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Protein

ATP-dependent DNA helicase Q5

Gene

RECQL5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination.7 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi52 – 59ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHelicase, Hydrolase
Biological processCell cycle, Cell division, DNA damage, DNA repair, DNA replication
LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-dependent DNA helicase Q5 (EC:3.6.4.12)
Alternative name(s):
DNA helicase, RecQ-like type 5
Short name:
RecQ5
RecQ protein-like 5
Gene namesi
Name:RECQL5
Synonyms:RECQ5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108469.14
HGNCiHGNC:9950 RECQL5
MIMi603781 gene
neXtProtiNX_O94762

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

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi157D → A: Abolishes helicase activity. 1
Mutagenesisi504W → A: Abolishes interaction with POLR2A. 1
Mutagenesisi508Y → A: Abolishes interaction with POLR2A. 1
Mutagenesisi515R → E: Abolishes interaction with POLR2A. 1
Mutagenesisi516K → E: Abolishes interaction with POLR2A. 1
Mutagenesisi550R → A: Impairs protein folding and abolishes interaction with POLR2A. 1 Publication1
Mutagenesisi552H → A: Abolishes interaction with POLR2A. 1
Mutagenesisi556L → E: Abolishes interaction with POLR2A. 1
Mutagenesisi584E → A or D: Abolishes interaction with POLR2A. 1 Publication1
Mutagenesisi597Y → A: Reduces interaction with POLR2A. 1 Publication1
Mutagenesisi598K → E: Abolishes interaction with POLR2A. 1
Mutagenesisi602L → D or E: Abolishes interaction with POLR2A. 1 Publication1
Mutagenesisi603K → E: Abolishes interaction with POLR2A. 1
Mutagenesisi666F → A: Abolishes interaction with RAD51. 1 Publication1

Organism-specific databases

DisGeNETi9400
OpenTargetsiENSG00000108469
PharmGKBiPA34317

Polymorphism and mutation databases

BioMutaiRECQL5

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002050551 – 991ATP-dependent DNA helicase Q5Add BLAST991

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei488PhosphoserineBy similarity1
Modified residuei491PhosphoserineCombined sources1
Modified residuei727PhosphoserineCombined sources1
Modified residuei815PhosphoserineCombined sources1
Modified residuei839PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO94762
MaxQBiO94762
PaxDbiO94762
PeptideAtlasiO94762
PRIDEiO94762
ProteomicsDBi50425
50426 [O94762-2]
50427 [O94762-3]

PTM databases

iPTMnetiO94762
PhosphoSitePlusiO94762

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000108469 Expressed in 164 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_RECQL5
ExpressionAtlasiO94762 baseline and differential
GenevisibleiO94762 HS

Organism-specific databases

HPAiHPA029971

Interactioni

Subunit structurei

Monomer. Interacts with TOP2A, TOP3A and TOP3B. Isoform beta interacts with RNA polymerase II subunit POLR2A. Identified in a complex with the RNA polymerase II core bound to DNA. Isoform beta interacts with RAD51.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
POLR2AP249288EBI-15710057,EBI-295301

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114797, 59 interactors
DIPiDIP-32964N
IntActiO94762, 32 interactors
STRINGi9606.ENSP00000317636

Structurei

Secondary structure

1991
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO94762
SMRiO94762
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini39 – 213Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST175
Domaini241 – 403Helicase C-terminalPROSITE-ProRule annotationAdd BLAST163

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni490 – 620Interaction with POLR2AAdd BLAST131
Regioni652 – 725Interaction with RAD51Add BLAST74

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi157 – 160DEAH box4

Sequence similaritiesi

Belongs to the helicase family. RecQ subfamily.Curated

Phylogenomic databases

eggNOGiKOG0352 Eukaryota
COG0514 LUCA
GeneTreeiENSGT00550000074520
HOGENOMiHOG000206773
HOVERGENiHBG061479
InParanoidiO94762
KOiK10902
OMAiKTCIGPS
OrthoDBiEOG091G03BU
PhylomeDBiO94762
TreeFamiTF317614

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR010716 RECQ5
IPR032284 RecQ_Zn-bd
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
PF06959 RecQ5, 1 hit
PF16124 RecQ_Zn_bind, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD120154 RecQ_helicase-like_5, 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
PS00690 DEAH_ATP_HELICASE, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform Beta (identifier: O94762-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MSSHHTTFPF DPERRVRSTL KKVFGFDSFK TPLQESATMA VVKGNKDVFV
60 70 80 90 100
CMPTGAGKSL CYQLPALLAK GITIVVSPLI ALIQDQVDHL LTLKVRVSSL
110 120 130 140 150
NSKLSAQERK ELLADLEREK PQTKILYITP EMAASSSFQP TLNSLVSRHL
160 170 180 190 200
LSYLVVDEAH CVSQWGHDFR PDYLRLGALR SRLGHAPCVA LTATATPQVQ
210 220 230 240 250
EDVFAALHLK KPVAIFKTPC FRANLFYDVQ FKELISDPYG NLKDFCLKAL
260 270 280 290 300
GQEADKGLSG CGIVYCRTRE ACEQLAIELS CRGVNAKAYH AGLKASERTL
310 320 330 340 350
VQNDWMEEKV PVIVATISFG MGVDKANVRF VAHWNIAKSM AGYYQESGRA
360 370 380 390 400
GRDGKPSWCR LYYSRNDRDQ VSFLIRKEVA KLQEKRGNKA SDKATIMAFD
410 420 430 440 450
ALVTFCEELG CRHAAIAKYF GDALPACAKG CDHCQNPTAV RRRLEALERS
460 470 480 490 500
SSWSKTCIGP SQGNGFDPEL YEGGRKGYGD FSRYDEGSGG SGDEGRDEAH
510 520 530 540 550
KREWNLFYQK QMQLRKGKDP KIEEFVPPDE NCPLKEASSR RIPRLTVKAR
560 570 580 590 600
EHCLRLLEEA LSSNRQSTRT ADEADLRAKA VELEHETFRN AKVANLYKAS
610 620 630 640 650
VLKKVADIHR ASKDGQPYDM GGSAKSCSAQ AEPPEPNEYD IPPASHVYSL
660 670 680 690 700
KPKRVGAGFP KGSCPFQTAT ELMETTRIRE QAPQPERGGE HEPPSRPCGL
710 720 730 740 750
LDEDGSEPLP GPRGEVPGGS AHYGGPSPEK KAKSSSGGSS LAKGRASKKQ
760 770 780 790 800
QLLATAAHKD SQSIARFFCR RVESPALLAS APEAEGACPS CEGVQGPPMA
810 820 830 840 850
PEKYTGEEDG AGGHSPAPPQ TEECLRERPS TCPPRDQGTP EVQPTPAKDT
860 870 880 890 900
WKGKRPRSQQ ENPESQPQKR PRPSAKPSVV AEVKGSVSAS EQGTLNPTAQ
910 920 930 940 950
DPFQLSAPGV SLKEAANVVV KCLTPFYKEG KFASKELFKG FARHLSHLLT
960 970 980 990
QKTSPGRSVK EEAQNLIRHF FHGRARCESE ADWHGLCGPQ R
Length:991
Mass (Da):108,858
Last modified:August 30, 2002 - v2
Checksum:i983668133DED865A
GO
Isoform Alpha (identifier: O94762-2) [UniParc]FASTAAdd to basket
Also known as: RecQ5b

The sequence of this isoform differs from the canonical sequence as follows:
     411-991: Missing.

Show »
Length:410
Mass (Da):45,679
Checksum:i4B3035ED9892A112
GO
Isoform Gamma (identifier: O94762-3) [UniParc]FASTAAdd to basket
Also known as: RecQ5a

The sequence of this isoform differs from the canonical sequence as follows:
     411-435: CRHAAIAKYFGDALPACAKGCDHCQ → RWGRGHGKSLRAAWCSQVVSRHAEL
     436-991: Missing.

Show »
Length:435
Mass (Da):48,509
Checksum:i00EC15408C5D09AA
GO
Isoform 4 (identifier: O94762-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-69: Missing.

Note: No experimental confirmation available.
Show »
Length:964
Mass (Da):106,051
Checksum:i333A7E6A073D1AF0
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KTQ2J3KTQ2_HUMAN
ATP-dependent DNA helicase
RECQL5
480Annotation score:
J3QLU0J3QLU0_HUMAN
ATP-dependent DNA helicase Q5
RECQL5
190Annotation score:
J3KSL7J3KSL7_HUMAN
ATP-dependent DNA helicase Q5
RECQL5
198Annotation score:
J3KSV9J3KSV9_HUMAN
ATP-dependent DNA helicase Q5
RECQL5
206Annotation score:
J3KRM6J3KRM6_HUMAN
ATP-dependent DNA helicase Q5
RECQL5
118Annotation score:
J3KS37J3KS37_HUMAN
ATP-dependent DNA helicase Q5
RECQL5
236Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024272480D → G. Corresponds to variant dbSNP:rs820196Ensembl.1
Natural variantiVAR_051733628S → N. Corresponds to variant dbSNP:rs35566780Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05743143 – 69Missing in isoform 4. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_005568411 – 991Missing in isoform Alpha. 3 PublicationsAdd BLAST581
Alternative sequenceiVSP_005569411 – 435CRHAA…CDHCQ → RWGRGHGKSLRAAWCSQVVS RHAEL in isoform Gamma. 3 PublicationsAdd BLAST25
Alternative sequenceiVSP_005570436 – 991Missing in isoform Gamma. 3 PublicationsAdd BLAST556

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006533 mRNA Translation: BAA74454.1
AF135183 mRNA Translation: AAD43061.1
AF135183 mRNA Translation: AAD43062.1
AB042823 mRNA Translation: BAA95952.1
AB042824 mRNA Translation: BAA95953.1
AB042825 mRNA Translation: BAA95954.1
AC087749 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89292.1
BC016911 mRNA Translation: AAH16911.1
BC063440 mRNA Translation: AAH63440.1
AL136869 mRNA Translation: CAB66803.3
CCDSiCCDS32735.1 [O94762-3]
CCDS42380.1 [O94762-1]
CCDS45777.1 [O94762-2]
RefSeqiNP_001003715.1, NM_001003715.3 [O94762-3]
NP_001003716.1, NM_001003716.3 [O94762-2]
NP_004250.4, NM_004259.6 [O94762-1]
XP_016880832.1, XM_017025343.1
XP_016880833.1, XM_017025344.1
UniGeneiHs.632229

Genome annotation databases

EnsembliENST00000317905; ENSP00000317636; ENSG00000108469 [O94762-1]
ENST00000340830; ENSP00000341983; ENSG00000108469 [O94762-3]
ENST00000420326; ENSP00000414933; ENSG00000108469 [O94762-2]
ENST00000423245; ENSP00000394820; ENSG00000108469 [O94762-4]
ENST00000584999; ENSP00000462248; ENSG00000108469 [O94762-3]
GeneIDi9400
KEGGihsa:9400
UCSCiuc002joz.5 human [O94762-1]
uc060jzt.1 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006533 mRNA Translation: BAA74454.1
AF135183 mRNA Translation: AAD43061.1
AF135183 mRNA Translation: AAD43062.1
AB042823 mRNA Translation: BAA95952.1
AB042824 mRNA Translation: BAA95953.1
AB042825 mRNA Translation: BAA95954.1
AC087749 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89292.1
BC016911 mRNA Translation: AAH16911.1
BC063440 mRNA Translation: AAH63440.1
AL136869 mRNA Translation: CAB66803.3
CCDSiCCDS32735.1 [O94762-3]
CCDS42380.1 [O94762-1]
CCDS45777.1 [O94762-2]
RefSeqiNP_001003715.1, NM_001003715.3 [O94762-3]
NP_001003716.1, NM_001003716.3 [O94762-2]
NP_004250.4, NM_004259.6 [O94762-1]
XP_016880832.1, XM_017025343.1
XP_016880833.1, XM_017025344.1
UniGeneiHs.632229

