ATP-dependent DNA helicase Q4 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot O94761 (RECQ4_HUMAN)

Last modified November 25, 2008. Version 80. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    ATP-dependent DNA helicase Q4
    EC=3.6.1.-
Alternative name(s):
    RecQ protein-like 4
      Short name=RecQ4
    RTS

Gene names

Name:	RECQL4
Synonyms:	RECQ4

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	1208 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	DNA-dependent ATPase. May modulate chromosome segregation.
Subunit structure	Interacts with UBR1 and UBR2.
Subcellular location	Cytoplasm. Nucleus.
Tissue specificity	Ubiquitously expressed, with highest levels in thymus and testis.
Induction	Up-regulated in actively dividing cells.
Involvement in disease	Defects in RECQL4 are a cause of Rothmund-Thomson syndrome (RTS) [MIM:268400]. A disease 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. Defects in RECQL4 are a cause of RAPADILINO syndrome [MIM:266280]. A disease characterized by radial and patellar aplasia or hypoplasia. Defects in RECQL4 are a cause of Baller-Gerold syndrome (BGS) [MIM:218600]; also known as craniosynostosis with radial defects. BGS is 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. BGS is part of the clinical spectrum of Rothmund-Thomson and RAPADILINO syndromes.
Sequence similarities	Belongs to the helicase family. RecQ subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain.

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Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Cataract Craniosynostosis Disease mutation Dwarfism
Ligand	ATP-binding Nucleotide-binding
Molecular function	Helicase Hydrolase
Gene Ontology (GO)
Biological process	DNA recombination Inferred from electronic annotation. Source: InterPro DNA repair Ref.1 Traceable author statement. Source: ProtInc
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro ATP-dependent helicase activity Inferred from electronic annotation. Source: InterPro DNA helicase activity Ref.1 Traceable author statement. Source: ProtInc nucleic acid binding Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1208

1208

ATP-dependent DNA helicase Q4

PRO_0000205053

Regions

Domain

489 – 662

174

Helicase ATP-binding

Domain

683 – 850

168

Helicase C-terminal

Nucleotide binding

502 – 509

ATP Potential

Motif

605 – 608

DEAH box

Natural variations

Natural variant

Q → R

VAR_025117

Natural variant

E → G

VAR_025118

Natural variant

P → S

VAR_025119

Natural variant

189

G → S

VAR_025120

Natural variant

267

E → D Common polymorphism.

VAR_023295

Natural variant

273

A → T

VAR_025121

Natural variant

301

E → K

VAR_025122

Natural variant

355

R → Q

VAR_023296

Natural variant

441

P → S

VAR_023297

Natural variant

522

R → C

VAR_025123

Natural variant

522

R → H

VAR_025124

Natural variant

523

S → T

VAR_026590

Natural variant

591

P → L

VAR_025125

Natural variant

793

P → S

VAR_025126

Natural variant

799

V → M

VAR_025127

Natural variant

857 – 858

Missing

VAR_023298

Natural variant

964

P → T

VAR_025128

Natural variant

976

E → K

VAR_025129

Natural variant

1004

R → W

VAR_025130

Natural variant

1005

R → Q Common polymorphism.

VAR_023299

Natural variant

1021

R → Q

VAR_025131

Natural variant

1021

R → W in BGS.

VAR_026591

Natural variant

1045

A → T

VAR_025132

Natural variant

1105

G → D

VAR_025133

Natural variant

1105

G → S

VAR_025134

Natural variant

1106

R → H

VAR_025135

Natural variant

1113

G → R

VAR_025136

Natural variant

1148

S → F

VAR_025137

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Sequences

Sequence

Length

Mass (Da)

Tools

O94761-1 [UniParc].

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

1,208

133,077

        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

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References

	« Hide 'large scale' referencesShow '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: 9878247] [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: 10552928] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, INVOLVEMENT IN ROTHMUND-THOMSON SYNDROME.
[3]	"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Livingston R.J., Rieder M.J., Shaffer T., Bertucci C., Baier C.N., Rajkumar N., Willa H.T., Daniels M., Downing T.K., Stanaway I.B., Nguyen C.P., Gildersleeve H., Cassidy C.M., Johnson E.J., Swanson J.E., McFarland I., Yool B., Park C., Nickerson D.A. 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: 15489334] [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: 11032027] [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: 12952869] [Abstract] Cited for: INVOLVEMENT IN RAPADILINO SYNDROME.
[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: 15317757] [Abstract] Cited for: INTERACTION WITH UBR1 AND UBR2, SUBCELLULAR LOCATION, FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY.
[8]	"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: 12601557] [Abstract] Cited for: VARIANTS ASP-267 AND GLN-1005.
[9]	"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: 15221963] [Abstract] Cited for: VARIANTS GLN-355; SER-441 AND 857-CYS--THR-858 DEL.
[10]	"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: 15964893] [Abstract] Cited for: VARIANT BGS TRP-1021, VARIANT THR-523.
+	Additional computationally mapped references.

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Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

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Cross-references

Sequence databases
	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.
RefSeq	NP_004251.2.
UniGene	Hs.31442
3D structure databases
HSSP	HSSP built from PDB template 1OYY based on UniProtKB P15043.
ModBase	Search...
Protein-protein interaction databases
IntAct	O94761.
PTM databases
PhosphoSite	O94761.
Polymorphism databases
NIEHS-SNPs	Search...
Genome annotation databases
Ensembl	ENSG00000160957. Homo sapiens. [Contig view]
GeneID	9401.
KEGG	hsa:9401.
Organism-specific databases
H-InvDB	HIX0034231.
HGNC	HGNC:9949. RECQL4.
HPA	CAB017800. HPA008291.
MIM	218600. phenotype. 266280. phenotype. 268400. phenotype. 603780. gene.
Orphanet	1225. Baller-Gerold syndrome. 3021. RAPADILINO syndrome. 2909. Rothmund-Thomson syndrome.
PharmGKB	PA34316.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	O94761.
HOVERGEN	O94761.
Gene expression databases
CleanEx	HS_RECQL4.
GermOnline	ENSG00000160957. Homo sapiens.
Family and domain databases
InterPro	IPR014001. DEAD-like_N. IPR001650. DNA/RNA_helicase_C. IPR011545. DNA/RNA_helicase_DEAD/DEAH_N. IPR002464. DNA/RNA_helicase_DEAH_CS. IPR004589. DNA_helicase_ATP-dep_RecQ. IPR014021. Helicase_SF1/SF2_ATP-bd. IPR001878. Znf_CCHC. [Graphical view]
PANTHER	PTHR13710. RecQ. 1 hit.
Pfam	PF00270. DEAD. 1 hit. PF00271. Helicase_C. 1 hit. [Graphical view]
SMART	SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. SM00343. ZnF_C2HC. 1 hit. [Graphical view]
TIGRFAMs	TIGR00614. recQ_fam. 1 hit.
PROSITE	PS00690. DEAH_ATP_HELICASE. False negative. PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	35219.
SOURCE	Search...

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Entry information

Entry name

RECQ4_HUMAN

Accession

Primary (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:	November 25, 2008
This is version 80 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 8

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Sequence annotation (Features)

Molecule processing

Regions

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents