REPAIRtoire - a database of DNA repair pathways

Welcome! Click here to login or here to register.
Home
Proteins
DNA damage
Diseases
Homologs
Pathways
Keywords
Publications
Draw a picture
 
Search
 
Links
Help
Contact





Bujnicki Lab Homepage

RECQL

RecQ protein-like (DNA helicase Q1-like)

On chromosome: 12p12
Known also as: RecQ1; RECQL1;


NCBI Gene ID: 5965
NCBI Ensembl Id: ENSG00000004700
MIM Id: (from NCBI OMIM database) 600537
Species: Homo sapiens

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. [provided by RefSeq]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Authors Title Journal
Puranam KL, Blackshear PJ Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. J Biol Chem Nov. 25, 1994
Kume T, Jiang H, Topczewska JM, Hogan BL The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis. Genes Dev Sept. 15, 2001
Doherty KM, Sharma S, Uzdilla LA, Wilson TM, Cui S, Vindigni A, Brosh RM Jr RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination. J Biol Chem July 1, 2005
Xu X, Liu Y Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. EMBO J March 4, 2009

Last modification of this entry: Oct. 6, 2010.

Add your own comment!

There is no comment yet.
Welcome stranger! Click here to login or here to register.
Valid HTML 4.01! This site is Emacs powered. Made with Django.