RECQL

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RECQL
Protein RECQL PDB 2V1X.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRECQL, RECQL1, RecQ1, RecQ like helicase
External IDsMGI: 103021 HomoloGene: 56279 GeneCards: RECQL
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for RECQL
Genomic location for RECQL
Band12p12.1Start21,468,911 bp[1]
End21,501,669 bp[1]
RNA expression pattern
PBB GE RECQL 212917 x at fs.png

PBB GE RECQL 210568 s at fs.png

PBB GE RECQL 205091 x at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002907
NM_032941

NM_001204906
NM_001204907
NM_023042
NM_001355511

RefSeq (protein)

NP_002898
NP_116559

NP_001191835
NP_001191836
NP_075529
NP_001342440

Location (UCSC)Chr 12: 21.47 – 21.5 MbChr 6: 142.35 – 142.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ATP-dependent DNA helicase Q1 is an enzyme that in humans is encoded by the RECQL gene.[5][6][7]

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.[7]

Interactions[edit]

RECQL has been shown to interact with KPNA4[8] and Karyopherin alpha 2.[8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000004700 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030243 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: RECQL RecQ protein-like (DNA helicase Q1-like)".
  8. ^ a b 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[edit]