• Gene id: 9401

Gene Summary

• Gene Symbol: RECQL4   Gene   UCSC   Ensembl
• Aliases: RECQ4
• Gene name: RecQ like helicase 4
• Alternate names: ATP-dependent DNA helicase Q4, DNA helicase, RecQ-like, type 4, RecQ helicase-like 4, RecQ protein-like 4,
• Gene location: 8q24.3 (144517832: 144511287)     Exons: 21     NC_000008.11
• Gene summary(Entrez): 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 tes
• OMIM: 605287

Protein Summary

• Protein general information: O94761  
  • Name: ATP dependent DNA helicase Q4 (EC 3.6.4.12) (DNA helicase, RecQ like type 4) (RecQ4) (RTS) (RecQ protein like 4)
  • Length: 1208  
  • Mass: 133067
  • Tissue specificity: Ubiquitously expressed, with highest levels in thymus and testis. {ECO
• Sequence:

  MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLRSSESLPAAAEEAPEP
  RCWGPHLNRAATKSPQSTPGRSRQGSVPDYGQRLKANLKGTLQAGPALGRRPWPLGRASSKASTPKPPGTGPVPS
  FAEKVSDEPPQLPEPQPRPGRLQHLQASLSQRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQLLIPGES
  AVLGPGAGSQGPEASAFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPG
  EPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDRGNYVRLNMKQKHYVRGRALRSRLLR
  KQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPASEEDTDAVGPEPLVPSPQPVPEVPSLDPTV
  LPLYSLGPSGQLAETPAEVFQALEQLGHQAFRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPC
  LTLVVSPLLSLMDDQVSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVA
  FACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAEEPDLHGPAPVPTNLH
  LSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMCS
  RERRRVQRAFMQGQLRVVVATVAFGMGLDRPDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDL
  RELRRHVHADSTDFLAVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGH
  ERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALAHRCPPLAVCLAQQLP
  EDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQ
  ICDFLYGRVQARERQALARLRRTFQAFHSVAFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGP
  EPGQARLQDWEDQVRCDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLAT
  EELLQVAR

• Structural information:
  • Protein Domains: (489..66-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (683..85-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR011545  IPR004589  IPR021110  IPR014001  IPR001650   IPR027417  
  • Prosite: PS51192 PS51194
  • PDB: 2KMU 5LST
  • PDBsum: 2KMU 5LST
  • DIP: 48475
  • STRING: ENSP00000482313
• Other Databases: GeneCards:  RECQL4  Malacards:  RECQL4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043138	3'-5' DNA helicase activity	IBA	molecular function
GO:0032508	DNA duplex unwinding	IBA	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0006268	DNA unwinding involved in DNA replication	IBA	biological process
GO:0000723	telomere maintenance	IBA	biological process
GO:0009378	four-way junction helicase activity	IBA	molecular function
GO:0006310	DNA recombination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005694	chromosome	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IBA	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:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007275	multicellular organism development	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061821	telomeric D-loop binding	IDA	molecular function
GO:0032357	oxidized purine DNA binding	IDA	molecular function
GO:0061820	telomeric D-loop disassembly	IDA	biological process
GO:0004386	helicase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000723	telomere maintenance	IMP	biological process
GO:0006260	DNA replication	IMP	biological process
GO:0000781	chromosome, telomeric region	IMP	cellular component
GO:0032508	DNA duplex unwinding	TAS	biological process
GO:0061820	telomeric D-loop disassembly	IGI	biological process
GO:0061820	telomeric D-loop disassembly	IGI	biological process
GO:0061820	telomeric D-loop disassembly	IGI	biological process
GO:0061820	telomeric D-loop disassembly	IGI	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000405	bubble DNA binding	IDA	molecular function
GO:0000733	DNA strand renaturation	IDA	biological process
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0006260	DNA replication	IDA	biological process
GO:0036310	annealing helicase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0043138	3'-5' DNA helicase activity	IMP	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Syndromic craniosynostoses	KEGG:H00458
Defects in RecQ helicases	KEGG:H00296
RAPADILINO syndrome	KEGG:H00965
Rothmund-Thomson syndrome	KEGG:H01734
Baller-Gerold syndrome	KEGG:H01993
Syndromic craniosynostoses	KEGG:H00458
RAPADILINO syndrome	KEGG:H00965
Rothmund-Thomson syndrome	KEGG:H01734
Baller-Gerold syndrome	KEGG:H01993
Rothmund-Thomson syndrome	PMID:10678659
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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