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ATP-dependent DNA helicase Q4; DNA helicase, recQ-like type 4; recQ4; RTS; recQ protein-like 4 (RECQL4, RECQ4)
Function:
- DNA-dependent ATPase
- may modulate chromosome segregation
- interacts with UBR1 & UBR2
- interacts with MCM10
- interaction regulates RECQL4 unwinding activity
Structure:
- belongs to the helicase family, recQ subfamily
- contains 1 helicase ATP-binding domain
- contains 1 helicase C-terminal domain
Compartment: cytoplasm. nucleus
Expression:
- ubiquitously expressed
- highest levels in thymus & testis
- up-regulated in actively dividing cells
Pathology:
- defects in RECQL4 are a cause of
a) Rothmund-Thomson syndrome
b) RAPADILINO syndrome
c) Baller-Gerold syndrome
Related
Rothman-Thomson syndrome
General
helicase (DNA unwinding protein, DNA untwisting protein)
Properties
SIZE: entity length = 1208 aa
MW = 133 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: helicase
NAME: helicase
SITE: 489-662
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 502-509
DEAD/H box
NAME: DEAD/H box
SITE: 605-608
DNA-binding motif
active site
MOTIF: P-loop
FOR-BINDING-OF: adenosine triphosphate
Helicase C-terminal {683-850}
Database Correlations
OMIM correlations
UniProt O94761
PFAM correlations
Entrez Gene 9401
Kegg hsa:9401
ENZYME =3.6.4.12
References
- UniProt :accession O94761
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/RECQL4ID285.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/RECQL4
- NIEHS-SNPs
http://egp.gs.washington.edu/data/recql4/