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Q75NR7

- RECQ4_MOUSE

UniProt

Q75NR7 - RECQ4_MOUSE

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Protein

ATP-dependent DNA helicase Q4

Gene

Recql4

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

DNA-dependent ATPase (By similarity). May play a role in development of the palate and the limbs. May modulate chromosome segregation.By similarity2 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri393 – 41018CCHC-typePROSITE-ProRule annotationAdd
BLAST
Nucleotide bindingi519 – 5268ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ATP-dependent helicase activity Source: InterPro
  3. nucleic acid binding Source: InterPro
  4. zinc ion binding Source: InterPro

GO - Biological processi

  1. DNA recombination Source: InterPro
  2. DNA replication Source: UniProtKB
  3. negative regulation of sister chromatid cohesion Source: MGI
  4. pigmentation Source: MGI
  5. positive regulation of cell proliferation Source: MGI
  6. skeletal system development Source: MGI
  7. skeletal system morphogenesis Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Ligandi

ATP-binding, Metal-binding, Nucleotide-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:Recql4
Synonyms:Recq4
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 15

Organism-specific databases

MGIiMGI:1931028. Recql4.

Subcellular locationi

Cytoplasm By similarity. Nucleus By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Disruption phenotypei

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.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12161216ATP-dependent DNA helicase Q4PRO_0000205054Add
BLAST

Proteomic databases

MaxQBiQ75NR7.
PaxDbiQ75NR7.
PRIDEiQ75NR7.

PTM databases

PhosphoSiteiQ75NR7.

Expressioni

Developmental stagei

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.1 Publication

Gene expression databases

BgeeiQ75NR7.
CleanExiMM_RECQL4.
GenevestigatoriQ75NR7.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi219759. 9 interactions.
IntActiQ75NR7. 9 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ75NR7.
SMRiQ75NR7. Positions 1-54.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini506 – 684179Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini705 – 872168Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi627 – 6304DEAH box

Sequence similaritiesi

Belongs to the helicase family. RecQ subfamily.Curated
Contains 1 CCHC-type zinc finger.PROSITE-ProRule annotation
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri393 – 41018CCHC-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiCOG0514.
GeneTreeiENSGT00550000074520.
HOGENOMiHOG000264957.
HOVERGENiHBG065925.
InParanoidiQ75NR7.
KOiK10730.
OrthoDBiEOG7ZPNJ7.
PhylomeDBiQ75NR7.
TreeFamiTF324150.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
4.10.60.10. 1 hit.
InterProiIPR011545. DEAD/DEAH_box_helicase_dom.
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]
PfamiPF00270. DEAD. 1 hit.
PF11719. Drc1-Sld2. 1 hit.
PF00271. Helicase_C. 1 hit.
PF00098. zf-CCHC. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00343. ZnF_C2HC. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
SSF57756. SSF57756. 1 hit.
TIGRFAMsiTIGR00614. recQ_fam. 1 hit.
PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS50158. ZF_CCHC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q75NR7-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MERLATVRAR LQEWERAFAR LHGRRPAKGD VEAAPEETRA LYREYRNLKQ
60 70 80 90 100
AVRQADDRHR VLEQSLAEAA EEAQEPSCWG PHLSRAATQN TQSMPKQSLL
110 120 130 140 150
SSVQDYGKRL KANLKNTTQT GPTQSRKLQL QKRSLSTVPA PRPPGSKTES
160 170 180 190 200
PCPDEADDAL PRVPEPRPRL GQLQQLRSSL SRRLTSLDPG WLERCHNRVS
210 220 230 240 250
DLLEVPGACG LDLSAEESQP QMSGKVNIAD PDIQSEVSVQ SPEAIAQQPA
260 270 280 290 300
QVLSQSPKSI NSKGRKRKWN EKGEDFAQDQ PSSGAGPLSE GARATVHGQD
310 320 330 340 350
PPGEPTQVNV PQPCNSSNQA RTEKAKGTTH LHASPRPASL DRGNYIRLNM
360 370 380 390 400
KNKRFVRVGA NRGRLLRKQV WKQKWKKKQA AFGGSGPRAT DKDTCFRCGQ
410 420 430 440 450
FGHWASQCSQ PGPTLTVQEE GDRDDKQPIS TLEEVAQRTG TASCHHSGEE
460 470 480 490 500
TQPAAPELQV PHCPTPMSPL YPPGPLGQVA ETPAEVFQAL ERLGYRAFRP
510 520 530 540 550
GQERAIMRIL SGISTLLVLP TGAGKSLCYQ LPALLYAQRS PCLTLVVSPL
560 570 580 590 600
LSLMDDQVSD LPSCLKAACL HSGMTKKQRE SVLKKVRAAQ VHVLIVSPEA
610 620 630 640 650
LVGCGARGPG SLPQAAQLPP IAFACIDEVH CLSQWSHNFR PCYLRVCKVL
660 670 680 690 700
REHMGVRCFL GLTATATRST ARDVAQHLGI AGEFELSGSA NIPANLHLSV
710 720 730 740 750
SMDRDSDQAL VTLLQGDRFR TLDSVIIYCT RERIQNGWLA LLRTCLSMVG
760 770 780 790 800
DSRPRGCGPE AIAEAYHAGM SSQERRRVQQ AFMRGHLRMV VATVAFGMGL
810 820 830 840 850
DRPDVRAVLH LGLPPSFESY VQAIGRAGRD GKPAHCHLFM HPQGEDLWEL
860 870 880 890 900
RRHAHADSTD FLAVKRLVQR VFPPCTCSQR PVSKSSPEEV KEHSGQQTYP
910 920 930 940 950
VLGQACLGHE RALPVQSTVQ ALDMTEEAIE TLLCYLELHP RHWLELLPWT
960 970 980 990 1000
YAQCHLHCLG GSAQLQALAH RCPPLAACQA KWPPKDTSQG RSSLEFGVVE
1010 1020 1030 1040 1050
LADSMGWKLA SVRQALHQLK WDPEPKKGAA QGTGVLVKFS ELAFHLHSRG
1060 1070 1080 1090 1100
DLTDEEKDQI CDFLYNRVQA REHKALAHLH QMSKAFRSVA FPSCGPCLEQ
1110 1120 1130 1140 1150
SNEEHSNQVK TLVSYYFEEE EEEEETMTDT QGPKPGQTQL QDWEDQIRRD
1160 1170 1180 1190 1200
VRQLLSLRPE ERFSGRAVAR IFHGIASPCY PAQVYGLDRR FWRKYLHLDF
1210
HALMHLATEE LLLRGR
Length:1,216
Mass (Da):135,124
Last modified:August 16, 2005 - v2
Checksum:i431D79E43BAEC2AF
GO
Isoform 2 (identifier: Q75NR7-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:1,266
Mass (Da):140,415
Checksum:iC5120D603FD7B8EC
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti732 – 7398ERIQNGWL → RKDTERVA in BAD14289. (PubMed:11167012)Curated
Sequence conflicti878 – 8781S → G in BAD11131. (PubMed:11167012)Curated
Sequence conflicti929 – 9291I → T in BAD11131. (PubMed:11167012)Curated
Sequence conflicti937 – 9371E → TK in BAD11131. (PubMed:11167012)Curated
Sequence conflicti1111 – 11111T → D in BAD11131. (PubMed:11167012)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei843 – 8431Q → QVGSPISPDQDRPRGSTIPR PLQPQLLSCLPVSCRPGPKC GSSVHMTVPMQ in isoform 2. 1 PublicationVSP_015177

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB039882 mRNA. Translation: BAD11131.1.
AB175741 mRNA. Translation: BAD14289.1.
AB042529 Genomic DNA. Translation: BAB32696.1.
CCDSiCCDS27588.1. [Q75NR7-1]
RefSeqiNP_478121.2. NM_058214.3.
UniGeneiMm.18373.

Genome annotation databases

EnsembliENSMUST00000036852; ENSMUSP00000044363; ENSMUSG00000033762.
GeneIDi79456.
KEGGimmu:79456.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB039882 mRNA. Translation: BAD11131.1 .
AB175741 mRNA. Translation: BAD14289.1 .
AB042529 Genomic DNA. Translation: BAB32696.1 .
CCDSi CCDS27588.1. [Q75NR7-1 ]
RefSeqi NP_478121.2. NM_058214.3.
UniGenei Mm.18373.

3D structure databases

ProteinModelPortali Q75NR7.
SMRi Q75NR7. Positions 1-54.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 219759. 9 interactions.
IntActi Q75NR7. 9 interactions.

PTM databases

PhosphoSitei Q75NR7.

Proteomic databases

MaxQBi Q75NR7.
PaxDbi Q75NR7.
PRIDEi Q75NR7.

Protocols and materials databases

DNASUi 79456.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000036852 ; ENSMUSP00000044363 ; ENSMUSG00000033762 .
GeneIDi 79456.
KEGGi mmu:79456.

Organism-specific databases

CTDi 9401.
MGIi MGI:1931028. Recql4.

Phylogenomic databases

eggNOGi COG0514.
GeneTreei ENSGT00550000074520.
HOGENOMi HOG000264957.
HOVERGENi HBG065925.
InParanoidi Q75NR7.
KOi K10730.
OrthoDBi EOG7ZPNJ7.
PhylomeDBi Q75NR7.
TreeFami TF324150.

Miscellaneous databases

NextBioi 349927.
PROi Q75NR7.
SOURCEi Search...

Gene expression databases

Bgeei Q75NR7.
CleanExi MM_RECQL4.
Genevestigatori Q75NR7.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
4.10.60.10. 1 hit.
InterProi IPR011545. DEAD/DEAH_box_helicase_dom.
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 ]
Pfami PF00270. DEAD. 1 hit.
PF11719. Drc1-Sld2. 1 hit.
PF00271. Helicase_C. 1 hit.
PF00098. zf-CCHC. 1 hit.
[Graphical view ]
SMARTi SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00343. ZnF_C2HC. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
SSF57756. SSF57756. 1 hit.
TIGRFAMsi TIGR00614. recQ_fam. 1 hit.
PROSITEi PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS50158. ZF_CCHC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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. 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.

Entry informationi

Entry nameiRECQ4_MOUSE
AccessioniPrimary (citable) accession number: Q75NR7
Secondary accession number(s): Q76MT1, Q99PV9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: October 29, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3