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{{Infobox_gene}}
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'''ATP-dependent DNA helicase Q1''' is an [[enzyme]] that in humans is encoded by the ''RECQL'' [[gene]].<ref name="pmid7527136">{{cite journal |vauthors=Seki M, Miyazawa H, Tada S, Yanagisawa J, Yamaoka T, Hoshino S, Ozawa K, Eki T, Nogami M, Okumura K, etal | title = Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12 | journal = Nucleic Acids Res | volume = 22 | issue = 22 | pages = 4566–73 |date=January 1995 | pmid = 7527136 | pmc = 308502 | doi =10.1093/nar/22.22.4566 }}</ref><ref name="pmid7961977">{{cite journal |vauthors=Puranam KL, Blackshear PJ | title = Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ | journal = J Biol Chem | volume = 269 | issue = 47 | pages = 29838–45 |date=December 1994 | pmid = 7961977 | pmc =  | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RECQL RecQ protein-like (DNA helicase Q1-like)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5965| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
  | image =
| image_source =
| PDB =
| Name = RecQ protein-like (DNA helicase Q1-like)
| HGNCid = 9948
| Symbol = RECQL
| AltSymbols =; RECQL1; RecQ1
| OMIM = 600537
| ECnumber =
| Homologene = 56279
| MGIid = 103021
| GeneAtlas_image1 = PBB_GE_RECQL_205091_x_at_tn.png
| GeneAtlas_image2 = PBB_GE_RECQL_210568_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_RECQL_212917_x_at_tn.png
  | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0004003 |text = ATP-dependent DNA helicase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006281 |text = DNA repair}} {{GNF_GO|id=GO:0006310 |text = DNA recombination}}
  | Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5965
    | Hs_Ensembl = ENSG00000004700
    | Hs_RefseqProtein = NP_002898
    | Hs_RefseqmRNA = NM_002907
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 12
    | Hs_GenLoc_start = 21513983
    | Hs_GenLoc_end = 21545796
    | Hs_Uniprot = P46063
    | Mm_EntrezGene = 19691
    | Mm_Ensembl = ENSMUSG00000030243
    | Mm_RefseqmRNA = NM_023042
    | Mm_RefseqProtein = NP_075529
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 142307733
    | Mm_GenLoc_end = 142335588
    | Mm_Uniprot = Q3TPI5
  }}
}}
'''RecQ protein-like (DNA helicase Q1-like)''', also known as '''RECQL''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RECQL RecQ protein-like (DNA helicase Q1-like)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5965| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described.<ref name="entrez">{{cite web | title = Entrez Gene: RECQL RecQ protein-like (DNA helicase Q1-like)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5965| accessdate = }}</ref>
| summary_text = The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described.<ref name="entrez" />
}}
}}
==Interactions==
RECQL has been shown to [[Protein-protein interaction|interact]] with [[KPNA4]]<ref name=pmid9168958>{{cite journal |last=Seki |first=T |authorlink= |author2=Tada S |author3=Katada T |author4=Enomoto T  |date=May 1997 |title=Cloning of a cDNA encoding a novel importin-alpha homologue, Qip1: discrimination of Qip1 and Rch1 from hSrp1 by their ability to interact with DNA helicase Q1/RecQL |journal=Biochem. Biophys. Res. Commun. |volume=234 |issue=1 |pages=48–53 |publisher= |location = UNITED STATES| issn = 0006-291X| pmid = 9168958 |doi = 10.1006/bbrc.1997.6535 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref> and [[Karyopherin alpha 2]].<ref name=pmid9168958/>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Seki M, Miyazawa H, Tada S, ''et al.'' |title=Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12. |journal=Nucleic Acids Res. |volume=22 |issue= 22 |pages= 4566-73 |year= 1995 |pmid= 7527136 |doi=  }}
*{{cite journal   |vauthors=Puranam KL, Kennington E, Sait SN, etal |title=Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue |journal=Genomics |volume=26 |issue= 3 |pages= 595–8 |year= 1995 |pmid= 7607686 |doi=10.1016/0888-7543(95)80181-K }}
*{{cite journal  | author=Puranam KL, Kennington E, Sait SN, ''et al.'' |title=Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue. |journal=Genomics |volume=26 |issue= 3 |pages= 595-8 |year= 1995 |pmid= 7607686 |doi= }}
*{{cite journal   |vauthors=Seki M, Yanagisawa J, Kohda T, etal |title=Purification of two DNA-dependent adenosinetriphosphatases having DNA helicase activity from HeLa cells and comparison of the properties of the two enzymes |journal=J. Biochem. |volume=115 |issue= 3 |pages= 523–31 |year= 1994 |pmid= 8056767 |doi=  }}
*{{cite journal  | author=Puranam KL, Blackshear PJ |title=Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. |journal=J. Biol. Chem. |volume=269 |issue= 47 |pages= 29838-45 |year= 1994 |pmid= 7961977 |doi= }}
*{{cite journal  |vauthors=Seki T, Tada S, Katada T, Enomoto T |title=Cloning of a cDNA encoding a novel importin-alpha homologue, Qip1: discrimination of Qip1 and Rch1 from hSrp1 by their ability to interact with DNA helicase Q1/RecQL |journal=Biochem. Biophys. Res. Commun. |volume=234 |issue= 1 |pages= 48–53 |year= 1997 |pmid= 9168958 |doi= 10.1006/bbrc.1997.6535 }}
*{{cite journal | author=Seki M, Yanagisawa J, Kohda T, ''et al.'' |title=Purification of two DNA-dependent adenosinetriphosphatases having DNA helicase activity from HeLa cells and comparison of the properties of the two enzymes. |journal=J. Biochem. |volume=115 |issue= 3 |pages= 523-31 |year= 1994 |pmid= 8056767 |doi=  }}
*{{cite journal   |vauthors=Weinmann AS, Yan PS, Oberley MJ, etal |title=Isolating human transcription factor targets by coupling chromatin immunoprecipitation and CpG island microarray analysis |journal=Genes Dev. |volume=16 |issue= 2 |pages= 235–44 |year= 2002 |pmid= 11799066 |doi= 10.1101/gad.943102 | pmc=155318 }}
*{{cite journal  | author=Seki T, Tada S, Katada T, Enomoto T |title=Cloning of a cDNA encoding a novel importin-alpha homologue, Qip1: discrimination of Qip1 and Rch1 from hSrp1 by their ability to interact with DNA helicase Q1/RecQL. |journal=Biochem. Biophys. Res. Commun. |volume=234 |issue= 1 |pages= 48-53 |year= 1997 |pmid= 9168958 |doi= 10.1006/bbrc.1997.6535 }}
*{{cite journal  |vauthors=Zhang AH, Xi X |title=Molecular cloning of a splicing variant of human RECQL helicase |journal=Biochem. Biophys. Res. Commun. |volume=298 |issue= 5 |pages= 789–92 |year= 2003 |pmid= 12419324 |doi=10.1016/S0006-291X(02)02542-1 }}
*{{cite journal | author=Weinmann AS, Yan PS, Oberley MJ, ''et al.'' |title=Isolating human transcription factor targets by coupling chromatin immunoprecipitation and CpG island microarray analysis. |journal=Genes Dev. |volume=16 |issue= 2 |pages= 235-44 |year= 2002 |pmid= 11799066 |doi= 10.1101/gad.943102 }}
*{{cite journal   |vauthors=Cui S, Klima R, Ochem A, etal |title=Characterization of the DNA-unwinding activity of human RECQ1, a helicase specifically stimulated by human replication protein A |journal=J. Biol. Chem. |volume=278 |issue= 3 |pages= 1424–32 |year= 2003 |pmid= 12419808 |doi= 10.1074/jbc.M209407200 }}
*{{cite journal  | author=Zhang AH, Xi X |title=Molecular cloning of a splicing variant of human RECQL helicase. |journal=Biochem. Biophys. Res. Commun. |volume=298 |issue= 5 |pages= 789-92 |year= 2003 |pmid= 12419324 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M }}
*{{cite journal | author=Cui S, Klima R, Ochem A, ''et al.'' |title=Characterization of the DNA-unwinding activity of human RECQ1, a helicase specifically stimulated by human replication protein A. |journal=J. Biol. Chem. |volume=278 |issue= 3 |pages= 1424-32 |year= 2003 |pmid= 12419808 |doi= 10.1074/jbc.M209407200 }}
*{{cite journal   |vauthors=Cui S, Arosio D, Doherty KM, etal |title=Analysis of the unwinding activity of the dimeric RECQ1 helicase in the presence of human replication protein A |journal=Nucleic Acids Res. |volume=32 |issue= 7 |pages= 2158–70 |year= 2004 |pmid= 15096578 |doi= 10.1093/nar/gkh540 | pmc=407823 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Cui S, Arosio D, Doherty KM, ''et al.'' |title=Analysis of the unwinding activity of the dimeric RECQ1 helicase in the presence of human replication protein A. |journal=Nucleic Acids Res. |volume=32 |issue= 7 |pages= 2158-70 |year= 2004 |pmid= 15096578 |doi= 10.1093/nar/gkh540 }}
*{{cite journal   |vauthors=Doherty KM, Sharma S, Uzdilla LA, etal |title=RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination |journal=J. Biol. Chem. |volume=280 |issue= 30 |pages= 28085–94 |year= 2005 |pmid= 15886194 |doi= 10.1074/jbc.M500265200 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Sharma S, Sommers JA, Choudhary S, etal |title=Biochemical analysis of the DNA unwinding and strand annealing activities catalyzed by human RECQ1 |journal=J. Biol. Chem. |volume=280 |issue= 30 |pages= 28072–84 |year= 2005 |pmid= 15899892 |doi= 10.1074/jbc.M500264200 }}
*{{cite journal | author=Doherty KM, Sharma S, Uzdilla LA, ''et al.'' |title=RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination. |journal=J. Biol. Chem. |volume=280 |issue= 30 |pages= 28085-94 |year= 2005 |pmid= 15886194 |doi= 10.1074/jbc.M500265200 }}
*{{cite journal   |vauthors=LeRoy G, Carroll R, Kyin S, etal |title=Identification of RecQL1 as a Holliday junction processing enzyme in human cell lines |journal=Nucleic Acids Res. |volume=33 |issue= 19 |pages= 6251–7 |year= 2005 |pmid= 16260474 |doi= 10.1093/nar/gki929 | pmc=1275589 }}
*{{cite journal | author=Sharma S, Sommers JA, Choudhary S, ''et al.'' |title=Biochemical analysis of the DNA unwinding and strand annealing activities catalyzed by human RECQ1. |journal=J. Biol. Chem. |volume=280 |issue= 30 |pages= 28072-84 |year= 2005 |pmid= 15899892 |doi= 10.1074/jbc.M500264200 }}
*{{cite journal   |vauthors=Muzzolini L, Beuron F, Patwardhan A, etal |title=Different quaternary structures of human RECQ1 are associated with its dual enzymatic activity |journal=PLoS Biol. |volume=5 |issue= 2 |pages= e20 |year= 2007 |pmid= 17227144 |doi= 10.1371/journal.pbio.0050020 | pmc=1769423 }}
*{{cite journal | author=LeRoy G, Carroll R, Kyin S, ''et al.'' |title=Identification of RecQL1 as a Holliday junction processing enzyme in human cell lines. |journal=Nucleic Acids Res. |volume=33 |issue= 19 |pages= 6251-7 |year= 2005 |pmid= 16260474 |doi= 10.1093/nar/gki929 }}
*{{cite journal   |vauthors=Xie J, Bessling SL, Cooper TK, etal |title=Manipulating mitotic recombination in the zebrafish embryo through RecQ helicases |journal=Genetics |volume=176 |issue= 2 |pages= 1339–42 |year= 2007 |pmid= 17483412 |doi= 10.1534/genetics.107.072983 | pmc=1894594 }}
*{{cite journal | author=Muzzolini L, Beuron F, Patwardhan A, ''et al.'' |title=Different quaternary structures of human RECQ1 are associated with its dual enzymatic activity. |journal=PLoS Biol. |volume=5 |issue= 2 |pages= e20 |year= 2007 |pmid= 17227144 |doi= 10.1371/journal.pbio.0050020 }}
*{{cite journal | author=Xie J, Bessling SL, Cooper TK, ''et al.'' |title=Manipulating mitotic recombination in the zebrafish embryo through RecQ helicases. |journal=Genetics |volume=176 |issue= 2 |pages= 1339-42 |year= 2007 |pmid= 17483412 |doi= 10.1534/genetics.107.072983 }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 01:38, 26 June 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

ATP-dependent DNA helicase Q1 is an enzyme that in humans is encoded by the RECQL gene.[1][2][3]

The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described.[3]

Interactions

RECQL has been shown to interact with KPNA4[4] and Karyopherin alpha 2.[4]

References

  1. ↑ Seki M, Miyazawa H, Tada S, Yanagisawa J, Yamaoka T, Hoshino S, Ozawa K, Eki T, Nogami M, Okumura K, et al. (January 1995). "Molecular cloning of cDNA encoding human DNA helicase Q1 which has homology to Escherichia coli Rec Q helicase and localization of the gene at chromosome 12p12". Nucleic Acids Res. 22 (22): 4566–73. doi:10.1093/nar/22.22.4566. PMC 308502. PMID 7527136.
  2. ↑ Puranam KL, Blackshear PJ (December 1994). "Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ". J Biol Chem. 269 (47): 29838–45. PMID 7961977.
  3. ↑ 3.0 3.1 "Entrez Gene: RECQL RecQ protein-like (DNA helicase Q1-like)".
  4. ↑ 4.0 4.1 Seki, T; Tada S; Katada T; Enomoto T (May 1997). "Cloning of a cDNA encoding a novel importin-alpha homologue, Qip1: discrimination of Qip1 and Rch1 from hSrp1 by their ability to interact with DNA helicase Q1/RecQL". Biochem. Biophys. Res. Commun. UNITED STATES. 234 (1): 48–53. doi:10.1006/bbrc.1997.6535. ISSN 0006-291X. PMID 9168958.

Further reading



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