• Gene id: 9400

Gene Summary

• Gene Symbol: RECQL5   Gene   UCSC   Ensembl
• Aliases: RECQ5
• Gene name: RecQ like helicase 5
• Alternate names: ATP-dependent DNA helicase Q5, DNA helicase, RecQ-like type 5, RecQ helicase-like 5, RecQ protein-like 5,
• Gene location: 17q25.1 (204152043: 204131061)     Exons: 12     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been foun
• OMIM: 603781

Protein Summary

• Protein general information: O94762  
  • Name: ATP dependent DNA helicase Q5 (EC 3.6.4.12) (DNA helicase, RecQ like type 5) (RecQ5) (RecQ protein like 5)
  • Length: 991  
  • Mass: 108858
  • Tissue specificity: Ubiquitous.
• Sequence:

  MSSHHTTFPFDPERRVRSTLKKVFGFDSFKTPLQESATMAVVKGNKDVFVCMPTGAGKSLCYQLPALLAKGITIV
  VSPLIALIQDQVDHLLTLKVRVSSLNSKLSAQERKELLADLEREKPQTKILYITPEMAASSSFQPTLNSLVSRHL
  LSYLVVDEAHCVSQWGHDFRPDYLRLGALRSRLGHAPCVALTATATPQVQEDVFAALHLKKPVAIFKTPCFRANL
  FYDVQFKELISDPYGNLKDFCLKALGQEADKGLSGCGIVYCRTREACEQLAIELSCRGVNAKAYHAGLKASERTL
  VQNDWMEEKVPVIVATISFGMGVDKANVRFVAHWNIAKSMAGYYQESGRAGRDGKPSWCRLYYSRNDRDQVSFLI
  RKEVAKLQEKRGNKASDKATIMAFDALVTFCEELGCRHAAIAKYFGDALPACAKGCDHCQNPTAVRRRLEALERS
  SSWSKTCIGPSQGNGFDPELYEGGRKGYGDFSRYDEGSGGSGDEGRDEAHKREWNLFYQKQMQLRKGKDPKIEEF
  VPPDENCPLKEASSRRIPRLTVKAREHCLRLLEEALSSNRQSTRTADEADLRAKAVELEHETFRNAKVANLYKAS
  VLKKVADIHRASKDGQPYDMGGSAKSCSAQAEPPEPNEYDIPPASHVYSLKPKRVGAGFPKGSCPFQTATELMET
  TRIREQAPQPERGGEHEPPSRPCGLLDEDGSEPLPGPRGEVPGGSAHYGGPSPEKKAKSSSGGSSLAKGRASKKQ
  QLLATAAHKDSQSIARFFCRRVESPALLASAPEAEGACPSCEGVQGPPMAPEKYTGEEDGAGGHSPAPPQTEECL
  RERPSTCPPRDQGTPEVQPTPAKDTWKGKRPRSQQENPESQPQKRPRPSAKPSVVAEVKGSVSASEQGTLNPTAQ
  DPFQLSAPGVSLKEAANVVVKCLTPFYKEGKFASKELFKGFARHLSHLLTQKTSPGRSVKEEAQNLIRHFFHGRA
  RCESEADWHGLCGPQR

• Structural information:
  • Protein Domains: (39..21-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (241..40-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR002464  IPR004589  IPR014001  IPR001650   IPR027417  IPR010716  IPR032284  
  • Prosite: PS00690 PS51192 PS51194
  • PDB: 4BK0 5LB3 5LB5 5LB8 5LBA
  • PDBsum: 4BK0 5LB3 5LB5 5LB8 5LBA
  • DIP: 32964
  • STRING: ENSP00000317636
• Other Databases: GeneCards:  RECQL5  Malacards:  RECQL5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006268	DNA unwinding involved in DNA replication	IBA	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0032508	DNA duplex unwinding	IBA	biological process
GO:0043138	3'-5' DNA helicase activity	IBA	molecular function
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005694	chromosome	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006310	DNA recombination	IBA	biological process
GO:0009378	four-way junction helicase activity	IBA	molecular function
GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	IDA	biological process
GO:0016591	RNA polymerase II, holoenzyme	IDA	cellular component
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000993	RNA polymerase II complex binding	IDA	molecular function
GO:0000278	mitotic cell cycle	IMP	biological process
GO:0006281	DNA repair	IMP	biological process
GO:0006260	DNA replication	IMP	biological process
GO:0051304	chromosome separation	IMP	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0006281	DNA repair	TAS	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0035690	cellular response to drug	IEA	biological process
GO:2000042	negative regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:1990414	replication-born double-strand break repair via sister chromatid exchange	IEA	biological process
GO:0072757	cellular response to camptothecin	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003678	DNA helicase activity	NAS	molecular function
GO:0006259	DNA metabolic process	NAS	biological process
GO:0005654	nucleoplasm	NAS	cellular component
GO:0005737	cytoplasm	NAS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq