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Protein

ATP-dependent DNA helicase Q1

Gene

RECQL

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

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

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi113 – 120ATPCurated8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Helicase, Hydrolase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi3.6.4.12 2681

Names & Taxonomyi

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
Gene namesi
Name:RECQL
Synonyms:RECQ1, RECQL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000004700.15
HGNCiHGNC:9948 RECQL
MIMi600537 gene
neXtProtiNX_P46063

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

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi119K → A: Abrogates helicase activity. 1 Publication1

Organism-specific databases

DisGeNETi5965
OpenTargetsiENSG00000004700
PharmGKBiPA34315

Chemistry databases

ChEMBLiCHEMBL1293236

Polymorphism and mutation databases

BioMutaiRECQL
DMDMi218512113

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002050491 – 649ATP-dependent DNA helicase Q1Add BLAST649

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei514N6-acetyllysineCombined sources1
Modified residuei522N6-acetyllysineCombined sources1
Modified residuei597PhosphoserineCombined sources1
Modified residuei602PhosphoserineBy similarity1
Modified residuei634PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP46063
MaxQBiP46063
PaxDbiP46063
PeptideAtlasiP46063
PRIDEiP46063
ProteomicsDBi55713
TopDownProteomicsiP46063

PTM databases

iPTMnetiP46063
PhosphoSitePlusiP46063
SwissPalmiP46063

Expressioni

Tissue specificityi

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

Gene expression databases

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

Organism-specific databases

HPAiCAB009743
HPA030960
HPA064259

Interactioni

Subunit structurei

Interacts with EXO1 and MLH1.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi111897, 35 interactors
DIPiDIP-29216N
IntActiP46063, 27 interactors
MINTiP46063
STRINGi9606.ENSP00000395449

Chemistry databases

BindingDBiP46063

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliP46063
SMRiP46063
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP46063

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini100 – 275Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST176
Domaini300 – 451Helicase C-terminalPROSITE-ProRule annotationAdd BLAST152

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi219 – 222DEVH box4

Sequence similaritiesi

Belongs to the helicase family. RecQ subfamily.Curated

Phylogenomic databases

eggNOGiKOG0351 Eukaryota
COG0514 LUCA
GeneTreeiENSGT00550000074520
HOGENOMiHOG000044388
HOVERGENiHBG057654
InParanoidiP46063
KOiK10899
OMAiESSQTCH
OrthoDBiEOG091G05Q8
PhylomeDBiP46063
TreeFamiTF323555

Family and domain databases

CDDicd00079 HELICc, 1 hit
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, 3 hits
TIGRFAMsiTIGR00614 recQ_fam, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.iShow 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
Checksum:iF616DC3191F79391
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WD97F8WD97_HUMAN
ATP-dependent DNA helicase Q1
RECQL
211Annotation score:
F8WA66F8WA66_HUMAN
ATP-dependent DNA helicase Q1
RECQL
199Annotation score:
F5H2L2F5H2L2_HUMAN
ATP-dependent DNA helicase Q1
RECQL
131Annotation score:
F5H3W0F5H3W0_HUMAN
ATP-dependent DNA helicase Q1
RECQL
106Annotation score:
F5GYB7F5GYB7_HUMAN
ATP-dependent DNA helicase Q1
RECQL
72Annotation score:
F5H4P4F5H4P4_HUMAN
ATP-dependent DNA helicase Q1
RECQL
96Annotation score:

Sequence cautioni

The sequence AAA60261 differs from that shown. Reason: Frameshift at positions 615 and 649.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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
UniGeneiHs.235069

Genome annotation databases

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

Keywords - Coding sequence diversityi

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
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
UniGeneiHs.235069

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2V1XX-ray2.00A/B49-616[»]
2WWYX-ray2.90A/B49-616[»]
4U7DX-ray3.40A/B/C/D49-616[»]
ProteinModelPortaliP46063
SMRiP46063
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111897, 35 interactors
DIPiDIP-29216N
IntActiP46063, 27 interactors
MINTiP46063
STRINGi9606.ENSP00000395449

Chemistry databases

BindingDBiP46063
ChEMBLiCHEMBL1293236

PTM databases

iPTMnetiP46063
PhosphoSitePlusiP46063
SwissPalmiP46063

Polymorphism and mutation databases

BioMutaiRECQL
DMDMi218512113

Proteomic databases

EPDiP46063
MaxQBiP46063
PaxDbiP46063
PeptideAtlasiP46063
PRIDEiP46063
ProteomicsDBi55713
TopDownProteomicsiP46063

Protocols and materials databases

DNASUi5965
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5965
DisGeNETi5965
EuPathDBiHostDB:ENSG00000004700.15
GeneCardsiRECQL
H-InvDBiHIX0010478
HGNCiHGNC:9948 RECQL
HPAiCAB009743
HPA030960
HPA064259
MIMi600537 gene
neXtProtiNX_P46063
OpenTargetsiENSG00000004700
PharmGKBiPA34315
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0351 Eukaryota
COG0514 LUCA
GeneTreeiENSGT00550000074520
HOGENOMiHOG000044388
HOVERGENiHBG057654
InParanoidiP46063
KOiK10899
OMAiESSQTCH
OrthoDBiEOG091G05Q8
PhylomeDBiP46063
TreeFamiTF323555

Enzyme and pathway databases

BRENDAi3.6.4.12 2681

Miscellaneous databases

ChiTaRSiRECQL human
EvolutionaryTraceiP46063
GeneWikiiRECQL
GenomeRNAii5965
PROiPR:P46063
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

CDDicd00079 HELICc, 1 hit
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, 3 hits
TIGRFAMsiTIGR00614 recQ_fam, 1 hit
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRECQ1_HUMAN
AccessioniPrimary (citable) accession number: P46063
Secondary accession number(s): A8K6G2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: December 16, 2008
Last modified: September 12, 2018
This is version 188 of the entry and version 3 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, Direct protein sequencing, Reference proteome
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Main funding by: National Institutes of Health

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