Q9NZ71-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF217795 mRNA Translation: AAF33687.1 AF217796 Genomic DNA Translation: AAF35243.1 AB029011 mRNA Translation: BAA83040.3 AK000485 mRNA Translation: BAA91197.1 AK302508 mRNA Translation: BAG63785.1 AK299332 mRNA Translation: BAG61337.1 AK304798 mRNA Translation: BAG65548.1 AL353715 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW75238.1 CH471077 Genomic DNA Translation: EAW75239.1 CH471077 Genomic DNA Translation: EAW75240.1 CH471077 Genomic DNA Translation: EAW75241.1 CH471077 Genomic DNA Translation: EAW75245.1 AL080127 mRNA Translation: CAB45725.1 |
CCDSi | CCDS13530.3 [Q9NZ71-7] CCDS13531.1 [Q9NZ71-1] CCDS63331.1 [Q9NZ71-6] CCDS74751.1 [Q9NZ71-9] |
PIRi | T12516 T45294 |
RefSeqi | NP_001269938.1, NM_001283009.1 [Q9NZ71-6] NP_001269939.1, NM_001283010.1 [Q9NZ71-9] NP_057518.1, NM_016434.3 [Q9NZ71-1] NP_116575.3, NM_032957.4 [Q9NZ71-7] |
3D structure databases
SMRi | Q9NZ71 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119711, 83 interactors |
IntActi | Q9NZ71, 29 interactors |
STRINGi | 9606.ENSP00000353332 |
PTM databases
iPTMneti | Q9NZ71 |
PhosphoSitePlusi | Q9NZ71 |
Genetic variation databases
BioMutai | RTEL1 |
DMDMi | 229462743 |
Proteomic databases
EPDi | Q9NZ71 |
jPOSTi | Q9NZ71 |
MassIVEi | Q9NZ71 |
MaxQBi | Q9NZ71 |
PaxDbi | Q9NZ71 |
PeptideAtlasi | Q9NZ71 |
PRIDEi | Q9NZ71 |
ProteomicsDBi | 83330 [Q9NZ71-1] 83331 [Q9NZ71-2] 83332 [Q9NZ71-4] 83333 [Q9NZ71-5] 83334 [Q9NZ71-6] 83335 [Q9NZ71-7] 83336 [Q9NZ71-8] 83337 [Q9NZ71-9] |
Protocols and materials databases
Antibodypediai | 58405, 153 antibodies from 25 providers |
DNASUi | 51750 |
Genome annotation databases
Ensembli | ENST00000318100; ENSP00000322287; ENSG00000258366 [Q9NZ71-9] ENST00000360203; ENSP00000353332; ENSG00000258366 [Q9NZ71-6] ENST00000370018; ENSP00000359035; ENSG00000258366 ENST00000482936; ENSP00000457868; ENSG00000258366 [Q9NZ71-8] ENST00000508582; ENSP00000424307; ENSG00000258366 [Q9NZ71-7] |
GeneIDi | 51750 |
KEGGi | hsa:51750 |
MANE-Selecti | ENST00000360203.11; ENSP00000353332.5; NM_001283009.2; NP_001269938.1 [Q9NZ71-6] |
UCSCi | uc002yfu.3, human [Q9NZ71-1] |
Organism-specific databases
CTDi | 51750 |
DisGeNETi | 51750 |
GeneCardsi | RTEL1 |
GeneReviewsi | RTEL1 |
HGNCi | HGNC:15888, RTEL1 |
HPAi | ENSG00000258366, Low tissue specificity |
MalaCardsi | RTEL1 |
MIMi | 608833, gene 615190, phenotype 616373, phenotype |
neXtProti | NX_Q9NZ71 |
OpenTargetsi | ENSG00000258366 |
Orphaneti | 1775, Dyskeratosis congenita 3322, Hoyeraal-Hreidarsson syndrome 2032, Idiopathic pulmonary fibrosis |
PharmGKBi | PA134915625 |
VEuPathDBi | HostDB:ENSG00000258366 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1132, Eukaryota |
GeneTreei | ENSGT00950000182970 |
HOGENOMi | CLU_006515_4_0_1 |
InParanoidi | Q9NZ71 |
OrthoDBi | 1282784at2759 |
PhylomeDBi | Q9NZ71 |
Enzyme and pathway databases
PathwayCommonsi | Q9NZ71 |
Reactomei | R-HSA-171319, Telomere Extension By Telomerase R-HSA-2564830, Cytosolic iron-sulfur cluster assembly R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) |
SignaLinki | Q9NZ71 |
Miscellaneous databases
BioGRID-ORCSi | 51750, 421 hits in 1049 CRISPR screens |
GenomeRNAii | 51750 |
Pharosi | Q9NZ71, Tbio |
PROi | PR:Q9NZ71 |
RNActi | Q9NZ71, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000258366, Expressed in sural nerve and 114 other tissues |
ExpressionAtlasi | Q9NZ71, baseline and differential |
Genevisiblei | Q9NZ71, HS |
Family and domain databases
Gene3Di | 3.40.50.300, 2 hits |
HAMAPi | MF_03065, RTEL1, 1 hit |
InterProi | View protein in InterPro IPR006555, ATP-dep_Helicase_C IPR010614, DEAD_2 IPR045028, DinG/Rad3-like IPR014013, Helic_SF1/SF2_ATP-bd_DinG/Rad3 IPR006554, Helicase-like_DEXD_c2 IPR027417, P-loop_NTPase IPR013020, Rad3/Chl1-like IPR030845, RTEL1 |
PANTHERi | PTHR11472, PTHR11472, 2 hits |
Pfami | View protein in Pfam PF06733, DEAD_2, 1 hit PF13307, Helicase_C_2, 1 hit |
SMARTi | View protein in SMART SM00488, DEXDc2, 1 hit SM00491, HELICc2, 1 hit |
SUPFAMi | SSF52540, SSF52540, 2 hits |
TIGRFAMsi | TIGR00604, rad3, 1 hit |
PROSITEi | View protein in PROSITE PS51193, HELICASE_ATP_BIND_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | RTEL1_HUMAN | |
Accessioni | Q9NZ71Primary (citable) accession number: Q9NZ71 Secondary accession number(s): A2A397 Q9Y4R6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 28, 2003 |
Last sequence update: | May 5, 2009 | |
Last modified: | February 23, 2022 | |
This is version 177 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families