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BK0X-ray1.90A/B515-620[»]
5LB3X-ray1.80B/E11-453[»]
5LB5X-ray2.00A/B/C/D11-453[»]
5LB8X-ray3.40A/D11-526[»]
5LBAX-ray2.50A/B/C/D11-453[»]
ProteinModelPortaliO94762
SMRiO94762
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114797, 59 interactors
DIPiDIP-32964N
IntActiO94762, 32 interactors
STRINGi9606.ENSP00000317636

PTM databases

iPTMnetiO94762
PhosphoSitePlusiO94762

Polymorphism and mutation databases

BioMutaiRECQL5

Proteomic databases

EPDiO94762
MaxQBiO94762
PaxDbiO94762
PeptideAtlasiO94762
PRIDEiO94762
ProteomicsDBi50425
50426 [O94762-2]
50427 [O94762-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317905; ENSP00000317636; ENSG00000108469 [O94762-1]
ENST00000340830; ENSP00000341983; ENSG00000108469 [O94762-3]
ENST00000420326; ENSP00000414933; ENSG00000108469 [O94762-2]
ENST00000423245; ENSP00000394820; ENSG00000108469 [O94762-4]
ENST00000584999; ENSP00000462248; ENSG00000108469 [O94762-3]
GeneIDi9400
KEGGihsa:9400
UCSCiuc002joz.5 human [O94762-1]
uc060jzt.1 human

Organism-specific databases

CTDi9400
DisGeNETi9400
EuPathDBiHostDB:ENSG00000108469.14
GeneCardsiRECQL5
HGNCiHGNC:9950 RECQL5
HPAiHPA029971
MIMi603781 gene
neXtProtiNX_O94762
OpenTargetsiENSG00000108469
PharmGKBiPA34317
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0352 Eukaryota
COG0514 LUCA
GeneTreeiENSGT00550000074520
HOGENOMiHOG000206773
HOVERGENiHBG061479
InParanoidiO94762
KOiK10902
OMAiKTCIGPS
OrthoDBiEOG091G03BU
PhylomeDBiO94762
TreeFamiTF317614

Miscellaneous databases

ChiTaRSiRECQL5 human
GeneWikiiRECQL5
GenomeRNAii9400
PROiPR:O94762
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108469 Expressed in 164 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_RECQL5
ExpressionAtlasiO94762 baseline and differential
GenevisibleiO94762 HS

Family and domain databases

CDDicd00079 HELICc, 1 hit
InterProiView protein in InterPro
IPR011545 DEAD/DEAH_box_helicase_dom
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR004589 DNA_helicase_ATP-dep_RecQ
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR010716 RECQ5
IPR032284 RecQ_Zn-bd
PfamiView protein in Pfam
PF00270 DEAD, 1 hit
PF00271 Helicase_C, 1 hit
PF06959 RecQ5, 1 hit
PF16124 RecQ_Zn_bind, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD120154 RecQ_helicase-like_5, 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
PS00690 DEAH_ATP_HELICASE, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRECQ5_HUMAN
AccessioniPrimary (citable) accession number: O94762
Secondary accession number(s): Q6P4G0
, Q9H0B1, Q9P1W7, Q9UNC8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 30, 2002
Last modified: October 10, 2018
This is version 185 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, 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 chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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