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Reviewed, UniProtKB/Swiss-Prot O94762 (RECQ5_HUMAN)

Last modified November 25, 2008. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    ATP-dependent DNA helicase Q5
    EC=3.6.1.-
Alternative name(s):
    RecQ protein-like 5
      Short name=RecQ5
Gene names
Name: RECQL5
Synonyms: RECQ5
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length991 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

May have an important role in DNA metabolism.

Subunit structure

Interacts with TOP3A and TOP3B.

Subcellular location

Isoform Beta: Nucleus › nucleoplasm.

Isoform Alpha: Cytoplasm.

Isoform Gamma: Cytoplasm.

Tissue specificity

Ubiquitous.

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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Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform Beta (identifier: O94762-1)

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.
Isoform Alpha (identifier: O94762-2)

Also known as: RecQ5b;

The sequence of this isoform differs from the canonical sequence as follows:
     411-991: Missing.
Isoform Gamma (identifier: O94762-3)

Also known as: RecQ5a;

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

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 991991ATP-dependent DNA helicase Q5
PRO_0000205055

Regions

Domain39 – 213175Helicase ATP-binding
Domain241 – 403163Helicase C-terminal
Nucleotide binding52 – 598ATP Potential
Motif157 – 1604DEAH box

Natural variations

Alternative sequence411 – 991581Missing in isoform Alpha.
VSP_005568
Alternative sequence411 – 43525CRHAA…CDHCQ → RWGRGHGKSLRAAWCSQVVS RHAEL in isoform Gamma.
VSP_005569
Alternative sequence436 – 991556Missing in isoform Gamma.
VSP_005570
Natural variant4801D → G: dbSNP rs820196.
VAR_024272

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Sequences

Sequence LengthMass (Da)Tools
Isoform Beta [UniParc].

Last modified August 30, 2002. Version 2.
Checksum: 983668133DED865A

FASTA991108,858
        10         20         30         40         50         60 
MSSHHTTFPF DPERRVRSTL KKVFGFDSFK TPLQESATMA VVKGNKDVFV CMPTGAGKSL 

        70         80         90        100        110        120 
CYQLPALLAK GITIVVSPLI ALIQDQVDHL LTLKVRVSSL NSKLSAQERK ELLADLEREK 

       130        140        150        160        170        180 
PQTKILYITP EMAASSSFQP TLNSLVSRHL LSYLVVDEAH CVSQWGHDFR PDYLRLGALR 

       190        200        210        220        230        240 
SRLGHAPCVA LTATATPQVQ EDVFAALHLK KPVAIFKTPC FRANLFYDVQ FKELISDPYG 

       250        260        270        280        290        300 
NLKDFCLKAL GQEADKGLSG CGIVYCRTRE ACEQLAIELS CRGVNAKAYH AGLKASERTL 

       310        320        330        340        350        360 
VQNDWMEEKV PVIVATISFG MGVDKANVRF VAHWNIAKSM AGYYQESGRA GRDGKPSWCR 

       370        380        390        400        410        420 
LYYSRNDRDQ VSFLIRKEVA KLQEKRGNKA SDKATIMAFD ALVTFCEELG CRHAAIAKYF 

       430        440        450        460        470        480 
GDALPACAKG CDHCQNPTAV RRRLEALERS SSWSKTCIGP SQGNGFDPEL YEGGRKGYGD 

       490        500        510        520        530        540 
FSRYDEGSGG SGDEGRDEAH KREWNLFYQK QMQLRKGKDP KIEEFVPPDE NCPLKEASSR 

       550        560        570        580        590        600 
RIPRLTVKAR EHCLRLLEEA LSSNRQSTRT ADEADLRAKA VELEHETFRN AKVANLYKAS 

       610        620        630        640        650        660 
VLKKVADIHR ASKDGQPYDM GGSAKSCSAQ AEPPEPNEYD IPPASHVYSL KPKRVGAGFP 

       670        680        690        700        710        720 
KGSCPFQTAT ELMETTRIRE QAPQPERGGE HEPPSRPCGL LDEDGSEPLP GPRGEVPGGS 

       730        740        750        760        770        780 
AHYGGPSPEK KAKSSSGGSS LAKGRASKKQ QLLATAAHKD SQSIARFFCR RVESPALLAS 

       790        800        810        820        830        840 
APEAEGACPS CEGVQGPPMA PEKYTGEEDG AGGHSPAPPQ TEECLRERPS TCPPRDQGTP 

       850        860        870        880        890        900 
EVQPTPAKDT WKGKRPRSQQ ENPESQPQKR PRPSAKPSVV AEVKGSVSAS EQGTLNPTAQ 

       910        920        930        940        950        960 
DPFQLSAPGV SLKEAANVVV KCLTPFYKEG KFASKELFKG FARHLSHLLT QKTSPGRSVK 

       970        980        990 
EEAQNLIRHF FHGRARCESE ADWHGLCGPQ R

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Isoform Alpha (RecQ5b) [UniParc].

Checksum: 4B3035ED9892A112
Show »

41045,679
Isoform Gamma (RecQ5a) [UniParc].

Checksum: 00EC15408C5D09AA
Show »

43548,509

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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: 9878247] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA).
Tissue: Testis.
[2]"Drosophila and human RecQ5 exist in different isoforms generated by alternative splicing."
Sekelsky J.J., Brodsky M.H., Rubin G.M., Hawley R.S.
Nucleic Acids Res. 27:3762-3769(1999) [PubMed: 10471747] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS ALPHA AND GAMMA).
[3]"Human RecQ5-beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3-alpha and 3-beta."
Shimamoto A., Nishikawa K., Kitao S., Furuichi Y.
Nucleic Acids Res. 28:1647-1655(2000) [PubMed: 10710432] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS ALPHA; BETA AND GAMMA), SUBCELLULAR LOCATION, INTERACTION WITH TOP3A AND TOP3B.
Tissue: Testis.
[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] (ISOFORM GAMMA).
Tissue: Duodenum.
+Additional computationally mapped references.

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Cross-references

Sequence databases

AB006533 mRNA. Translation: BAA74454.1.
AF135183 Unassigned DNA. Translation: AAD43061.1.
AF135183 Unassigned DNA. Translation: AAD43062.1.
AB042823 mRNA. Translation: BAA95952.1.
AB042824 mRNA. Translation: BAA95953.1.
AB042825 mRNA. Translation: BAA95954.1.
BC016911 mRNA. Translation: AAH16911.1.
RefSeqNP_001003715.1.
NP_001003716.1.
NP_004250.4.
UniGeneHs.632229

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActO94762.

PTM databases

PhosphoSiteO94762.

Genome annotation databases

EnsemblENSG00000108469. Homo sapiens. [Contig view]
GeneID9400.
KEGGhsa:9400.

Organism-specific databases

H-InvDBHIX0014182.
HGNCHGNC:9950. RECQL5.
MIM603781. gene.
PharmGKBPA34317.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMO94762.
HOVERGENO94762.

Gene expression databases

ArrayExpressO94762.
CleanExHS_RECQL5.
GermOnlineENSG00000108469. Homo sapiens.

Family and domain databases

InterProIPR014001. 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.
IPR010716. RecQ_helicase-like_5.
[Graphical view]
PANTHERPTHR13710. RecQ. 1 hit.
PfamPF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF06959. RecQ5. 1 hit.
[Graphical view]
SMARTSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
TIGRFAMsTIGR00614. recQ_fam. 1 hit.
PROSITEPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio35211.
SOURCESearch...

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Entry information

Entry nameRECQ5_HUMAN
AccessionPrimary (citable) accession number: O94762
Secondary accession number(s): Q9P1W7, Q9UNC8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 30, 2002
Last modified: November 25, 2008
This is version 87 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 17

Human chromosome 17: 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 · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents