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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-Experimental evidence at protein leveli

Functioni

DNA-dependent ATPase. May modulate chromosome segregation.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi502 – 509ATPPROSITE-ProRule annotation8

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
  • four-way junction helicase activity Source: GO_Central
  • helicase activity Source: BHF-UCL
  • oxidized purine DNA binding Source: BHF-UCL
  • telomeric D-loop binding Source: BHF-UCL

GO - Biological processi

  • base-excision repair Source: GO_Central
  • DNA duplex unwinding Source: UniProtKB
  • DNA repair Source: ProtInc
  • DNA replication Source: UniProtKB
  • DNA strand renaturation Source: UniProtKB
  • double-strand break repair via homologous recombination Source: GO_Central
  • multicellular organism development Source: ProtInc
  • telomere maintenance Source: BHF-UCL
  • telomeric D-loop disassembly Source: BHF-UCL

Keywordsi

Molecular functionHelicase, Hydrolase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNORiO94761.

Names & Taxonomyi

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
Gene namesi
Name:RECQL4
Synonyms:RECQ4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:9949. RECQL4.

Subcellular locationi

  • Cytoplasm 1 Publication
  • Nucleus 1 Publication

GO - Cellular componenti

  • chromosome, telomeric region Source: BHF-UCL
  • cytoplasm Source: GO_Central
  • membrane Source: UniProtKB
  • nucleus Source: GO_Central

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

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
Natural variantiVAR_0265911021R → W in BGS. 1 Publication1

Keywords - Diseasei

Cataract, Craniosynostosis, Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi9401.
MalaCardsiRECQL4.
MIMi218600. phenotype.
266280. phenotype.
268400. phenotype.
Orphaneti1225. Baller-Gerold syndrome.
3021. RAPADILINO syndrome.
221016. Rothmund-Thomson syndrome type 2.
PharmGKBiPA34316.

Polymorphism and mutation databases

BioMutaiRECQL4.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002050531 – 1208ATP-dependent DNA helicase Q4Add BLAST1208

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei27PhosphoserineCombined sources1
Modified residuei178PhosphoserineCombined sources1
Modified residuei180PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO94761.
MaxQBiO94761.
PeptideAtlasiO94761.
PRIDEiO94761.

PTM databases

iPTMnetiO94761.
PhosphoSitePlusiO94761.

Expressioni

Tissue specificityi

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

Inductioni

Up-regulated in actively dividing cells.1 Publication

Gene expression databases

CleanExiHS_RECQL4.

Organism-specific databases

HPAiHPA025821.

Interactioni

Subunit structurei

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

Binary interactionsi

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

Protein-protein interaction databases

BioGridi114798. 26 interactors.
DIPiDIP-48475N.
IntActiO94761. 7 interactors.
MINTiMINT-1432307.

Structurei

Secondary structure

11208
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1 – 21Combined sources21
Helixi28 – 31Combined sources4
Helixi36 – 52Combined sources17

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiO94761.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini489 – 662Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST174
Domaini683 – 850Helicase C-terminalPROSITE-ProRule annotationAdd BLAST168

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi605 – 608DEAH box4

Sequence similaritiesi

Belongs to the helicase family. RecQ subfamily.Curated

Phylogenomic databases

HOGENOMiHOG000264957.
HOVERGENiHBG065925.
InParanoidiO94761.
KOiK10730.
PhylomeDBiO94761.

Family and domain databases

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.

Sequencei

Sequence statusi: Complete.

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 QPTPGRSRQG
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):133,077
Last modified:May 1, 1999 - v1
Checksum:iCB809A7765AB48A1
GO

Sequence cautioni

The sequence AAH13277 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02511754Q → R1 PublicationCorresponds to variant dbSNP:rs35198096Ensembl.1
Natural variantiVAR_02511871E → G1 PublicationCorresponds to variant dbSNP:rs34642881Ensembl.1
Natural variantiVAR_02511992P → S1 PublicationCorresponds to variant dbSNP:rs2721190Ensembl.1
Natural variantiVAR_025120189G → S1 PublicationCorresponds to variant dbSNP:rs34371341Ensembl.1
Natural variantiVAR_023295267E → D Common polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs4244612Ensembl.1
Natural variantiVAR_025121273A → T1 PublicationCorresponds to variant dbSNP:rs34103564Ensembl.1
Natural variantiVAR_025122301E → K1 PublicationCorresponds to variant dbSNP:rs34633809Ensembl.1
Natural variantiVAR_023296355R → Q1 Publication1
Natural variantiVAR_023297441P → S1 Publication1
Natural variantiVAR_025123522R → C1 PublicationCorresponds to variant dbSNP:rs35407712Ensembl.1
Natural variantiVAR_025124522R → H1 PublicationCorresponds to variant dbSNP:rs35842750Ensembl.1
Natural variantiVAR_026590523S → T1 Publication1
Natural variantiVAR_025125591P → L1 PublicationCorresponds to variant dbSNP:rs2721191Ensembl.1
Natural variantiVAR_057125793P → L. Corresponds to variant dbSNP:rs35098923Ensembl.1
Natural variantiVAR_025126793P → S1 PublicationCorresponds to variant dbSNP:rs35098923Ensembl.1
Natural variantiVAR_025127799V → M1 PublicationCorresponds to variant dbSNP:rs34293591Ensembl.1
Natural variantiVAR_023298857 – 858Missing . 2
Natural variantiVAR_025128964P → T1 PublicationCorresponds to variant dbSNP:rs33972310Ensembl.1
Natural variantiVAR_025129976E → K1 PublicationCorresponds to variant dbSNP:rs35070885Ensembl.1
Natural variantiVAR_0251301004R → W1 PublicationCorresponds to variant dbSNP:rs36023964Ensembl.1
Natural variantiVAR_0232991005R → Q2 PublicationsCorresponds to variant dbSNP:rs4251691Ensembl.1
Natural variantiVAR_0251311021R → Q1 PublicationCorresponds to variant dbSNP:rs34666647Ensembl.1
Natural variantiVAR_0265911021R → W in BGS. 1 Publication1
Natural variantiVAR_0571261043L → P. Corresponds to variant dbSNP:rs4925828Ensembl.1
Natural variantiVAR_0251321045A → T1 PublicationCorresponds to variant dbSNP:rs35348691Ensembl.1
Natural variantiVAR_0251331105G → D1 PublicationCorresponds to variant dbSNP:rs36078464Ensembl.1
Natural variantiVAR_0251341105G → S1 PublicationCorresponds to variant dbSNP:rs34915097Ensembl.1
Natural variantiVAR_0251351106R → H1 PublicationCorresponds to variant dbSNP:rs34236392Ensembl.1
Natural variantiVAR_0251361113G → R1 PublicationCorresponds to variant dbSNP:rs35101495Ensembl.1
Natural variantiVAR_0251371148S → F1 PublicationCorresponds to variant dbSNP:rs35346077Ensembl.1

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.
BC011602 mRNA. Translation: AAH11602.2.
BC013277 mRNA. Translation: AAH13277.2. Different initiation.
CCDSiCCDS75804.1.
RefSeqiNP_004251.3. NM_004260.3.
UniGeneiHs.31442.

Genome annotation databases

GeneIDi9401.
KEGGihsa:9401.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiRECQ4_HUMAN
AccessioniPrimary (citable) accession number: O94761
Secondary accession number(s): Q3Y424, Q96DW2, Q96F55
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: July 5, 2017
This is version 166 of the entry and version 1 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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families