Version 5.4
Homo sapiens Gene: RECQL4
Summary
InnateDB Gene IDBG-41326.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RECQL4
Gene Name RecQ protein-like 4
Synonyms RECQ4
Species Homo sapiens
Ensembl Gene ENSG00000160957
Encoded Proteins
IDBP-808910
RecQ protein-like 4
IDBP-808912
RecQ protein-like 4
IDBP-808913
RecQ protein-like 4
IDBP-808915
RecQ protein-like 4
IDBP-808917
RecQ protein-like 4
IDBP-808919
RecQ protein-like 4
IDBP-808901
RecQ protein-like 4
IDBP-808909
RecQ protein-like 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:144511288-144517845
Strand Reverse strand
Band q24.3
Transcripts
ENST00000301323 ENSP00000476426
ENST00000531875 ENSP00000477910
ENST00000529424
ENST00000534626 ENSP00000477457
ENST00000532846 ENSP00000476551
ENST00000524998 ENSP00000476579
ENST00000534538 ENSP00000476318
ENST00000534270
ENST00000621189 ENSP00000483145
ENST00000617875 ENSP00000482313
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 16 [view]
Protein-DNA 5 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003676 nucleic acid binding
GO:0005524 ATP binding
GO:0008026 ATP-dependent helicase activity
GO:0008270 zinc ion binding
Biological Process
GO:0001501 skeletal system development
GO:0006200 ATP catabolic process
GO:0006310 DNA recombination
GO:0008284 positive regulation of cell proliferation
GO:0043473 pigmentation
GO:0045875 negative regulation of sister chromatid cohesion
GO:0048705 skeletal system morphogenesis
Cellular Component
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL U3KQ17
UniProt Splice Variant
Entrez Gene 9401
UniGene
RefSeq NM_004260
HUGO HGNC:9949
OMIM 603780
CCDS CCDS75804
HPRD
IMGT
EMBL AC084125
GenPept
RNA Seq Atlas 9401

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca