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O94761 (RECQ4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:RECQL4
Synonyms:RECQ4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1208 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

DNA-dependent ATPase. May modulate chromosome segregation. Ref.7

Catalytic activity

ATP + H2O = ADP + phosphate.

Subunit structure

Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity. Ref.7 Ref.8

Subcellular location

Cytoplasm. Nucleus Ref.2 Ref.7.

Tissue specificity

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

Induction

Up-regulated in actively dividing cells. Ref.5

Involvement in disease

Rothmund-Thomson syndrome (RTS) [MIM:268400]: Characterized 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

RAPADILINO syndrome (RAPADILINOS) [MIM:266280]: Disease characterized by radial and patellar aplasia or hypoplasia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Baller-Gerold syndrome (BGS) [MIM:218600]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities

Belongs to the helicase family. RecQ subfamily.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

Sequence caution

The sequence AAH13277.2 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12081208ATP-dependent DNA helicase Q4
PRO_0000205053

Regions

Domain489 – 662174Helicase ATP-binding
Domain683 – 850168Helicase C-terminal
Nucleotide binding502 – 5098ATP Potential
Motif605 – 6084DEAH box

Natural variations

Natural variant541Q → R. Ref.3
Corresponds to variant rs35198096 [ dbSNP | Ensembl ].
VAR_025117
Natural variant711E → G. Ref.3
Corresponds to variant rs34642881 [ dbSNP | Ensembl ].
VAR_025118
Natural variant921P → S. Ref.3
Corresponds to variant rs2721190 [ dbSNP | Ensembl ].
VAR_025119
Natural variant1891G → S. Ref.3
Corresponds to variant rs34371341 [ dbSNP | Ensembl ].
VAR_025120
Natural variant2671E → D Common polymorphism. Ref.3 Ref.9
Corresponds to variant rs4244612 [ dbSNP | Ensembl ].
VAR_023295
Natural variant2731A → T. Ref.3
Corresponds to variant rs34103564 [ dbSNP | Ensembl ].
VAR_025121
Natural variant3011E → K. Ref.3
Corresponds to variant rs34633809 [ dbSNP | Ensembl ].
VAR_025122
Natural variant3551R → Q. Ref.10
VAR_023296
Natural variant4411P → S. Ref.10
VAR_023297
Natural variant5221R → C. Ref.3
Corresponds to variant rs35407712 [ dbSNP | Ensembl ].
VAR_025123
Natural variant5221R → H. Ref.3
Corresponds to variant rs35842750 [ dbSNP | Ensembl ].
VAR_025124
Natural variant5231S → T. Ref.11
VAR_026590
Natural variant5911P → L. Ref.3
Corresponds to variant rs2721191 [ dbSNP | Ensembl ].
VAR_025125
Natural variant7931P → L.
Corresponds to variant rs35098923 [ dbSNP | Ensembl ].
VAR_057125
Natural variant7931P → S. Ref.3
Corresponds to variant rs35098923 [ dbSNP | Ensembl ].
VAR_025126
Natural variant7991V → M. Ref.3
Corresponds to variant rs34293591 [ dbSNP | Ensembl ].
VAR_025127
Natural variant857 – 8582Missing.
VAR_023298
Natural variant9641P → T. Ref.3
Corresponds to variant rs33972310 [ dbSNP | Ensembl ].
VAR_025128
Natural variant9761E → K. Ref.3
Corresponds to variant rs35070885 [ dbSNP | Ensembl ].
VAR_025129
Natural variant10041R → W. Ref.3
Corresponds to variant rs36023964 [ dbSNP | Ensembl ].
VAR_025130
Natural variant10051R → Q. Ref.3 Ref.9
Corresponds to variant rs4251691 [ dbSNP | Ensembl ].
VAR_023299
Natural variant10211R → Q. Ref.3
Corresponds to variant rs34666647 [ dbSNP | Ensembl ].
VAR_025131
Natural variant10211R → W in BGS. Ref.11
VAR_026591
Natural variant10431L → P.
Corresponds to variant rs4925828 [ dbSNP | Ensembl ].
VAR_057126
Natural variant10451A → T. Ref.3
Corresponds to variant rs35348691 [ dbSNP | Ensembl ].
VAR_025132
Natural variant11051G → D. Ref.3
Corresponds to variant rs36078464 [ dbSNP | Ensembl ].
VAR_025133
Natural variant11051G → S. Ref.3
Corresponds to variant rs34915097 [ dbSNP | Ensembl ].
VAR_025134
Natural variant11061R → H. Ref.3
Corresponds to variant rs34236392 [ dbSNP | Ensembl ].
VAR_025135
Natural variant11131G → R. Ref.3
Corresponds to variant rs35101495 [ dbSNP | Ensembl ].
VAR_025136
Natural variant11481S → F. Ref.3
Corresponds to variant rs35346077 [ dbSNP | Ensembl ].
VAR_025137

Secondary structure

...... 1208
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
O94761 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: CB809A7765AB48A1

FASTA1,208133,077
        10         20         30         40         50         60 
MERLRDVRER LQAWERAFRR QRGRRPSQDD VEAAPEETRA LYREYRTLKR TTGQAGGGLR 

        70         80         90        100        110        120 
SSESLPAAAE EAPEPRCWGP HLNRAATKSP QPTPGRSRQG SVPDYGQRLK ANLKGTLQAG 

       130        140        150        160        170        180 
PALGRRPWPL GRASSKASTP KPPGTGPVPS FAEKVSDEPP QLPEPQPRPG RLQHLQASLS 

       190        200        210        220        230        240 
QRLGSLDPGW LQRCHSEVPD FLGAPKACRP DLGSEESQLL IPGESAVLGP GAGSQGPEAS 

       250        260        270        280        290        300 
AFQEVSIRVG SPQPSSSGGE KRRWNEEPWE SPAQVQQESS QAGPPSEGAG AVAVEEDPPG 

       310        320        330        340        350        360 
EPVQAQPPQP CSSPSNPRYH GLSPSSQARA GKAEGTAPLH IFPRLARHDR GNYVRLNMKQ 

       370        380        390        400        410        420 
KHYVRGRALR SRLLRKQAWK QKWRKKGECF GGGGATVTTK ESCFLNEQFD HWAAQCPRPA 

       430        440        450        460        470        480 
SEEDTDAVGP EPLVPSPQPV PEVPSLDPTV LPLYSLGPSG QLAETPAEVF QALEQLGHQA 

       490        500        510        520        530        540 
FRPGQERAVM RILSGISTLL VLPTGAGKSL CYQLPALLYS RRSPCLTLVV SPLLSLMDDQ 

       550        560        570        580        590        600 
VSGLPPCLKA ACIHSGMTRK QRESVLQKIR AAQVHVLMLT PEALVGAGGL PPAAQLPPVA 

       610        620        630        640        650        660 
FACIDEAHCL SQWSHNFRPC YLRVCKVLRE RMGVHCFLGL TATATRRTAS DVAQHLAVAE 

       670        680        690        700        710        720 
EPDLHGPAPV PTNLHLSVSM DRDTDQALLT LLQGKRFQNL DSIIIYCNRR EDTERIAALL 

       730        740        750        760        770        780 
RTCLHAAWVP GSGGRAPKTT AEAYHAGMCS RERRRVQRAF MQGQLRVVVA TVAFGMGLDR 

       790        800        810        820        830        840 
PDVRAVLHLG LPPSFESYVQ AVGRAGRDGQ PAHCHLFLQP QGEDLRELRR HVHADSTDFL 

       850        860        870        880        890        900 
AVKRLVQRVF PACTCTCTRP PSEQEGAVGG ERPVPKYPPQ EAEQLSHQAA PGPRRVCMGH 

       910        920        930        940        950        960 
ERALPIQLTV QALDMPEEAI ETLLCYLELH PHHWLELLAT TYTHCRLNCP GGPAQLQALA 

       970        980        990       1000       1010       1020 
HRCPPLAVCL AQQLPEDPGQ GSSSVEFDMV KLVDSMGWEL ASVRRALCQL QWDHEPRTGV 

      1030       1040       1050       1060       1070       1080 
RRGTGVLVEF SELAFHLRSP GDLTAEEKDQ ICDFLYGRVQ ARERQALARL RRTFQAFHSV 

      1090       1100       1110       1120       1130       1140 
AFPSCGPCLE QQDEERSTRL KDLLGRYFEE EEGQEPGGME DAQGPEPGQA RLQDWEDQVR 

      1150       1160       1170       1180       1190       1200 
CDIRQFLSLR PEEKFSSRAV ARIFHGIGSP CYPAQVYGQD RRFWRKYLHL SFHALVGLAT 


EELLQVAR 

« Hide

References

« Hide 'large scale' references
[1]"Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes."
Kitao S., Ohsugi I., Ichikawa K., Goto M., Furuichi Y., Shimamoto A.
Genomics 54:443-452(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
Tissue: Testis.
[2]"Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products."
Kitao S., Lindor N.M., Shiratori M., Furuichi Y., Shimamoto A.
Genomics 61:268-276(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, INVOLVEMENT IN ROTHMUND-THOMSON SYNDROME.
[3]NIEHS SNPs program
Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-54; GLY-71; SER-92; SER-189; ASP-267; THR-273; LYS-301; CYS-522; HIS-522; LEU-591; SER-793; MET-799; THR-964; LYS-976; TRP-1004; GLN-1005; GLN-1021; THR-1045; SER-1105; ASP-1105; HIS-1106; ARG-1113 AND PHE-1148.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 468-1208.
Tissue: Lymph and Placenta.
[5]"Differential regulation of human RecQ family helicases in cell transformation and cell cycle."
Kawabe T., Tsuyama N., Kitao S., Nishikawa K., Shimamoto A., Shiratori M., Matsumoto T., Anno K., Sato T., Mitsui Y., Seki M., Enomoto T., Goto M., Ellis N.A., Ide T., Furuichi Y., Sugimoto M.
Oncogene 19:4764-4772(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
[6]"Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases."
Siitonen H.A., Kopra O., Kaeaeriaeinen H., Haravuori H., Winter R.M., Saeaemaenen A.-M., Peltonen L., Kestilae M.
Hum. Mol. Genet. 12:2837-2844(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RAPADILINOS.
[7]"RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway."
Yin J., Kwon Y.T., Varshavsky A., Wang W.
Hum. Mol. Genet. 13:2421-2430(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH UBR1 AND UBR2, SUBCELLULAR LOCATION, FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY.
[8]"MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication."
Xu X., Rochette P.J., Feyissa E.A., Su T.V., Liu Y.
EMBO J. 28:3005-3014(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH MCM10.
[9]"Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite."
Roversi G., Beghini A., Zambruno G., Paradisi M., Larizza L.
J. Hum. Genet. 48:107-109(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ASP-267 AND GLN-1005.
[10]"Mutation analysis of the RECQL4 gene in sporadic osteosarcomas."
Nishijo K., Nakayama T., Aoyama T., Okamoto T., Ishibe T., Yasura K., Shima Y., Shibata K.R., Tsuboyama T., Nakamura T., Toguchida J.
Int. J. Cancer 111:367-372(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS GLN-355; SER-441 AND 857-CYS--THR-858 DEL.
[11]"Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene."
Van Maldergem L., Siitonen H.A., Jalkh N., Chouery E., De Roy M., Delague V., Muenke M., Jabs E.W., Cai J., Wang L.L., Plon S.E., Fourneau C., Kestilae M., Gillerot Y., Megarbane A., Verloes A.
J. Med. Genet. 43:148-152(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BGS TRP-1021, VARIANT THR-523.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_004251.3. NM_004260.3.
UniGeneHs.31442.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2KMUNMR-A1-54[»]
ProteinModelPortalO94761.
SMRO94761. Positions 1-54, 474-830.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114798. 12 interactions.
DIPDIP-48475N.
IntActO94761. 3 interactions.
MINTMINT-1432307.
STRING9606.ENSP00000410312.

PTM databases

PhosphoSiteO94761.

Proteomic databases

MaxQBO94761.
PaxDbO94761.
PRIDEO94761.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

GeneID9401.
KEGGhsa:9401.
UCSCuc003zdj.3. human.

Organism-specific databases

CTD9401.
GeneCardsGC08M145739.
GeneReviewsRECQL4.
HGNCHGNC:9949. RECQL4.
HPACAB017800.
HPA008291.
HPA025821.
MIM218600. phenotype.
266280. phenotype.
268400. phenotype.
603780. gene.
neXtProtNX_O94761.
Orphanet1225. Baller-Gerold syndrome.
3021. RAPADILINO syndrome.
221016. Rothmund-Thomson syndrome type 2.
PharmGKBPA34316.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0514.
HOGENOMHOG000264957.
HOVERGENHBG065925.
InParanoidO94761.
KOK10730.
PhylomeDBO94761.

Gene expression databases

CleanExHS_RECQL4.
GenevestigatorO94761.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
IPR004589. DNA_helicase_ATP-dep_RecQ.
IPR021110. DNA_rep_checkpnt_protein.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR001878. Znf_CCHC.
[Graphical view]
PfamPF00270. DEAD. 1 hit.
PF11719. Drc1-Sld2. 1 hit.
PF00271. Helicase_C. 1 hit.
[Graphical view]
SMARTSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00343. ZnF_C2HC. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
TIGRFAMsTIGR00614. recQ_fam. 1 hit.
PROSITEPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceO94761.
GeneWikiRECQL4.
GenomeRNAi9401.
NextBio35219.
PROO94761.
SOURCESearch...

Entry information

Entry nameRECQ4_HUMAN
AccessionPrimary (citable) accession number: O94761
Secondary accession number(s): Q3Y424, Q96DW2, Q96F55
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 140 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM