• Gene id: 79039

Gene Summary

• Gene Symbol: DDX54   Gene   UCSC   Ensembl
• Aliases: DP97
• Gene name: DEAD-box helicase 54
• Alternate names: ATP-dependent RNA helicase DDX54, ATP-dependent RNA helicase DP97, DEAD (Asp-Glu-Ala-Asp) box polypeptide 54, DEAD box RNA helicase 97 kDa, DEAD box helicase 97 KDa, DEAD box protein 54,
• Gene location: 12q24.13 (113185477: 113157172)     Exons: 20     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA second
• OMIM: 606236

Protein Summary

• Protein general information: Q8TDD1  
  • Name: ATP dependent RNA helicase DDX54 (EC 3.6.4.13) (ATP dependent RNA helicase DP97) (DEAD box RNA helicase 97 kDa) (DEAD box protein 54)
  • Length: 881  
  • Mass: 98595
• Sequence:

  MAADKGPAAGPRSRAAMAQWRKKKGLRKRRGAASQARGSDSEDGEFEIQAEDDARARKLGPGRPLPTFPTSECTS
  DVEPDTREMVRAQNKKKKKSGGFQSMGLSYPVFKGIMKKGYKVPTPIQRKTIPVILDGKDVVAMARTGSGKTACF
  LLPMFERLKTHSAQTGARALILSPTRELALQTLKFTKELGKFTGLKTALILGGDRMEDQFAALHENPDIIIATPG
  RLVHVAVEMSLKLQSVEYVVFDEADRLFEMGFAEQLQEIIARLPGGHQTVLFSATLPKLLVEFARAGLTEPVLIR
  LDVDTKLNEQLKTSFFLVREDTKAAVLLHLLHNVVRPQDQTVVFVATKHHAEYLTELLTTQRVSCAHIYSALDPT
  ARKINLAKFTLGKCSTLIVTDLAARGLDIPLLDNVINYSFPAKGKLFLHRVGRVARAGRSGTAYSLVAPDEIPYL
  LDLHLFLGRSLTLARPLKEPSGVAGVDGMLGRVPQSVVDEEDSGLQSTLEASLELRGLARVADNAQQQYVRSRPA
  PSPESIKRAKEMDLVGLGLHPLFSSRFEEEELQRLRLVDSIKNYRSRATIFEINASSRDLCSQVMRAKRQKDRKA
  IARFQQGQQGRQEQQEGPVGPAPSRPALQEKQPEKEEEEEAGESVEDIFSEVVGRKRQRSGPNRGAKRRREEARQ
  RDQEFYIPYRPKDFDSERGLSISGEGGAFEQQAAGAVLDLMGDEAQNLTRGRQQLKWDRKKKRFVGQSGQEDKKK
  IKTESGRYISSSYKRDLYQKWKQKQKIDDRDSDEEGASDRRGPERRGGKRDRGQGASRPHAPGTPAGRVRPELKT
  KQQILKQRRRAQKLHFLQRGGLKQLSARNRRRVQELQQGAFGRGARSKKGKMRKRM

• Structural information:
  • Protein Domains: (127..29-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (326..47-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542"-)
  • Interpro: IPR012541  IPR033517  IPR011545  IPR014001  IPR001650   IPR027417  IPR000629  IPR014014  
  • Prosite: PS00039 PS51192 PS51194 PS51195
  • STRING: ENSP00000323858
• Other Databases: GeneCards:  DDX54  Malacards:  DDX54

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IBA	cellular component
GO:0006364	rRNA processing	IBA	biological process
GO:0003724	RNA helicase activity	IBA	molecular function
GO:0003723	RNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase 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:0003723	RNA binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:0030331	estrogen receptor binding	IDA	molecular function
GO:0005102	signaling receptor binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003724	RNA helicase activity	IDA	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0006396	RNA processing	IDA	biological process
GO:0016070	RNA metabolic process	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0030520	intracellular estrogen receptor signaling pathway	TAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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