• Gene id: 25788

Gene Summary

• Gene Symbol: RAD54B   Gene   UCSC   Ensembl
• Aliases: RDH54
• Gene name: RAD54 homolog B
• Alternate names: DNA repair and recombination protein RAD54B,
• Gene location: 8q22.1 (94475114: 94371959)     Exons: 17     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stra
• OMIM: 618649

Protein Summary

• Protein general information: Q9Y620  
  • Name: DNA repair and recombination protein RAD54B (EC 3.6.4. ) (RAD54 homolog B)
  • Length: 910  
  • Mass: 102967
  • Tissue specificity: Abundantly expressed in testis and spleen. Relatively low levels observed in thymus, prostate, ovary and colon. {ECO
• Sequence:

  MRRSAAPSQLQGNSFKKPKFIPPGRSNPGLNEEITKLNPDIKLFEGVAINNTFLPSQNDLRICSLNLPSEESTRE
  INNRDNCSGKYCFEAPTLATLDPPHTVHSAPKEVAVSKEQEEKSDSLVKYFSVVWCKPSKKKHKKWEGDAVLIVK
  GKSFILKNLEGKDIGRGIGYKFKELEKIEEGQTLMICGKEIEVMGVISPDDFSSGRCFQLGGGSTAISHSSQVAR
  KCFSNPFKSVCKPSSKENRQNDFQNCKPRHDPYTPNSLVMPRPDKNHQWVFNKNCFPLVDVVIDPYLVYHLRPHQ
  KEGIIFLYECVMGMRMNGRCGAILADEMGLGKTLQCISLIWTLQCQGPYGGKPVIKKTLIVTPGSLVNNWKKEFQ
  KWLGSERIKIFTVDQDHKVEEFIKSIFYSVLIISYEMLLRSLDQIKNIKFDLLICDEGHRLKNSAIKTTTALISL
  SCEKRIILTGTPIQNDLQEFFALIDFVNPGILGSLSSYRKIYEEPIILSREPSASEEEKELGERRAAELTCLTGL
  FILRRTQEIINKYLPPKIENVVFCRPGALQIELYRKLLNSQVVRFCLQGLLENSPHLICIGALKKLCNHPCLLFN
  SIKEKECSSTCDKNEEKSLYKGLLSVFPADYNPLLFTEKESGKLQVLSKLLAVIHELRPTEKVVLVSNYTQTLNI
  LQEVCKRHGYAYTRLDGQTPISQRQQIVDGFNSQHSSFFIFLLSSKAGGVGLNLIGGSHLILYDIDWNPATDIQA
  MSRVWRDGQKYPVHIYRLLTTGTIEEKIYQRQISKQGLCGAVVDLTKTSEHIQFSVEELKNLFTLHESSDCVTHD
  LLDCECTGEEVHTGDSLEKFIVSRDCQLGPHHQKSNSLKPLSMSQLKQWKHFSGDHLNLTDPFLERITENVSFIF
  QNITTQATGT

• Structural information:
  • Protein Domains: (313..48-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (649..81-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR014001  IPR001650  IPR027417  IPR038718  IPR000330  
  • Prosite: PS51192 PS51194
  • STRING: ENSP00000336606
• Other Databases: GeneCards:  RAD54B  Malacards:  RAD54B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0007131	reciprocal meiotic recombination	IBA	biological process
GO:0015616	DNA translocase activity	IBA	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:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0006312	mitotic recombination	TAS	biological process
GO:0015616	DNA translocase activity	IDA	molecular function
GO:0000724	double-strand break repair via homologous recombination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray