RECQL5 (RecQ protein-like 5)

2002-04-01   Mounira Amor-Guéret 

Institut Curie - Section de Recherche, UMR 2027 CNRS, Bâtiment 110, Centre Universitaire, F-91405 Orsay Cedex, France

Identity

HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
RECQ5
FUSION GENES

DNA/RNA

Transcription

Three different transcripts : 3715 bases (RecQ5a), 3703 bases (RecQ5b), 1749 bases (RecQ5g).

Proteins

Description

410 amino acids (RecQ5a), 991 amino acids (RecQ5b), 435 amino acids (RecQ5g). The predicted protein structures of all three polypeptides share seven motifs conserved for DNA helicases. RecQ5b contains a large C-terminal region that includes a domain homologous to the non-helicase domain of the E. coli RecQ DNA helicase.

Localisation

RecQ5a and RecQ5g are localized in the cytoplasm, whereas RecQ5b is localized in the nucleus.

Function

Unknown

Homology

Homologous to RecQ helicases, a subfamily of DExH box-containing DNA and RNA helicases. In particular, similarities with the four known human members in the RecQ subfamily, human RecQL, human RecQL4, human BLM, the product of the Bloom syndrome gene and human WRN, the product of the Werner syndrome gene.

Mutations

Note

Not described yet, and correlation with genetic disorder, if any, is unknown.

Implicated in

Bibliography

Pubmed IDLast YearTitleAuthors
110320272000Differential regulation of human RecQ family helicases in cell transformation and cell cycle.Kawabe T et al
98782471998Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.Kitao S et al
107104322000Human RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3alpha and 3beta.Shimamoto A et al

Other Information

Locus ID:

NCBI: 9400
MIM: 603781
HGNC: 9950
Ensembl: ENSG00000108469

Variants:

dbSNP: 9400
ClinVar: 9400
TCGA: ENSG00000108469
COSMIC: RECQL5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108469ENST00000317905O94762
ENSG00000108469ENST00000317905A0A024R8M9
ENSG00000108469ENST00000340830O94762
ENSG00000108469ENST00000420326O94762
ENSG00000108469ENST00000420326A0A024R8S8
ENSG00000108469ENST00000423245O94762
ENSG00000108469ENST00000578201J3KTQ2
ENSG00000108469ENST00000580078J3KSL7
ENSG00000108469ENST00000580707J3QLU0
ENSG00000108469ENST00000581825J3KSV9
ENSG00000108469ENST00000582464J3KRM6
ENSG00000108469ENST00000582548J3KS37
ENSG00000108469ENST00000584999O94762

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

References

Pubmed IDYearTitleCitations
180038592007RECQL5/Recql5 helicase regulates homologous recombination and suppresses tumor formation via disruption of Rad51 presynaptic filaments.164
152414742004Human RECQ5beta, a protein with DNA helicase and strand-annealing activities in a single polypeptide.94
185622742008A RECQ5-RNA polymerase II association identified by targeted proteomic analysis of human chromatin.74
170030562006Human RECQ5beta helicase promotes strand exchange on synthetic DNA structures resembling a stalled replication fork.70
248366102014RECQL5 controls transcript elongation and suppresses genome instability associated with transcription stress.55
203481012010Physical interaction of RECQ5 helicase with RAD51 facilitates its anti-recombinase activity.45
202313642010RecQL5 promotes genome stabilization through two parallel mechanisms--interacting with RNA polymerase II and acting as a helicase.34
195709792009Direct inhibition of RNA polymerase II transcription by RECQL5.32
184195802008Association of human DNA helicase RecQ5beta with RNA polymerase II and its possible role in transcription.28
226451362012A variant of the breast cancer type 2 susceptibility protein (BRC) repeat is essential for the RECQL5 helicase to interact with RAD51 recombinase for genome stabilization.24

Citation

Mounira Amor-Guéret

RECQL5 (RecQ protein-like 5)

Atlas Genet Cytogenet Oncol Haematol. 2002-04-01

Online version: http://atlasgeneticsoncology.org/gene/286/recql5