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Q75NR7 (RECQ4_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·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
RecQ protein-like 4
Gene names
Name:Recql4
Synonyms:Recq4
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length1216 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

DNA-dependent ATPase By similarity. May play a role in development of the palate and the limbs. May modulate chromosome segregation. Ref.2 Ref.4

Catalytic activity

ATP + H2O = ADP + phosphate.

Subunit structure

Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity By similarity.

Subcellular location

Cytoplasm By similarity. Nucleus By similarity.

Developmental stage

Not expressed at E12.5. Expressed at E15.5-E18.5, with highest levels in chondrocytes of developing bone and cartilage and immature proliferating enterocytes of intestine. Ref.3

Disruption phenotype

Early embryonic lethality. Transgenic mice with exon 13-deleted RECQL4 are severely growth-retarded and show high (95%) perinatal lethality. They exhibit various skin, bone, intestine, tooth and thymus abnormalities and premature aging features, but have normal sensitivity to IR and UV irradiation. In contrast, transgenic mice expressing a truncated form of RECQL4 exhibit mild perinatal lethality, no growth defect, but show defects of the skin and skeleton, aneuploidy and increased cancer susceptibility. Ref.2 Ref.4

Sequence similarities

Belongs to the helicase family. RecQ subfamily.

Contains 1 CCHC-type zinc finger.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q75NR7-1)

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 2 (identifier: Q75NR7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     843-843: Q → QVGSPISPDQDRPRGSTIPRPLQPQLLSCLPVSCRPGPKCGSSVHMTVPMQ

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12161216ATP-dependent DNA helicase Q4
PRO_0000205054

Regions

Domain506 – 684179Helicase ATP-binding
Domain705 – 872168Helicase C-terminal
Zinc finger393 – 41018CCHC-type
Nucleotide binding519 – 5268ATP Potential
Motif627 – 6304DEAH box

Natural variations

Alternative sequence8431Q → QVGSPISPDQDRPRGSTIPR PLQPQLLSCLPVSCRPGPKC GSSVHMTVPMQ in isoform 2.
VSP_015177

Experimental info

Sequence conflict732 – 7398ERIQNGWL → RKDTERVA in BAD14289. Ref.1
Sequence conflict8781S → G in BAD11131. Ref.1
Sequence conflict9291I → T in BAD11131. Ref.1
Sequence conflict9371E → TK in BAD11131. Ref.1
Sequence conflict11111T → D in BAD11131. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 16, 2005. Version 2.
Checksum: 431D79E43BAEC2AF

FASTA1,216135,124
        10         20         30         40         50         60 
MERLATVRAR LQEWERAFAR LHGRRPAKGD VEAAPEETRA LYREYRNLKQ AVRQADDRHR 

        70         80         90        100        110        120 
VLEQSLAEAA EEAQEPSCWG PHLSRAATQN TQSMPKQSLL SSVQDYGKRL KANLKNTTQT 

       130        140        150        160        170        180 
GPTQSRKLQL QKRSLSTVPA PRPPGSKTES PCPDEADDAL PRVPEPRPRL GQLQQLRSSL 

       190        200        210        220        230        240 
SRRLTSLDPG WLERCHNRVS DLLEVPGACG LDLSAEESQP QMSGKVNIAD PDIQSEVSVQ 

       250        260        270        280        290        300 
SPEAIAQQPA QVLSQSPKSI NSKGRKRKWN EKGEDFAQDQ PSSGAGPLSE GARATVHGQD 

       310        320        330        340        350        360 
PPGEPTQVNV PQPCNSSNQA RTEKAKGTTH LHASPRPASL DRGNYIRLNM KNKRFVRVGA 

       370        380        390        400        410        420 
NRGRLLRKQV WKQKWKKKQA AFGGSGPRAT DKDTCFRCGQ FGHWASQCSQ PGPTLTVQEE 

       430        440        450        460        470        480 
GDRDDKQPIS TLEEVAQRTG TASCHHSGEE TQPAAPELQV PHCPTPMSPL YPPGPLGQVA 

       490        500        510        520        530        540 
ETPAEVFQAL ERLGYRAFRP GQERAIMRIL SGISTLLVLP TGAGKSLCYQ LPALLYAQRS 

       550        560        570        580        590        600 
PCLTLVVSPL LSLMDDQVSD LPSCLKAACL HSGMTKKQRE SVLKKVRAAQ VHVLIVSPEA 

       610        620        630        640        650        660 
LVGCGARGPG SLPQAAQLPP IAFACIDEVH CLSQWSHNFR PCYLRVCKVL REHMGVRCFL 

       670        680        690        700        710        720 
GLTATATRST ARDVAQHLGI AGEFELSGSA NIPANLHLSV SMDRDSDQAL VTLLQGDRFR 

       730        740        750        760        770        780 
TLDSVIIYCT RERIQNGWLA LLRTCLSMVG DSRPRGCGPE AIAEAYHAGM SSQERRRVQQ 

       790        800        810        820        830        840 
AFMRGHLRMV VATVAFGMGL DRPDVRAVLH LGLPPSFESY VQAIGRAGRD GKPAHCHLFM 

       850        860        870        880        890        900 
HPQGEDLWEL RRHAHADSTD FLAVKRLVQR VFPPCTCSQR PVSKSSPEEV KEHSGQQTYP 

       910        920        930        940        950        960 
VLGQACLGHE RALPVQSTVQ ALDMTEEAIE TLLCYLELHP RHWLELLPWT YAQCHLHCLG 

       970        980        990       1000       1010       1020 
GSAQLQALAH RCPPLAACQA KWPPKDTSQG RSSLEFGVVE LADSMGWKLA SVRQALHQLK 

      1030       1040       1050       1060       1070       1080 
WDPEPKKGAA QGTGVLVKFS ELAFHLHSRG DLTDEEKDQI CDFLYNRVQA REHKALAHLH 

      1090       1100       1110       1120       1130       1140 
QMSKAFRSVA FPSCGPCLEQ SNEEHSNQVK TLVSYYFEEE EEEEETMTDT QGPKPGQTQL 

      1150       1160       1170       1180       1190       1200 
QDWEDQIRRD VRQLLSLRPE ERFSGRAVAR IFHGIASPCY PAQVYGLDRR FWRKYLHLDF 

      1210 
HALMHLATEE LLLRGR 

« Hide

Isoform 2 [UniParc].

Checksum: C5120D603FD7B8EC
Show »

FASTA1,266140,415

References

[1]"Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4."
Ohhata T., Araki R., Fukumura R., Kuroiwa A., Matsuda Y., Tatsumi K., Abe M.
Gene 261:251-258(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 16-1115 (ISOFORM 2).
[2]"Growth retardation and skin abnormalities of the Recql4-deficient mouse."
Hoki Y., Araki R., Fujimori A., Ohhata T., Koseki H., Fukumura R., Nakamura M., Takahashi H., Noda Y., Kito S., Abe M.
Hum. Mol. Genet. 12:2293-2299(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DISRUPTION PHENOTYPE.
[3]"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: DEVELOPMENTAL STAGE.
[4]"Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome."
Mann M.B., Hodges C.A., Barnes E., Vogel H., Hassold T.J., Luo G.
Hum. Mol. Genet. 14:813-825(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DISRUPTION PHENOTYPE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB039882 mRNA. Translation: BAD11131.1.
AB175741 mRNA. Translation: BAD14289.1.
AB042529 Genomic DNA. Translation: BAB32696.1.
CCDSCCDS27588.1. [Q75NR7-1]
RefSeqNP_478121.2. NM_058214.3.
UniGeneMm.18373.

3D structure databases

ProteinModelPortalQ75NR7.
SMRQ75NR7. Positions 1-54.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid219759. 9 interactions.
IntActQ75NR7. 9 interactions.

PTM databases

PhosphoSiteQ75NR7.

Proteomic databases

PaxDbQ75NR7.
PRIDEQ75NR7.

Protocols and materials databases

DNASU79456.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000036852; ENSMUSP00000044363; ENSMUSG00000033762.
GeneID79456.
KEGGmmu:79456.

Organism-specific databases

CTD9401.
MGIMGI:1931028. Recql4.

Phylogenomic databases

eggNOGCOG0514.
GeneTreeENSGT00550000074520.
HOGENOMHOG000264957.
HOVERGENHBG065925.
KOK10730.
OrthoDBEOG7ZPNJ7.
PhylomeDBQ75NR7.
TreeFamTF324150.

Gene expression databases

BgeeQ75NR7.
CleanExMM_RECQL4.
GenevestigatorQ75NR7.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
4.10.60.10. 1 hit.
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.
PF00098. zf-CCHC. 1 hit.
[Graphical view]
SMARTSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00343. ZnF_C2HC. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
SSF57756. SSF57756. 1 hit.
TIGRFAMsTIGR00614. recQ_fam. 1 hit.
PROSITEPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS50158. ZF_CCHC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio349927.
PROQ75NR7.
SOURCESearch...

Entry information

Entry nameRECQ4_MOUSE
AccessionPrimary (citable) accession number: Q75NR7
Secondary accession number(s): Q76MT1, Q99PV9
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: July 9, 2014
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot