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Entry version 200 (16 Oct 2019)
Sequence version 3 (16 Dec 2008)
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Protein

ATP-dependent DNA helicase Q1

Gene

RECQL

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

DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction.3 Publications

<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

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 bindingi113 – 120ATPCurated8

<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
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.6.4.12 2681

<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:
ATP-dependent DNA helicase Q1 (EC:3.6.4.12)
Alternative name(s):
DNA helicase, RecQ-like type 1
Short name:
RecQ1
DNA-dependent ATPase Q1
RecQ protein-like 1
<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:RECQL
Synonyms:RECQ1, RECQL1
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9948 RECQL

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600537 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P46063

<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

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>Mutagenesisi119K → A: Abrogates helicase activity. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
5965

Open Targets

More...
OpenTargetsi
ENSG00000004700

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34315

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P46063

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1293236

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RECQL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
218512113

<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_00002050491 – 649ATP-dependent DNA helicase Q1Add BLAST649

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei514N6-acetyllysineCombined sources1
Modified residuei522N6-acetyllysineCombined sources1
Modified residuei597PhosphoserineCombined sources1
Modified residuei602PhosphoserineBy similarity1
Modified residuei634PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P46063

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P46063

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P46063

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P46063

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

More...
PaxDbi
P46063

PeptideAtlas

More...
PeptideAtlasi
P46063

PRoteomics IDEntifications database

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PRIDEi
P46063

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
55713

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
P46063

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P46063

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

More...
PhosphoSitePlusi
P46063

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P46063

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

High expression in heart, lung, skeletal muscle and kidney, low expression in brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000004700 Expressed in 233 organ(s), highest expression level in buccal mucosa cell

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P46063 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P46063 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB009743
HPA030960
HPA064259

<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 EXO1 and MLH1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111897, 43 interactors

Database of interacting proteins

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DIPi
DIP-29216N

Protein interaction database and analysis system

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IntActi
P46063, 36 interactors

Molecular INTeraction database

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MINTi
P46063

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000416739

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P46063

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1649
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P46063

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P46063

<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>Domaini100 – 275Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST176
Domaini300 – 451Helicase C-terminalPROSITE-ProRule annotationAdd BLAST152

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>Motifi219 – 222DEVH box4

<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. RecQ subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0351 Eukaryota
COG0514 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157013

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000044388

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P46063

KEGG Orthology (KO)

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KOi
K10899

Identification of Orthologs from Complete Genome Data

More...
OMAi
IKLCYVT

Database of Orthologous Groups

More...
OrthoDBi
445763at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P46063

TreeFam database of animal gene trees

More...
TreeFami
TF323555

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR032284 RecQ_Zn-bd
IPR036388 WH-like_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
PF16124 RecQ_Zn_bind, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 2 hits

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00614 recQ_fam, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 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>Sequence (1+)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 has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

P46063-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MASVSALTEE LDSITSELHA VEIQIQELTE RQQELIQKKK VLTKKIKQCL
60 70 80 90 100
EDSDAGASNE YDSSPAAWNK EDFPWSGKVK DILQNVFKLE KFRPLQLETI
110 120 130 140 150
NVTMAGKEVF LVMPTGGGKS LCYQLPALCS DGFTLVICPL ISLMEDQLMV
160 170 180 190 200
LKQLGISATM LNASSSKEHV KWVHAEMVNK NSELKLIYVT PEKIAKSKMF
210 220 230 240 250
MSRLEKAYEA RRFTRIAVDE VHCCSQWGHD FRPDYKALGI LKRQFPNASL
260 270 280 290 300
IGLTATATNH VLTDAQKILC IEKCFTFTAS FNRPNLYYEV RQKPSNTEDF
310 320 330 340 350
IEDIVKLING RYKGQSGIIY CFSQKDSEQV TVSLQNLGIH AGAYHANLEP
360 370 380 390 400
EDKTTVHRKW SANEIQVVVA TVAFGMGIDK PDVRFVIHHS MSKSMENYYQ
410 420 430 440 450
ESGRAGRDDM KADCILYYGF GDIFRISSMV VMENVGQQKL YEMVSYCQNI
460 470 480 490 500
SKCRRVLMAQ HFDEVWNSEA CNKMCDNCCK DSAFERKNIT EYCRDLIKIL
510 520 530 540 550
KQAEELNEKL TPLKLIDSWM GKGAAKLRVA GVVAPTLPRE DLEKIIAHFL
560 570 580 590 600
IQQYLKEDYS FTAYATISYL KIGPKANLLN NEAHAITMQV TKSTQNSFRA
610 620 630 640
ESSQTCHSEQ GDKKMEEKNS GNFQKKAANM LQQSGSKNTG AKKRKIDDA
Length:649
Mass (Da):73,457
Last modified:December 16, 2008 - v3
<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:iF616DC3191F79391
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WA66F8WA66_HUMAN
ATP-dependent DNA helicase Q1
RECQL
199Annotation 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>
F8WD97F8WD97_HUMAN
ATP-dependent DNA helicase Q1
RECQL
211Annotation 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>
F5H2L2F5H2L2_HUMAN
ATP-dependent DNA helicase Q1
RECQL
131Annotation 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>
F5GYB7F5GYB7_HUMAN
ATP-dependent DNA helicase Q1
RECQL
72Annotation 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>
F5H3W0F5H3W0_HUMAN
ATP-dependent DNA helicase Q1
RECQL
106Annotation 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>
F5H4P4F5H4P4_HUMAN
ATP-dependent DNA helicase Q1
RECQL
96Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA60261 differs from that shown. Reason: Frameshift.Curated

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 conflicti1M → S in BAA07200 (PubMed:7527136).Curated1
Sequence conflicti175A → D in AAA60261 (PubMed:7961977).Curated1
Sequence conflicti453C → S in AAA60261 (PubMed:7961977).Curated1
Sequence conflicti566T → A in AAA60261 (PubMed:7961977).Curated1
Sequence conflicti617E → K in AAP35783 (Ref. 3) Curated1
Sequence conflicti617E → K in AAH01052 (PubMed:15489334).Curated1

Natural variant

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_034679102V → I. Corresponds to variant dbSNP:rs1065751EnsemblClinVar.1
Natural variantiVAR_051732372V → I. Corresponds to variant dbSNP:rs2230003Ensembl.1
Natural variantiVAR_016140487K → T1 PublicationCorresponds to variant dbSNP:rs6501EnsemblClinVar.1
Natural variantiVAR_016141495D → H. Corresponds to variant dbSNP:rs6499EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L36140 mRNA Translation: AAA60261.1 Frameshift.
D37984 mRNA Translation: BAA07200.1
BT007119 mRNA Translation: AAP35783.1
AK291627 mRNA Translation: BAF84316.1
AC006559 Genomic DNA No translation available.
CH471094 Genomic DNA Translation: EAW96434.1
BC001052 mRNA Translation: AAH01052.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS31756.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A58836 A55311

NCBI Reference Sequences

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RefSeqi
NP_002898.2, NM_002907.3
NP_116559.1, NM_032941.2
XP_005253518.1, XM_005253461.3
XP_005253519.1, XM_005253462.4
XP_005253520.1, XM_005253463.3
XP_005253521.1, XM_005253464.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000421138; ENSP00000395449; ENSG00000004700
ENST00000444129; ENSP00000416739; ENSG00000004700

Database of genes from NCBI RefSeq genomes

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GeneIDi
5965

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5965

UCSC genome browser

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UCSCi
uc001rex.4 human

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L36140 mRNA Translation: AAA60261.1 Frameshift.
D37984 mRNA Translation: BAA07200.1
BT007119 mRNA Translation: AAP35783.1
AK291627 mRNA Translation: BAF84316.1
AC006559 Genomic DNA No translation available.
CH471094 Genomic DNA Translation: EAW96434.1
BC001052 mRNA Translation: AAH01052.1
CCDSiCCDS31756.1
PIRiA58836 A55311
RefSeqiNP_002898.2, NM_002907.3
NP_116559.1, NM_032941.2
XP_005253518.1, XM_005253461.3
XP_005253519.1, XM_005253462.4
XP_005253520.1, XM_005253463.3
XP_005253521.1, XM_005253464.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2V1XX-ray2.00A/B49-616[»]
2WWYX-ray2.90A/B49-616[»]
4U7DX-ray3.40A/B/C/D49-616[»]
SMRiP46063
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi111897, 43 interactors
DIPiDIP-29216N
IntActiP46063, 36 interactors
MINTiP46063
STRINGi9606.ENSP00000416739

Chemistry databases

BindingDBiP46063
ChEMBLiCHEMBL1293236

PTM databases

iPTMnetiP46063
PhosphoSitePlusiP46063
SwissPalmiP46063

Polymorphism and mutation databases

BioMutaiRECQL
DMDMi218512113

Proteomic databases

EPDiP46063
jPOSTiP46063
MassIVEiP46063
MaxQBiP46063
PaxDbiP46063
PeptideAtlasiP46063
PRIDEiP46063
ProteomicsDBi55713
TopDownProteomicsiP46063

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
5965

Genome annotation databases

EnsembliENST00000421138; ENSP00000395449; ENSG00000004700
ENST00000444129; ENSP00000416739; ENSG00000004700
GeneIDi5965
KEGGihsa:5965
UCSCiuc001rex.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5965
DisGeNETi5965

GeneCards: human genes, protein and diseases

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GeneCardsi
RECQL
HGNCiHGNC:9948 RECQL
HPAiCAB009743
HPA030960
HPA064259
MIMi600537 gene
neXtProtiNX_P46063
OpenTargetsiENSG00000004700
PharmGKBiPA34315

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0351 Eukaryota
COG0514 LUCA
GeneTreeiENSGT00940000157013
HOGENOMiHOG000044388
InParanoidiP46063
KOiK10899
OMAiIKLCYVT
OrthoDBi445763at2759
PhylomeDBiP46063
TreeFamiTF323555

Enzyme and pathway databases

BRENDAi3.6.4.12 2681

Miscellaneous databases

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

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ChiTaRSi
RECQL human
EvolutionaryTraceiP46063

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RECQL

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

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GenomeRNAii
5965
PharosiP46063

Protein Ontology

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PROi
PR:P46063

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000004700 Expressed in 233 organ(s), highest expression level in buccal mucosa cell
ExpressionAtlasiP46063 baseline and differential
GenevisibleiP46063 HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR032284 RecQ_Zn-bd
IPR036388 WH-like_DNA-bd_sf
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
PF16124 RecQ_Zn_bind, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
TIGRFAMsiTIGR00614 recQ_fam, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiRECQ1_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: P46063
Secondary accession number(s): A8K6G2
<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: November 1, 1995
Last sequence update: December 16, 2008
Last modified: October 16, 2019
This is version 200 of the entry and version 3 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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