Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 162 (08 May 2019)
Sequence version 2 (05 May 2009)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Regulator of telomere elongation helicase 1

Gene

RTEL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

Miscellaneous

Amplified in gastric tumors.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi145Iron-sulfur (4Fe-4S)UniRule annotation1
Metal bindingi163Iron-sulfur (4Fe-4S)UniRule annotation1
Metal bindingi172Iron-sulfur (4Fe-4S)UniRule annotation1
Metal bindingi207Iron-sulfur (4Fe-4S)UniRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi42 – 49ATPCurated8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair
Ligand4Fe-4S, ATP-binding, Iron, Iron-sulfur, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2564830 Cytosolic iron-sulfur cluster assembly
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Regulator of telomere elongation helicase 1UniRule annotation (EC:3.6.4.12UniRule annotation)
Alternative name(s):
Novel helicase-like
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RTEL1UniRule annotation
Synonyms:C20orf41, KIAA1088, NHL
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15888 RTEL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608833 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZ71

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)5 Publications
The disease is caused by mutations 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).1 Publication
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069714251E → K in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123019Ensembl.1
Natural variantiVAR_069715492M → I in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 2 PublicationsCorresponds to variant dbSNP:rs370343781Ensembl.1
Natural variantiVAR_069716591E → D in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123051Ensembl.1
Natural variantiVAR_069719699I → M in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123048EnsemblClinVar.1
Natural variantiVAR_069720710L → R in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication1
Natural variantiVAR_069721739G → V in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123016Ensembl.1
Natural variantiVAR_069722745V → M in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123049EnsemblClinVar.1
Natural variantiVAR_069725897K → E in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication1
Natural variantiVAR_069727957R → W in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123018Ensembl.1
Natural variantiVAR_069728964F → L in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs1470145133Ensembl.1
Isoform 5 (identifier: Q9NZ71-5)
Natural varianti489C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1
Natural varianti509R → H in DKCB5, abolishes activity. 1
Isoform 1 (identifier: Q9NZ71-2)
Natural varianti1244C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. Curated1
Isoform 6 (identifier: Q9NZ71-6)
Natural varianti1244C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1
Natural varianti1264R → H in DKCB5, abolishes activity. 1
Dyskeratosis congenita, autosomal dominant, 4 (DKCA4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069717621A → T in DKCA4. 1 PublicationCorresponds to variant dbSNP:rs398123052Ensembl.1
Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 (PFBMFT3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073795484P → L in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs786205700Ensembl.1
Natural variantiVAR_073796647P → L in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs1177091623Ensembl.1
Natural variantiVAR_0737971124H → P in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs786205702Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi48K → R: Abolishes ATPase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita

Organism-specific databases

DisGeNET

More...
DisGeNETi
51750

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
RTEL1

MalaCards human disease database

More...
MalaCardsi
RTEL1
MIMi615190 phenotype
616373 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000258366

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1775 Dyskeratosis congenita
3322 Hoyeraal-Hreidarsson syndrome
2032 Idiopathic pulmonary fibrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134915625

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RTEL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
229462743

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001019851 – 1219Regulator of telomere elongation helicase 1Add BLAST1219

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NZ71

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NZ71

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NZ71

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NZ71

PeptideAtlas

More...
PeptideAtlasi
Q9NZ71

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZ71

ProteomicsDB human proteome resource

More...
ProteomicsDBi
83330
83331 [Q9NZ71-2]
83332 [Q9NZ71-4]
83333 [Q9NZ71-5]
83334 [Q9NZ71-6]
83335 [Q9NZ71-7]
83336 [Q9NZ71-8]
83337 [Q9NZ71-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZ71

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NZ71

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000258366 Expressed in 88 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NZ71 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZ71 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA020622
HPA067329
HPA078328

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119711, 51 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NZ71, 10 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000353332

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini7 – 296Helicase ATP-bindingUniRule annotationAdd BLAST290

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi151 – 167Nuclear localization signalUniRule annotationAdd BLAST17
Motifi250 – 253DEAH box4
Motifi871 – 877Nuclear localization signalUniRule annotation7
Motifi1178 – 1185PIP-box8

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PIP-box (PCNA interacting peptide) motif mediates the interaction with PCNA and localization to replication foci.UniRule annotation

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the helicase family. RAD3/XPD subfamily.UniRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1132 Eukaryota
COG1199 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182970

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NZ71

KEGG Orthology (KO)

More...
KOi
K11136

Database of Orthologous Groups

More...
OrthoDBi
1282784at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZ71

Family and domain databases

HAMAP database of protein families

More...
HAMAPi
MF_03065 RTEL1, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006555 ATP-dep_Helicase_C
IPR010614 DEAD_2
IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
IPR006554 Helicase-like_DEXD_c2
IPR027417 P-loop_NTPase
IPR013020 Rad3/Chl1-like
IPR030845 RTEL1

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06733 DEAD_2, 1 hit
PF13307 Helicase_C_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00488 DEXDc2, 1 hit
SM00491 HELICc2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 2 hits

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00604 rad3, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51193 HELICASE_ATP_BIND_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 8 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q9NZ71-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:1,219
Mass (Da):133,683
Last modified:May 5, 2009 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i28DFCFCC48BC0055
GO
Isoform 1 (identifier: Q9NZ71-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1219-1219: L → EPHGRDIAGQ...PLLQRPLRGA

Note: Variant in position: 1264:R->H (in DKCB5), abolishes activity.Curated
Show »
Length:1,400
Mass (Da):152,374
Checksum:iF3F2BB93D48ED3D9
GO
Isoform 4 (identifier: Q9NZ71-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     999-1023: RTAPDPKLTVSTAAAQQLDPQEHLN → NFPDALDQLCGSTSLHQEERRRIPS
     1024-1219: Missing.

Note: No experimental confirmation available.
Show »
Length:1,023
Mass (Da):113,184
Checksum:i43650D4EC91B6DEA
GO
Isoform 5 (identifier: Q9NZ71-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-755: Missing.
     1219-1219: L → EPHGRDIAGQ...VMQVFWPEPQ

Note: No experimental confirmation available.
Show »
Length:545
Mass (Da):58,545
Checksum:iA08763FAE15AE678
GO
Isoform 6 (identifier: Q9NZ71-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1219-1219: L → EPHGRDIAGQ...VMQVFWPEPQ

Note: No experimental confirmation available.
Show »
Length:1,300
Mass (Da):142,367
Checksum:iE2A1CD6CC3211479
GO
Isoform 7 (identifier: Q9NZ71-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     131-131: Y → YRSRCRATLWVLETAPPRPTVLSPT

Note: No experimental confirmation available.
Show »
Length:1,243
Mass (Da):136,373
Checksum:i5AFDE395097DDC14
GO
Isoform 8 (identifier: Q9NZ71-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     998-1219: GRTAPDPKLT...HGPAASEWGL → ERRRIPS

Note: No experimental confirmation available.
Show »
Length:1,004
Mass (Da):111,170
Checksum:iD3F25736F4CD034A
GO
Isoform 9 (identifier: Q9NZ71-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-223: Missing.

Note: No experimental confirmation available.
Show »
Length:996
Mass (Da):108,457
Checksum:i6CD391EF1A61C675
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6RBZ7X6RBZ7_HUMAN
Regulator of telomere elongation he...
RTEL1
221Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
X6R5I7X6R5I7_HUMAN
Regulator of telomere elongation he...
RTEL1
356Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YD56A0A2R8YD56_HUMAN
Regulator of telomere elongation he...
RTEL1
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGC7A0A0C4DGC7_HUMAN
Regulator of telomere elongation he...
RTEL1
316Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7H5A0A2R8Y7H5_HUMAN
Regulator of telomere elongation he...
RTEL1
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti41E → G in BAG63785 (PubMed:14702039).Curated1
Sequence conflicti48K → R in BAG61337 (PubMed:14702039).Curated1
Sequence conflicti845A → V in BAG63785 (PubMed:14702039).Curated1
Sequence conflicti986R → Q in BAG61337 (PubMed:14702039).Curated1
Isoform 1 (identifier: Q9NZ71-2)
Sequence conflicti1352C → R in BAA83040 (PubMed:10470851).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054970124N → S1 PublicationCorresponds to variant dbSNP:rs3848668Ensembl.1
Natural variantiVAR_069714251E → K in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123019Ensembl.1
Natural variantiVAR_073795484P → L in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs786205700Ensembl.1
Natural variantiVAR_069715492M → I in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 2 PublicationsCorresponds to variant dbSNP:rs370343781Ensembl.1
Natural variantiVAR_069716591E → D in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123051Ensembl.1
Natural variantiVAR_069717621A → T in DKCA4. 1 PublicationCorresponds to variant dbSNP:rs398123052Ensembl.1
Natural variantiVAR_073796647P → L in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs1177091623Ensembl.1
Natural variantiVAR_069718684R → Q1 PublicationCorresponds to variant dbSNP:rs35640778Ensembl.1
Natural variantiVAR_069719699I → M in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123048EnsemblClinVar.1
Natural variantiVAR_069720710L → R in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication1
Natural variantiVAR_069721739G → V in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123016Ensembl.1
Natural variantiVAR_069722745V → M in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123049EnsemblClinVar.1
Natural variantiVAR_069723829Q → P1 Publication1
Natural variantiVAR_069724849G → D1 PublicationCorresponds to variant dbSNP:rs190887884Ensembl.1
Natural variantiVAR_069725897K → E in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication1
Natural variantiVAR_069726929A → T2 PublicationsCorresponds to variant dbSNP:rs61736615Ensembl.1
Natural variantiVAR_069727957R → W in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs398123018Ensembl.1
Natural variantiVAR_069728964F → L in DKCB5; severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs1470145133Ensembl.1
Natural variantiVAR_0697291034P → H1 PublicationCorresponds to variant dbSNP:rs115610405Ensembl.1
Natural variantiVAR_0549711042Q → H3 PublicationsCorresponds to variant dbSNP:rs3208008Ensembl.1
Natural variantiVAR_0697301059A → T1 PublicationCorresponds to variant dbSNP:rs115303435Ensembl.1
Natural variantiVAR_0737971124H → P in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs786205702Ensembl.1
Isoform 5 (identifier: Q9NZ71-5)
Natural varianti489C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1
Natural varianti509R → H in DKCB5, abolishes activity. 1
Isoform 1 (identifier: Q9NZ71-2)
Natural varianti1244C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. Curated1
Isoform 6 (identifier: Q9NZ71-6)
Natural varianti1244C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1
Natural varianti1264R → H in DKCB5, abolishes activity. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0170931 – 755Missing in isoform 5. 1 PublicationAdd BLAST755
Alternative sequenceiVSP_0369371 – 223Missing in isoform 9. 1 PublicationAdd BLAST223
Alternative sequenceiVSP_036938131Y → YRSRCRATLWVLETAPPRPT VLSPT in isoform 7. 1 Publication1
Alternative sequenceiVSP_036939998 – 1219GRTAP…SEWGL → ERRRIPS in isoform 8. 1 PublicationAdd BLAST222
Alternative sequenceiVSP_007076999 – 1023RTAPD…QEHLN → NFPDALDQLCGSTSLHQEER RRIPS in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_0070771024 – 1219Missing in isoform 4. 1 PublicationAdd BLAST196
Alternative sequenceiVSP_0369401219L → EPHGRDIAGQQATGAPGGPL SAGCVCQGCGAEDVVPFQCP ACDFQRCQACWQRHLQASRM CPACHTASRKQSVMQVFWPE PHKDHEGAGGARPVAAVPGV GAACPAAGAGCTRSGRNTHL PLAGRRDRGAAGVCPVPPRH LCAAAVPPRQPHDVWPVSTA PLHAVLELPGALPLLQRPLR GA in isoform 1. 2 Publications1
Alternative sequenceiVSP_0170941219L → EPHGRDIAGQQATGAPGGPL SAGCVCQGCGAEDVVPFQCP ACDFQRCQACWQRHLQASRM CPACHTASRKQSVMQVFWPE PQ in isoform 5 and isoform 6. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13530.3 [Q9NZ71-7]
CCDS13531.1 [Q9NZ71-1]
CCDS63331.1 [Q9NZ71-6]
CCDS74751.1 [Q9NZ71-9]

Protein sequence database of the Protein Information Resource

More...
PIRi
T12516
T45294

NCBI Reference Sequences

More...
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

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000318100; ENSP00000322287; ENSG00000258366 [Q9NZ71-9]
ENST00000360203; ENSP00000353332; ENSG00000258366 [Q9NZ71-6]
ENST00000370018; ENSP00000359035; ENSG00000258366 [Q9NZ71-1]
ENST00000482936; ENSP00000457868; ENSG00000258366 [Q9NZ71-8]
ENST00000508582; ENSP00000424307; ENSG00000258366 [Q9NZ71-7]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51750

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51750

UCSC genome browser

More...
UCSCi
uc002yfu.3 human [Q9NZ71-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS13530.3 [Q9NZ71-7]
CCDS13531.1 [Q9NZ71-1]
CCDS63331.1 [Q9NZ71-6]
CCDS74751.1 [Q9NZ71-9]
PIRiT12516
T45294
RefSeqiNP_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

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi119711, 51 interactors
IntActiQ9NZ71, 10 interactors
STRINGi9606.ENSP00000353332

PTM databases

iPTMnetiQ9NZ71
PhosphoSitePlusiQ9NZ71

Polymorphism and mutation databases

BioMutaiRTEL1
DMDMi229462743

Proteomic databases

EPDiQ9NZ71
jPOSTiQ9NZ71
MaxQBiQ9NZ71
PaxDbiQ9NZ71
PeptideAtlasiQ9NZ71
PRIDEiQ9NZ71
ProteomicsDBi83330
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

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318100; ENSP00000322287; ENSG00000258366 [Q9NZ71-9]
ENST00000360203; ENSP00000353332; ENSG00000258366 [Q9NZ71-6]
ENST00000370018; ENSP00000359035; ENSG00000258366 [Q9NZ71-1]
ENST00000482936; ENSP00000457868; ENSG00000258366 [Q9NZ71-8]
ENST00000508582; ENSP00000424307; ENSG00000258366 [Q9NZ71-7]
GeneIDi51750
KEGGihsa:51750
UCSCiuc002yfu.3 human [Q9NZ71-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51750
DisGeNETi51750

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RTEL1
GeneReviewsiRTEL1
HGNCiHGNC:15888 RTEL1
HPAiHPA020622
HPA067329
HPA078328
MalaCardsiRTEL1
MIMi608833 gene
615190 phenotype
616373 phenotype
neXtProtiNX_Q9NZ71
OpenTargetsiENSG00000258366
Orphaneti1775 Dyskeratosis congenita
3322 Hoyeraal-Hreidarsson syndrome
2032 Idiopathic pulmonary fibrosis
PharmGKBiPA134915625

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1132 Eukaryota
COG1199 LUCA
GeneTreeiENSGT00950000182970
InParanoidiQ9NZ71
KOiK11136
OrthoDBi1282784at2759
PhylomeDBiQ9NZ71

Enzyme and pathway databases

ReactomeiR-HSA-2564830 Cytosolic iron-sulfur cluster assembly
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
RTEL1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
51750

Protein Ontology

More...
PROi
PR:Q9NZ71

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000258366 Expressed in 88 organ(s), highest expression level in right hemisphere of cerebellum
ExpressionAtlasiQ9NZ71 baseline and differential
GenevisibleiQ9NZ71 HS

Family and domain databases

HAMAPiMF_03065 RTEL1, 1 hit
InterProiView protein in InterPro
IPR006555 ATP-dep_Helicase_C
IPR010614 DEAD_2
IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
IPR006554 Helicase-like_DEXD_c2
IPR027417 P-loop_NTPase
IPR013020 Rad3/Chl1-like
IPR030845 RTEL1
PfamiView protein in Pfam
PF06733 DEAD_2, 1 hit
PF13307 Helicase_C_2, 1 hit
SMARTiView protein in SMART
SM00488 DEXDc2, 1 hit
SM00491 HELICc2, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
TIGRFAMsiTIGR00604 rad3, 1 hit
PROSITEiView protein in PROSITE
PS51193 HELICASE_ATP_BIND_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRTEL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NZ71
Secondary accession number(s): A2A397
, A2A398, B4DRM5, B4DYM3, B4E3N6, E1P5J4, E1P5J5, Q5JTV3, Q5JTV4, Q9BW37, Q9H402, Q9H4X6, Q9NX25, Q9NZ73, Q9UPR4, Q9Y4R6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: May 5, 2009
Last modified: May 8, 2019
This is version 162 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again