• Gene id: 8438

Gene Summary

• Gene Symbol: RAD54L   Gene   UCSC   Ensembl
• Aliases: HR54, RAD54A, hHR54, hRAD54
• Gene name: RAD54 like
• Alternate names: DNA repair and recombination protein RAD54-like, RAD54 homolog,
• Gene location: 1p34.1 (46247687: 46278476)     Exons: 19     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to pla
• OMIM: 603454

Protein Summary

• Protein general information: Q92698  
  • Name: DNA repair and recombination protein RAD54 like (EC 3.6.4. ) (RAD54 homolog) (hHR54) (hRAD54)
  • Length: 747  
  • Mass: 84352
• Sequence:

  MRRSLAPSQLAKRKPEGRSCDDEDWQPGLVTPRKRKSSSETQIQECFLSPFRKPLSQLTNQPPCLDSSQHEAFIR
  SILSKPFKVPIPNYQGPLGSRALGLKRAGVRRALHDPLEKDALVLYEPPPLSAHDQLKLDKEKLPVHVVVDPILS
  KVLRPHQREGVKFLWECVTSRRIPGSHGCIMADEMGLGKTLQCITLMWTLLRQSPECKPEIDKAVVVSPSSLVKN
  WYNEVGKWLGGRIQPLAIDGGSKDEIDQKLEGFMNQRGARVSSPILIISYETFRLHVGVLQKGSVGLVICDEGHR
  LKNSENQTYQALDSLNTSRRVLISGTPIQNDLLEYFSLVHFVNSGILGTAHEFKKHFELPILKGRDAAASEADRQ
  LGEERLRELTSIVNRCLIRRTSDILSKYLPVKIEQVVCCRLTPLQTELYKRFLRQAKPAEELLEGKMSVSSLSSI
  TSLKKLCNHPALIYDKCVEEEDGFVGALDLFPPGYSSKALEPQLSGKMLVLDYILAVTRSRSSDKVVLVSNYTQT
  LDLFEKLCRARRYLYVRLDGTMSIKKRAKVVERFNSPSSPDFVFMLSSKAGGCGLNLIGANRLVMFDPDWNPAND
  EQAMARVWRDGQKKTCYIYRLLSAGTIEEKIFQRQSHKKALSSCVVDEEQDVERHFSLGELKELFILDEASLSDT
  HDRLHCRRCVNSRQIRPPPDGSDCTSDLAGWNHCTDKWGLRDEVLQAAWDAASTAITFVFHQRSHEEQRGLR

• Structural information:
  • Protein Domains: (170..34-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (500..65-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR014001  IPR001650  IPR027417  IPR038718  IPR000330  
  • Prosite: PS51192 PS51194
  • DIP: 48628
  • STRING: ENSP00000361043
• Other Databases: GeneCards:  RAD54L  Malacards:  RAD54L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0007131	reciprocal meiotic recombination	IBA	biological process
GO:0015616	DNA translocase activity	IBA	molecular function
GO:0045003	double-strand break repair via synthesis-dependent strand annealing	IBA	biological process
GO:0036310	annealing helicase activity	IDA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006310	DNA recombination	TAS	biological process
GO:0006281	DNA repair	TAS	biological process
GO:0051321	meiotic cell cycle	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0051276	chromosome organization	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006302	double-strand break repair	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000733	DNA strand renaturation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032991	protein-containing complex	IMP	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03440	Homologous recombination

Diseases

Associated diseases	References
pancreatic cancer	PMID:16540687
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray