O94762 (RECQ5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-dependent DNA helicase Q5
EC=3.6.4.12

Alternative name(s):
DNA helicase, RecQ-like type 5
Short name=RecQ5
RecQ protein-like 5

Gene names

Name:	RECQL5
Synonyms:	RECQ5

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	991 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May have an important role in DNA metabolism.
Catalytic activity	ATP + H2O = ADP + phosphate.
Subunit structure	Interacts with TOP3A and TOP3B. Ref.3
Subcellular location	Isoform Beta: Nucleus › nucleoplasm Ref.3. Isoform Alpha: Cytoplasm Ref.3. Isoform Gamma: Cytoplasm Ref.3.
Tissue specificity	Ubiquitous.
Sequence similarities	Belongs to the helicase family. RecQ subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Nucleotide-binding
Molecular function	Helicase Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA recombination Inferred from electronic annotation. Source: InterPro DNA repair Traceable author statement Ref.1. Source: ProtInc
Cellular_component	DNA-directed RNA polymerase II, holoenzyme Inferred from direct assay PubMed 22231121. Source: UniProtKB cytoplasm Non-traceable author statement Ref.3. Source: UniProtKB nuclear membrane Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATP-dependent helicase activity Inferred from electronic annotation. Source: InterPro DNA helicase activity Non-traceable author statement Ref.3. Source: UniProtKB nucleic acid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 991	991	ATP-dependent DNA helicase Q5		PRO_0000205055
Regions
	Domain	39 – 213	175	Helicase ATP-binding
	Domain	241 – 403	163	Helicase C-terminal
	Nucleotide binding	52 – 59	8	ATP Potential
	Motif	157 – 160	4	DEAH box
Amino acid modifications
	Modified residue	815	1	Phosphoserine Ref.6
Natural variations
	Alternative sequence	411 – 991	581	Missing in isoform Alpha.		VSP_005568
	Alternative sequence	411 – 435	25	CRHAA…CDHCQ → RWGRGHGKSLRAAWCSQVVS RHAEL in isoform Gamma.		VSP_005569
	Alternative sequence	436 – 991	556	Missing in isoform Gamma.		VSP_005570
	Natural variant	480	1	D → G. Corresponds to variant rs820196 [ dbSNP | Ensembl ].		VAR_024272
	Natural variant	628	1	S → N. Corresponds to variant rs35566780 [ dbSNP | Ensembl ].		VAR_051733

Sequences

	Sequence		Length	Mass (Da)
	Isoform Beta [UniParc]. Last modified August 30, 2002. Version 2. Checksum: 983668133DED865A	FASTA	991	108,858
	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
	Isoform Alpha (RecQ5b) [UniParc]. Checksum: 4B3035ED9892A112	FASTA	410	45,679
	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 LYYSRNDRDQ VSFLIRKEVA KLQEKRGNKA SDKATIMAFD ALVTFCEELG
	Isoform Gamma (RecQ5a) [UniParc]. Checksum: 00EC15408C5D09AA	FASTA	435	48,509
	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 RWGRGHGKSL 430 RAAWCSQVVS RHAEL

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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM GAMMA). Tissue: Duodenum.
[5]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 831-991. Tissue: Testis.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-815, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB006533 mRNA. Translation: BAA74454.1. AF135183 mRNA. Translation: AAD43061.1. AF135183 mRNA. Translation: AAD43062.1. AB042823 mRNA. Translation: BAA95952.1. AB042824 mRNA. Translation: BAA95953.1. AB042825 mRNA. Translation: BAA95954.1. BC016911 mRNA. Translation: AAH16911.1. AL136869 mRNA. Translation: CAB66803.3.
IPI	IPI00220819. IPI00220820. IPI01015246.
RefSeq	NP_001003715.1. NM_001003715.3. NP_001003716.1. NM_001003716.3. NP_004250.4. NM_004259.6.
UniGene	Hs.632229.
3D structure databases
ProteinModelPortal	O94762.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-32964N.
IntAct	O94762. 14 interactions.
MINT	MINT-1378331.
STRING	9606.ENSP00000317636.
PTM databases
PhosphoSite	O94762.
Proteomic databases
PaxDb	O94762.
PRIDE	O94762.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000317905; ENSP00000317636; ENSG00000108469. ENST00000340830; ENSP00000341983; ENSG00000108469. ENST00000420326; ENSP00000414933; ENSG00000108469. ENST00000584999; ENSP00000462248; ENSG00000108469.
GeneID	9400.
KEGG	hsa:9400.
UCSC	uc002joz.4. human. uc002jpb.2. human. uc010dgl.3. human.
Organism-specific databases
CTD	9400.
GeneCards	GC17M073622.
HGNC	HGNC:9950. RECQL5.
HPA	HPA029970. HPA029971.
MIM	603781. gene.
neXtProt	NX_O94762.
PharmGKB	PA34317.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0514.
HOGENOM	HOG000206773.
HOVERGEN	HBG057065.
InParanoid	O94762.
KO	K10902.
OrthoDB	EOG46WZ7X.
PhylomeDB	O94762.
Gene expression databases
ArrayExpress	O94762.
Bgee	O94762.
CleanEx	HS_RECQL5.
Genevestigator	O94762.
GermOnline	ENSG00000108469. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.10. 1 hit.
InterPro	IPR011545. DNA/RNA_helicase_DEAD/DEAH_N. IPR002464. DNA/RNA_helicase_DEAH_CS. IPR004589. DNA_helicase_ATP-dep_RecQ. IPR014001. Helicase_ATP-bd. IPR001650. Helicase_C. IPR010716. RecQ_helicase-like_5. IPR011991. WHTH_DNA-bd_dom. [Graphical view]
Pfam	PF00270. DEAD. 1 hit. PF00271. Helicase_C. 1 hit. PF06959. RecQ5. 1 hit. [Graphical view]
ProDom	PD120154. RecQ_helicase-like_5. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. [Graphical view]
TIGRFAMs	TIGR00614. recQ_fam. 1 hit.
PROSITE	PS00690. DEAH_ATP_HELICASE. 1 hit. PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RECQL5. human.
GenomeRNAi	9400.
NextBio	35211.
SOURCE	Search...

Entry information

Entry name

RECQ5_HUMAN

Accession

Primary (citable) accession number: O94762
Secondary accession number(s): Q9H0B1, Q9P1W7, Q9UNC8

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	August 30, 2002
Last modified:	May 1, 2013
This is version 132 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.