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UniProtKB - Q9NZ71 (RTEL1_HUMAN)

Entry version 174 (07 Apr 2021)
Sequence version 2 (05 May 2009)
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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%5Fsection">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%5Fsection">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%5Fsection">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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NZ71

Reactome - a knowledgebase of biological pathways and processes

More...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)

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000258366.7

<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

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 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).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:rs398123051EnsemblClinVar.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 variantiVAR_082828489C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication1
Natural variantiVAR_082829509R → H in DKCB5, abolishes activity. 2 Publications1
Isoform 1 (identifier: Q9NZ71-2)
Natural variantiVAR_0828271244C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication1
Isoform 6 (identifier: Q9NZ71-6)
Natural variantiVAR_0828301244C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs587777037Ensembl.1
Natural variantiVAR_0828311264R → H in DKCB5, abolishes activity. 1 PublicationCorresponds to variant dbSNP:rs201540674Ensembl.1
Dyskeratosis congenita, autosomal dominant, 4 (DKCA4)1 Publication
The disease is caused by variants 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:rs398123052EnsemblClinVar.1
Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 (PFBMFT3)1 Publication
The disease is caused by variants 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:rs786205702EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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 variant, 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NZ71, Tbio

Genetic variation 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 or proteolytic cleavage.<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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		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: a multi-organism proteome resource

More...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

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 sural nerve and 113 other tissues

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		ENSG00000258366, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119711, 54 interactors

Protein interaction database and analysis system

More...IntActi		Q9NZ71, 29 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000353332

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NZ71, protein

<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%5Fand%5Fdomains%5Fsection">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

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182970

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_006515_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NZ71

Identification of Orthologs from Complete Genome Data

More...OMAi		AHFKVHI

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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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.

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

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

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

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

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.

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:rs398123051EnsemblClinVar.1
Natural variantiVAR_069717621A → T in DKCA4. 1 PublicationCorresponds to variant dbSNP:rs398123052EnsemblClinVar.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:rs61736615EnsemblClinVar.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:rs115303435EnsemblClinVar.1
Natural variantiVAR_0737971124H → P in PFBMFT3. 1 PublicationCorresponds to variant dbSNP:rs786205702EnsemblClinVar.1
Isoform 5 (identifier: Q9NZ71-5)
Natural variantiVAR_082828489C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication1
Natural variantiVAR_082829509R → H in DKCB5, abolishes activity. 2 Publications1
Isoform 1 (identifier: Q9NZ71-2)
Natural variantiVAR_0828271244C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 Publication1
Isoform 6 (identifier: Q9NZ71-6)
Natural variantiVAR_0828301244C → R in DKCB5, severe form consistent with Hoyeraal-Hreidarsson syndrome. 1 PublicationCorresponds to variant dbSNP:rs587777037Ensembl.1
Natural variantiVAR_0828311264R → H in DKCB5, abolishes activity. 1 PublicationCorresponds to variant dbSNP:rs201540674Ensembl.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

<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, 54 interactors
IntActiQ9NZ71, 29 interactors
STRINGi9606.ENSP00000353332

PTM databases

iPTMnetiQ9NZ71
PhosphoSitePlusiQ9NZ71

Genetic variation databases

BioMutaiRTEL1
DMDMi229462743

Proteomic databases

EPDiQ9NZ71
jPOSTiQ9NZ71
MassIVEiQ9NZ71
MaxQBiQ9NZ71
PaxDbiQ9NZ71
PeptideAtlasiQ9NZ71
PRIDEiQ9NZ71
ProteomicsDBi83330 [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

Antibodypedia a portal for validated antibodies

More...Antibodypediai		58405, 147 antibodies

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
HPAiENSG00000258366, Low tissue specificity
MalaCardsiRTEL1
MIMi608833, gene
615190, phenotype
616373, phenotype
neXtProtiNX_Q9NZ71
OpenTargetsiENSG00000258366
Orphaneti1775, Dyskeratosis congenita
3322, Hoyeraal-Hreidarsson syndrome
2032, Idiopathic pulmonary fibrosis
PharmGKBiPA134915625
VEuPathDBiHostDB:ENSG00000258366.7

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1132, Eukaryota
GeneTreeiENSGT00950000182970
HOGENOMiCLU_006515_4_0_1
InParanoidiQ9NZ71
OMAiAHFKVHI
OrthoDBi1282784at2759
PhylomeDBiQ9NZ71

Enzyme and pathway databases

PathwayCommonsiQ9NZ71
ReactomeiR-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)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51750, 417 hits in 997 CRISPR screens

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

More...GenomeRNAii		51750
PharosiQ9NZ71, Tbio

Protein Ontology

More...PROi		PR:Q9NZ71
RNActiQ9NZ71, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000258366, Expressed in sural nerve and 113 other tissues
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%5Fand%5Fisoforms">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: April 7, 2021
This is version 174 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

Reference proteome

Documents

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

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