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Q75NR7

- RECQ4_MOUSE

UniProt

Q75NR7 - RECQ4_MOUSE

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
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 2 (16 Aug 2005)
      Previous versions | rss
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    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

    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-SubCell
    2. nucleus Source: UniProtKB-SubCell

    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

    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.
    KOiK10730.
    OrthoDBiEOG7ZPNJ7.
    PhylomeDBiQ75NR7.
    TreeFamiTF324150.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    4.10.60.10. 1 hit.
    InterProiIPR011545. 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]
    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

    MERLATVRAR LQEWERAFAR LHGRRPAKGD VEAAPEETRA LYREYRNLKQ     50
    AVRQADDRHR VLEQSLAEAA EEAQEPSCWG PHLSRAATQN TQSMPKQSLL 100
    SSVQDYGKRL KANLKNTTQT GPTQSRKLQL QKRSLSTVPA PRPPGSKTES 150
    PCPDEADDAL PRVPEPRPRL GQLQQLRSSL SRRLTSLDPG WLERCHNRVS 200
    DLLEVPGACG LDLSAEESQP QMSGKVNIAD PDIQSEVSVQ SPEAIAQQPA 250
    QVLSQSPKSI NSKGRKRKWN EKGEDFAQDQ PSSGAGPLSE GARATVHGQD 300
    PPGEPTQVNV PQPCNSSNQA RTEKAKGTTH LHASPRPASL DRGNYIRLNM 350
    KNKRFVRVGA NRGRLLRKQV WKQKWKKKQA AFGGSGPRAT DKDTCFRCGQ 400
    FGHWASQCSQ PGPTLTVQEE GDRDDKQPIS TLEEVAQRTG TASCHHSGEE 450
    TQPAAPELQV PHCPTPMSPL YPPGPLGQVA ETPAEVFQAL ERLGYRAFRP 500
    GQERAIMRIL SGISTLLVLP TGAGKSLCYQ LPALLYAQRS PCLTLVVSPL 550
    LSLMDDQVSD LPSCLKAACL HSGMTKKQRE SVLKKVRAAQ VHVLIVSPEA 600
    LVGCGARGPG SLPQAAQLPP IAFACIDEVH CLSQWSHNFR PCYLRVCKVL 650
    REHMGVRCFL GLTATATRST ARDVAQHLGI AGEFELSGSA NIPANLHLSV 700
    SMDRDSDQAL VTLLQGDRFR TLDSVIIYCT RERIQNGWLA LLRTCLSMVG 750
    DSRPRGCGPE AIAEAYHAGM SSQERRRVQQ AFMRGHLRMV VATVAFGMGL 800
    DRPDVRAVLH LGLPPSFESY VQAIGRAGRD GKPAHCHLFM HPQGEDLWEL 850
    RRHAHADSTD FLAVKRLVQR VFPPCTCSQR PVSKSSPEEV KEHSGQQTYP 900
    VLGQACLGHE RALPVQSTVQ ALDMTEEAIE TLLCYLELHP RHWLELLPWT 950
    YAQCHLHCLG GSAQLQALAH RCPPLAACQA KWPPKDTSQG RSSLEFGVVE 1000
    LADSMGWKLA SVRQALHQLK WDPEPKKGAA QGTGVLVKFS ELAFHLHSRG 1050
    DLTDEEKDQI CDFLYNRVQA REHKALAHLH QMSKAFRSVA FPSCGPCLEQ 1100
    SNEEHSNQVK TLVSYYFEEE EEEEETMTDT QGPKPGQTQL QDWEDQIRRD 1150
    VRQLLSLRPE ERFSGRAVAR IFHGIASPCY PAQVYGLDRR FWRKYLHLDF 1200
    HALMHLATEE LLLRGR 1216
    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

    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.
    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. 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 ]
    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 1, 2014
    This is version 93 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