Q9Z129 (RECQ1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-dependent DNA helicase Q1
EC=3.6.4.12

Alternative name(s):
DNA-dependent ATPase Q1
RecQ protein-like 1

Gene names

Name:	Recql
Synonyms:	Recql1

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	648 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Isoform alpha is a DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Isoform beta may have important roles in the meiotic process. Both isoforms exhibit a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Ref.1
Catalytic activity	ATP + H2O = ADP + phosphate.
Subunit structure	Interacts with EXO1 and MLH1 By similarity.
Subcellular location	Nucleus By similarity.
Tissue specificity	Isoform alpha is expressed in all tissues examined. Isoform beta is only expressed in spermatocytes, expression increases at pachytene (17 days old) and decreases after completion of meiosis II (7 weeks old). Ref.1
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	Nucleus
Coding sequence diversity	Alternative splicing
Ligand	ATP-binding DNA-binding Nucleotide-binding
Molecular function	Helicase Hydrolase
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	DNA recombination Inferred from electronic annotation. Source: InterPro DNA repair Inferred from electronic annotation. Source: InterPro DNA replication Inferred from electronic annotation. Source: InterPro DNA strand renaturation Inferred from electronic annotation. Source: Compara
Cellular_component	microtubule cytoskeleton Inferred from electronic annotation. Source: Compara nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATP-dependent 3'-5' DNA helicase activity Inferred from electronic annotation. Source: InterPro DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Alpha (identifier: Q9Z129-1)

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 Beta (identifier: Q9Z129-2)

The sequence of this isoform differs from the canonical sequence as follows:
     622-648: NSQKSKSRLQPSGSKNAGAKKRKLDDA → SHAADTAANV

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 648	648	ATP-dependent DNA helicase Q1		PRO_0000205050
Regions
	Domain	100 – 275	176	Helicase ATP-binding
	Domain	299 – 451	153	Helicase C-terminal
	Nucleotide binding	113 – 120	8	ATP Potential
	Motif	219 – 222	4	DEVH box
Amino acid modifications
	Modified residue	514	1	N6-acetyllysine By similarity
	Modified residue	522	1	N6-acetyllysine By similarity
	Modified residue	633	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	622 – 648	27	NSQKS…KLDDA → SHAADTAANV in isoform Beta.		VSP_005567
Experimental info
	Sequence conflict	216	1	A → V in BAA75085. Ref.1
	Sequence conflict	216	1	A → V in BAA75086. Ref.1
	Sequence conflict	518	1	A → T in BAA75085. Ref.1
	Sequence conflict	518	1	A → T in BAA75086. Ref.1
	Sequence conflict	525	1	A → P in BAA75085. Ref.1
	Sequence conflict	525	1	A → P in BAA75086. Ref.1
	Sequence conflict	602	1	L → P in BAA75085. Ref.1
	Sequence conflict	602	1	L → P in BAA75086. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform Alpha [UniParc]. Last modified July 27, 2011. Version 2. Checksum: DF84B5E9097BF3F3	FASTA	648	72,484
	10 20 30 40 50 60 MASVSALTEE LESVASELHA IDIQIQELTE RRQELLQRKS VLTGKIKQYL EDSSAEASSD 70 80 90 100 110 120 LDTSPAAWNK EDFPWFGKVK DVLQNVFKLQ KFRPLQLETI NVTMARKDIF LVMPTGGGKS 130 140 150 160 170 180 LCYQLPALCS DGFTLVICPL ISLMEDQLMV LKQLGISATM LNASSSKEHV KWVHAEMVNK 190 200 210 220 230 240 NSQLKLIYVT PEKIAKSKMF MSRLEKAYEA GRLTGAAVDE VHCCSQWGHD FRPDYKALGI 250 260 270 280 290 300 LKRQFPNASL MGLTATATNH VLKDVQKILC VGKCLTFTAS FNRPNLFYEV RQKPSSAEDF 310 320 330 340 350 360 TEDIVKLING RYKGQSGIIY CFSQKDSEQI TISLQKLGIH AGTYHANMEP EDKTKVHTQW 370 380 390 400 410 420 SANELQVVVA TVAFGMGIDK PDVRFVIHHS MSKSMENYYQ ESGRAGRDDS RADCILYYGF 430 440 450 460 470 480 GDIFRISSMV VMENVGQQKL YEMVSYCQNV SKCRRVLIAQ HFDEVWNADA CNKMCDNCCK 490 500 510 520 530 540 DVSFEKKNVT QHCRDLIKIL KQAEGLNEKL TPLKLIDAWM GKGAAKLRVA GVVAPALPRE 550 560 570 580 590 600 DLERIVAHAL LQQYLKEDYS FTAYATISYL KVGPRACLLS NEAHAVTMQV KKSAQSSVRG 610 620 630 640 ALSEARQVEQ VDSKGEEQSS GNSQKSKSRL QPSGSKNAGA KKRKLDDA
	Isoform Beta [UniParc]. Checksum: 633BAB8A1CA86761	FASTA	631	70,540
	10 20 30 40 50 60 MASVSALTEE LESVASELHA IDIQIQELTE RRQELLQRKS VLTGKIKQYL EDSSAEASSD 70 80 90 100 110 120 LDTSPAAWNK EDFPWFGKVK DVLQNVFKLQ KFRPLQLETI NVTMARKDIF LVMPTGGGKS 130 140 150 160 170 180 LCYQLPALCS DGFTLVICPL ISLMEDQLMV LKQLGISATM LNASSSKEHV KWVHAEMVNK 190 200 210 220 230 240 NSQLKLIYVT PEKIAKSKMF MSRLEKAYEA GRLTGAAVDE VHCCSQWGHD FRPDYKALGI 250 260 270 280 290 300 LKRQFPNASL MGLTATATNH VLKDVQKILC VGKCLTFTAS FNRPNLFYEV RQKPSSAEDF 310 320 330 340 350 360 TEDIVKLING RYKGQSGIIY CFSQKDSEQI TISLQKLGIH AGTYHANMEP EDKTKVHTQW 370 380 390 400 410 420 SANELQVVVA TVAFGMGIDK PDVRFVIHHS MSKSMENYYQ ESGRAGRDDS RADCILYYGF 430 440 450 460 470 480 GDIFRISSMV VMENVGQQKL YEMVSYCQNV SKCRRVLIAQ HFDEVWNADA CNKMCDNCCK 490 500 510 520 530 540 DVSFEKKNVT QHCRDLIKIL KQAEGLNEKL TPLKLIDAWM GKGAAKLRVA GVVAPALPRE 550 560 570 580 590 600 DLERIVAHAL LQQYLKEDYS FTAYATISYL KVGPRACLLS NEAHAVTMQV KKSAQSSVRG 610 620 630 ALSEARQVEQ VDSKGEEQSS GSHAADTAAN V

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of two isoforms of mouse DNA helicase Q1/RecQL cDNA; alpha form is expressed ubiquitously and beta form specifically in the testis." Wang W.-S., Seki M., Yamaoka T., Seki T., Tada S., Katada T., Fujimoto H., Enomoto T. Biochim. Biophys. Acta 1443:198-202(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY. Tissue: Spermatocyte and Testis.
[2]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA). Strain: C57BL/6J. Tissue: Bone and Spinal ganglion.
[3]	Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Lubec G., Kang S.U. Submitted (APR-2007) to UniProtKB Cited for: PROTEIN SEQUENCE OF 186-196 AND 502-509, MASS SPECTROMETRY. Strain: C57BL/6. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB017104 mRNA. Translation: BAA75085.1. AB017105 mRNA. Translation: BAA75086.1. AK137589 mRNA. Translation: BAE23422.1. AK164344 mRNA. Translation: BAE37751.1. CH466572 Genomic DNA. Translation: EDL10638.1.
IPI	IPI00129401. IPI00230278.
RefSeq	NP_001191836.1. NM_001204907.1. NP_075529.2. NM_023042.3.
UniGene	Mm.27407.
3D structure databases
ProteinModelPortal	Q9Z129.
SMR	Q9Z129. Positions 64-593.
ModBase	Search...
PTM databases
PhosphoSite	Q9Z129.
Proteomic databases
PaxDb	Q9Z129.
PRIDE	Q9Z129.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000032370; ENSMUSP00000032370; ENSMUSG00000030243. ENSMUST00000111803; ENSMUSP00000107434; ENSMUSG00000030243.
GeneID	19691.
KEGG	mmu:19691.
Organism-specific databases
CTD	5965.
MGI	MGI:103021. Recql.
Phylogenomic databases
eggNOG	COG0514.
GeneTree	ENSGT00550000074520.
HOGENOM	HOG000044388.
HOVERGEN	HBG057654.
InParanoid	Q3TPI5.
KO	K10899.
OMA	ESSQTCH.
OrthoDB	EOG4THVSK.
Gene expression databases
ArrayExpress	Q9Z129.
Bgee	Q9Z129.
CleanEx	MM_RECQL.
Genevestigator	Q9Z129.
GermOnline	ENSMUSG00000030243. Mus musculus.
Family and domain databases
Gene3D	1.10.10.10. 1 hit.
InterPro	IPR011545. DNA/RNA_helicase_DEAD/DEAH_N. IPR004589. DNA_helicase_ATP-dep_RecQ. IPR014001. Helicase_ATP-bd. IPR001650. Helicase_C. IPR018982. RQC_domain. IPR011991. WHTH_DNA-bd_dom. [Graphical view]
Pfam	PF00270. DEAD. 1 hit. PF00271. Helicase_C. 1 hit. PF09382. RQC. 1 hit. [Graphical view]
SMART	SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. [Graphical view]
TIGRFAMs	TIGR00614. recQ_fam. 1 hit.
PROSITE	PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	297024.
SOURCE	Search...

Entry information

Entry name

RECQ1_MOUSE

Accession

Primary (citable) accession number: Q9Z129
Secondary accession number(s): Q3TPI5, Q9Z128

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	July 27, 2011
Last modified:	May 1, 2013
This is version 117 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program