• Gene id: 5965

Gene Summary

• Gene Symbol: RECQL   Gene   UCSC   Ensembl
• Aliases: RECQL1, RecQ1
• Gene name: RecQ like helicase
• Alternate names: ATP-dependent DNA helicase Q1, DNA helicase, RecQ-like type 1, DNA-dependent ATPase Q1, RecQ helicase-like, RecQ protein-like (DNA helicase Q1-like), recQ protein-like 1,
• Gene location: 12p12.1 (29457132: 29464321)     Exons: 6     NC_000006.12
• Gene summary(Entrez): 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. The encoded protein is involved in th
• OMIM: 600537

Protein Summary

• Protein general information: P46063  
  • Name: ATP dependent DNA helicase Q1 (EC 3.6.4.12) (DNA helicase, RecQ like type 1) (RecQ1) (DNA dependent ATPase Q1) (RecQ protein like 1)
  • Length: 649  
  • Mass: 73457
  • Tissue specificity: High expression in heart, lung, skeletal muscle and kidney, low expression in brain. {ECO
• Sequence:

  MASVSALTEELDSITSELHAVEIQIQELTERQQELIQKKKVLTKKIKQCLEDSDAGASNEYDSSPAAWNKEDFPW
  SGKVKDILQNVFKLEKFRPLQLETINVTMAGKEVFLVMPTGGGKSLCYQLPALCSDGFTLVICPLISLMEDQLMV
  LKQLGISATMLNASSSKEHVKWVHAEMVNKNSELKLIYVTPEKIAKSKMFMSRLEKAYEARRFTRIAVDEVHCCS
  QWGHDFRPDYKALGILKRQFPNASLIGLTATATNHVLTDAQKILCIEKCFTFTASFNRPNLYYEVRQKPSNTEDF
  IEDIVKLINGRYKGQSGIIYCFSQKDSEQVTVSLQNLGIHAGAYHANLEPEDKTTVHRKWSANEIQVVVATVAFG
  MGIDKPDVRFVIHHSMSKSMENYYQESGRAGRDDMKADCILYYGFGDIFRISSMVVMENVGQQKLYEMVSYCQNI
  SKCRRVLMAQHFDEVWNSEACNKMCDNCCKDSAFERKNITEYCRDLIKILKQAEELNEKLTPLKLIDSWMGKGAA
  KLRVAGVVAPTLPREDLEKIIAHFLIQQYLKEDYSFTAYATISYLKIGPKANLLNNEAHAITMQVTKSTQNSFRA
  ESSQTCHSEQGDKKMEEKNSGNFQKKAANMLQQSGSKNTGAKKRKIDDA

• Structural information:
  • Protein Domains: (100..27-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (300..45-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR004589  IPR014001  IPR001650  IPR027417   IPR032284  IPR036388  
  • Prosite: PS51192 PS51194
  • PDB: 2V1X 2WWY 4U7D
  • PDBsum: 2V1X 2WWY 4U7D
  • DIP: 29216
  • STRING: ENSP00000416739
• Other Databases: GeneCards:  RECQL  Malacards:  RECQL

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:0036310	annealing helicase activity	IBA	molecular function
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:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003678	DNA helicase activity	IDA	molecular function
GO:0036310	annealing helicase activity	IDA	molecular function
GO:0000733	DNA strand renaturation	IDA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
lung cancer	PMID:18422747
pancreatic cancer	PMID:18422747
hepatocellular carcinoma	PMID:18422747
hepatocellular carcinoma	PMID:18422747
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881