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Protein

ATP-dependent DNA helicase Q4

Gene

RECQL4

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-dependent ATPase. May modulate chromosome segregation.1 Publication

<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 ‘Function’ 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 bindingi502 – 509ATPPROSITE-ProRule annotation8

<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

  • annealing helicase activity Source: UniProtKB
  • ATP binding Source: UniProtKB
  • ATP-dependent 3'-5' DNA helicase activity Source: UniProtKB
  • bubble DNA binding Source: UniProtKB
  • DNA binding Source: GO_Central
  • four-way junction helicase activity Source: GO_Central
  • helicase activity Source: BHF-UCL
  • oxidized purine DNA binding Source: BHF-UCL
  • single-stranded DNA binding Source: GO_Central
  • telomeric D-loop binding Source: BHF-UCL

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 functionHelicase, Hydrolase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O94761

<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 Q4 (EC:3.6.4.12)
Alternative name(s):
DNA helicase, RecQ-like type 4
Short name:
RecQ4
RTS
RecQ protein-like 4
<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:RECQL4
Synonyms:RECQ4
<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 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000160957.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9949 RECQL4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603780 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O94761

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, 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

Rothmund-Thomson syndrome (RTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.
See also OMIM:268400
RAPADILINO syndrome (RAPADILINOS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDisease characterized by radial and patellar aplasia or hypoplasia.
See also OMIM:266280
Baller-Gerold syndrome (BGS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.
See also OMIM:218600
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_0265911021R → W in BGS. 1 PublicationCorresponds to variant dbSNP:rs137853232EnsemblClinVar.1

Keywords - Diseasei

Cataract, Craniosynostosis, Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
9401

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

More...
GeneReviewsi
RECQL4

MalaCards human disease database

More...
MalaCardsi
RECQL4
MIMi218600 phenotype
266280 phenotype
268400 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000160957

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

More...
Orphaneti
1225 Baller-Gerold syndrome
3021 RAPADILINO syndrome
221016 Rothmund-Thomson syndrome type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34316

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RECQL4

<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_00002050531 – 1208ATP-dependent DNA helicase Q4Add BLAST1208

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 residuei27PhosphoserineCombined sources1
Modified residuei178PhosphoserineCombined sources1
Modified residuei180PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O94761

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O94761

PeptideAtlas

More...
PeptideAtlasi
O94761

PRoteomics IDEntifications database

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PRIDEi
O94761

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50424

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O94761

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

More...
PhosphoSitePlusi
O94761

<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

Ubiquitously expressed, with highest levels in thymus and testis.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated in actively dividing cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000160957 Expressed in 170 organ(s), highest expression level in lower esophagus mucosa

CleanEx database of gene expression profiles

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CleanExi
HS_RECQL4

Organism-specific databases

Human Protein Atlas

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HPAi
HPA025821

<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 UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity.2 Publications

<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

WithEntry#Exp.IntActNotes
TERF1P542742EBI-722861,EBI-710997

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114798, 30 interactors

Database of interacting proteins

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DIPi
DIP-48475N

Protein interaction database and analysis system

More...
IntActi
O94761, 9 interactors

<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

11208
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
2KMUNMR-A1-54[»]
5LSTX-ray2.75A427-1116[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O94761

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

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SMRi
O94761

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O94761

<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>Domaini489 – 662Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST174
Domaini683 – 850Helicase C-terminalPROSITE-ProRule annotationAdd BLAST168

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>Motifi605 – 608DEAH 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

Ensembl GeneTree

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GeneTreei
ENSGT00940000160387

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000264957

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG065925

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O94761

KEGG Orthology (KO)

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KOi
K10730

Identification of Orthologs from Complete Genome Data

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OMAi
MKQKRYV

Database of Orthologous Groups

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OrthoDBi
217854at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O94761

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00079 HELICc, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR021110 DNA_rep_checkpnt_protein
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00270 DEAD, 1 hit
PF11719 Drc1-Sld2, 1 hit
PF00271 Helicase_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

TIGRFAMs; a protein family database

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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>.<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 7 potential isoforms that are computationally mapped.Show allAlign All

O94761-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MERLRDVRER LQAWERAFRR QRGRRPSQDD VEAAPEETRA LYREYRTLKR
60 70 80 90 100
TTGQAGGGLR SSESLPAAAE EAPEPRCWGP HLNRAATKSP QSTPGRSRQG
110 120 130 140 150
SVPDYGQRLK ANLKGTLQAG PALGRRPWPL GRASSKASTP KPPGTGPVPS
160 170 180 190 200
FAEKVSDEPP QLPEPQPRPG RLQHLQASLS QRLGSLDPGW LQRCHSEVPD
210 220 230 240 250
FLGAPKACRP DLGSEESQLL IPGESAVLGP GAGSQGPEAS AFQEVSIRVG
260 270 280 290 300
SPQPSSSGGE KRRWNEEPWE SPAQVQQESS QAGPPSEGAG AVAVEEDPPG
310 320 330 340 350
EPVQAQPPQP CSSPSNPRYH GLSPSSQARA GKAEGTAPLH IFPRLARHDR
360 370 380 390 400
GNYVRLNMKQ KHYVRGRALR SRLLRKQAWK QKWRKKGECF GGGGATVTTK
410 420 430 440 450
ESCFLNEQFD HWAAQCPRPA SEEDTDAVGP EPLVPSPQPV PEVPSLDPTV
460 470 480 490 500
LPLYSLGPSG QLAETPAEVF QALEQLGHQA FRPGQERAVM RILSGISTLL
510 520 530 540 550
VLPTGAGKSL CYQLPALLYS RRSPCLTLVV SPLLSLMDDQ VSGLPPCLKA
560 570 580 590 600
ACIHSGMTRK QRESVLQKIR AAQVHVLMLT PEALVGAGGL PPAAQLPPVA
610 620 630 640 650
FACIDEAHCL SQWSHNFRPC YLRVCKVLRE RMGVHCFLGL TATATRRTAS
660 670 680 690 700
DVAQHLAVAE EPDLHGPAPV PTNLHLSVSM DRDTDQALLT LLQGKRFQNL
710 720 730 740 750
DSIIIYCNRR EDTERIAALL RTCLHAAWVP GSGGRAPKTT AEAYHAGMCS
760 770 780 790 800
RERRRVQRAF MQGQLRVVVA TVAFGMGLDR PDVRAVLHLG LPPSFESYVQ
810 820 830 840 850
AVGRAGRDGQ PAHCHLFLQP QGEDLRELRR HVHADSTDFL AVKRLVQRVF
860 870 880 890 900
PACTCTCTRP PSEQEGAVGG ERPVPKYPPQ EAEQLSHQAA PGPRRVCMGH
910 920 930 940 950
ERALPIQLTV QALDMPEEAI ETLLCYLELH PHHWLELLAT TYTHCRLNCP
960 970 980 990 1000
GGPAQLQALA HRCPPLAVCL AQQLPEDPGQ GSSSVEFDMV KLVDSMGWEL
1010 1020 1030 1040 1050
ASVRRALCQL QWDHEPRTGV RRGTGVLVEF SELAFHLRSP GDLTAEEKDQ
1060 1070 1080 1090 1100
ICDFLYGRVQ ARERQALARL RRTFQAFHSV AFPSCGPCLE QQDEERSTRL
1110 1120 1130 1140 1150
KDLLGRYFEE EEGQEPGGME DAQGPEPGQA RLQDWEDQVR CDIRQFLSLR
1160 1170 1180 1190 1200
PEEKFSSRAV ARIFHGIGSP CYPAQVYGQD RRFWRKYLHL SFHALVGLAT

EELLQVAR
Length:1,208
Mass (Da):133,067
Last modified:March 28, 2018 - 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:i7634BC134AD7FB4D
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X072A0A087X072_HUMAN
ATP-dependent DNA helicase Q4
RECQL4
851Annotation 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>
V9GYA3V9GYA3_HUMAN
ATP-dependent DNA helicase Q4
RECQL4
352Annotation 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>
V9GZ64V9GZ64_HUMAN
ATP-dependent DNA helicase Q4
RECQL4
389Annotation 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>
V9GYB6V9GYB6_HUMAN
ATP-dependent DNA helicase Q4
RECQL4
229Annotation 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>
A0A087WTJ0A0A087WTJ0_HUMAN
ATP-dependent DNA helicase Q4
RECQL4
293Annotation 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>
V9GY60V9GY60_HUMAN
ATP-dependent DNA helicase Q4
RECQL4
37Annotation 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>
V9GY28V9GY28_HUMAN
ATP-dependent DNA helicase Q4
RECQL4
15Annotation 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 AAH13277 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02511754Q → R1 PublicationCorresponds to variant dbSNP:rs35198096EnsemblClinVar.1
Natural variantiVAR_02511871E → G1 PublicationCorresponds to variant dbSNP:rs34642881EnsemblClinVar.1
Natural variantiVAR_02511992S → P3 PublicationsCorresponds to variant dbSNP:rs2721190Ensembl.1
Natural variantiVAR_025120189G → S1 PublicationCorresponds to variant dbSNP:rs34371341EnsemblClinVar.1
Natural variantiVAR_023295267E → D Common polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs4244612EnsemblClinVar.1
Natural variantiVAR_025121273A → T1 PublicationCorresponds to variant dbSNP:rs34103564EnsemblClinVar.1
Natural variantiVAR_025122301E → K1 PublicationCorresponds to variant dbSNP:rs34633809EnsemblClinVar.1
Natural variantiVAR_023296355R → Q1 PublicationCorresponds to variant dbSNP:rs374743591EnsemblClinVar.1
Natural variantiVAR_023297441P → S1 PublicationCorresponds to variant dbSNP:rs557142414EnsemblClinVar.1
Natural variantiVAR_025123522R → C1 PublicationCorresponds to variant dbSNP:rs35407712EnsemblClinVar.1
Natural variantiVAR_025124522R → H1 PublicationCorresponds to variant dbSNP:rs35842750EnsemblClinVar.1
Natural variantiVAR_026590523S → T1 PublicationCorresponds to variant dbSNP:rs754735053EnsemblClinVar.1
Natural variantiVAR_025125591P → L1 PublicationCorresponds to variant dbSNP:rs2721191EnsemblClinVar.1
Natural variantiVAR_057125793P → L. Corresponds to variant dbSNP:rs35098923EnsemblClinVar.1
Natural variantiVAR_025126793P → S1 PublicationCorresponds to variant dbSNP:rs35098923EnsemblClinVar.1
Natural variantiVAR_025127799V → M1 PublicationCorresponds to variant dbSNP:rs34293591EnsemblClinVar.1
Natural variantiVAR_023298857 – 858Missing . 2
Natural variantiVAR_025128964P → T1 PublicationCorresponds to variant dbSNP:rs33972310Ensembl.1
Natural variantiVAR_025129976E → K1 PublicationCorresponds to variant dbSNP:rs35070885EnsemblClinVar.1
Natural variantiVAR_0251301004R → W1 PublicationCorresponds to variant dbSNP:rs36023964EnsemblClinVar.1
Natural variantiVAR_0232991005R → Q2 PublicationsCorresponds to variant dbSNP:rs4251691EnsemblClinVar.1
Natural variantiVAR_0251311021R → Q1 PublicationCorresponds to variant dbSNP:rs34666647EnsemblClinVar.1
Natural variantiVAR_0265911021R → W in BGS. 1 PublicationCorresponds to variant dbSNP:rs137853232EnsemblClinVar.1
Natural variantiVAR_0571261043L → P. Corresponds to variant dbSNP:rs4925828Ensembl.1
Natural variantiVAR_0251321045A → T1 PublicationCorresponds to variant dbSNP:rs35348691EnsemblClinVar.1
Natural variantiVAR_0251331105G → D1 PublicationCorresponds to variant dbSNP:rs36078464EnsemblClinVar.1
Natural variantiVAR_0251341105G → S1 PublicationCorresponds to variant dbSNP:rs34915097EnsemblClinVar.1
Natural variantiVAR_0251351106R → H1 PublicationCorresponds to variant dbSNP:rs34236392EnsemblClinVar.1
Natural variantiVAR_0251361113G → R1 PublicationCorresponds to variant dbSNP:rs35101495EnsemblClinVar.1
Natural variantiVAR_0251371148S → F1 PublicationCorresponds to variant dbSNP:rs35346077EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB006532 mRNA Translation: BAA74453.1
AB026546 Genomic DNA Translation: BAA86899.1
DQ176868 Genomic DNA Translation: AAZ85145.1
AC084125 Genomic DNA No translation available.
KF495717 Genomic DNA No translation available.
BC011602 mRNA Translation: AAH11602.2
BC013277 mRNA Translation: AAH13277.2 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS75804.1

NCBI Reference Sequences

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RefSeqi
NP_004251.3, NM_004260.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.31442

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000617875; ENSP00000482313; ENSG00000160957

Database of genes from NCBI RefSeq genomes

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GeneIDi
9401

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9401

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
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006532 mRNA Translation: BAA74453.1
AB026546 Genomic DNA Translation: BAA86899.1
DQ176868 Genomic DNA Translation: AAZ85145.1
AC084125 Genomic DNA No translation available.
KF495717 Genomic DNA No translation available.
BC011602 mRNA Translation: AAH11602.2
BC013277 mRNA Translation: AAH13277.2 Different initiation.
CCDSiCCDS75804.1
RefSeqiNP_004251.3, NM_004260.3
UniGeneiHs.31442

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KMUNMR-A1-54[»]
5LSTX-ray2.75A427-1116[»]
ProteinModelPortaliO94761
SMRiO94761
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114798, 30 interactors
DIPiDIP-48475N
IntActiO94761, 9 interactors

PTM databases

iPTMnetiO94761
PhosphoSitePlusiO94761

Polymorphism and mutation databases

BioMutaiRECQL4

Proteomic databases

EPDiO94761
jPOSTiO94761
PeptideAtlasiO94761
PRIDEiO94761
ProteomicsDBi50424

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000617875; ENSP00000482313; ENSG00000160957
GeneIDi9401
KEGGihsa:9401

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9401
DisGeNETi9401
EuPathDBiHostDB:ENSG00000160957.12

GeneCards: human genes, protein and diseases

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GeneCardsi
RECQL4
GeneReviewsiRECQL4
HGNCiHGNC:9949 RECQL4
HPAiHPA025821
MalaCardsiRECQL4
MIMi218600 phenotype
266280 phenotype
268400 phenotype
603780 gene
neXtProtiNX_O94761
OpenTargetsiENSG00000160957
Orphaneti1225 Baller-Gerold syndrome
3021 RAPADILINO syndrome
221016 Rothmund-Thomson syndrome type 2
PharmGKBiPA34316

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00940000160387
HOGENOMiHOG000264957
HOVERGENiHBG065925
InParanoidiO94761
KOiK10730
OMAiMKQKRYV
OrthoDBi217854at2759
PhylomeDBiO94761

Enzyme and pathway databases

SIGNORiO94761

Miscellaneous databases

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

More...
ChiTaRSi
RECQL4 human
EvolutionaryTraceiO94761

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RECQL4

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

More...
GenomeRNAii
9401

Protein Ontology

More...
PROi
PR:O94761

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000160957 Expressed in 170 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_RECQL4

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR021110 DNA_rep_checkpnt_protein
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF11719 Drc1-Sld2, 1 hit
PF00271 Helicase_C, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
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

More...
ProtoNeti
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 nameiRECQ4_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: O94761
Secondary accession number(s): A0A087WZ30
, Q3Y424, Q96DW2, Q96F55
<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: May 30, 2000
Last sequence update: March 28, 2018
Last modified: January 16, 2019
This is version 178 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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