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Q75NR7

- RECQ4_MOUSE

UniProt

Q75NR7 - RECQ4_MOUSE

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Protein
ATP-dependent DNA helicase Q4
Gene
Recql4, Recq4
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.2 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri393 – 41018CCHC-type
Add
BLAST
Nucleotide bindingi519 – 5268ATP Reviewed prediction

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
Complete GO annotation...

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-SubCell
  2. nucleus Source: UniProtKB-SubCell
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 Q4
PRO_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.

Protein-protein interaction databases

BioGridi219759. 9 interactions.
IntActiQ75NR7. 9 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ75NR7.
SMRiQ75NR7. Positions 1-54.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini506 – 684179Helicase ATP-binding
Add
BLAST
Domaini705 – 872168Helicase C-terminal
Add
BLAST

Motif

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

Sequence similaritiesi

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei843 – 8431Q → QVGSPISPDQDRPRGSTIPR PLQPQLLSCLPVSCRPGPKC GSSVHMTVPMQ in isoform 2.
VSP_015177

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti732 – 7398ERIQNGWL → RKDTERVA in BAD14289. 1 Publication
Sequence conflicti878 – 8781S → G in BAD11131. 1 Publication
Sequence conflicti929 – 9291I → T in BAD11131. 1 Publication
Sequence conflicti937 – 9371E → TK in BAD11131. 1 Publication
Sequence conflicti1111 – 11111T → D in BAD11131. 1 Publication

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...

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: July 9, 2014
This is version 92 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

Similar proteinsi