DDX54 (DEAD-box helicase 54)

Gene

• Entrez ID: 79039
• Gene name: DEAD-box helicase 54
• Gene symbol: DDX54
• Synonyms: DP97
• Chromosome: 12
• Chromosome location: 12q24.13
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs148961522	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs764707570	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs777276705	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026599	hsa-miR-192-5p	Sequencing	20371350
MIRT031772	hsa-miR-16-5p	Proteomics	18668040
MIRT047683	hsa-miR-10a-5p	CLASH	23622248
MIRT042275	hsa-miR-484	CLASH	23622248
MIRT038067	hsa-miR-423-5p	CLASH	23622248
MIRT037544	hsa-miR-744-5p	CLASH	23622248
MIRT931166	hsa-miR-1237	CLIP-seq
MIRT931167	hsa-miR-1245b-3p	CLIP-seq
MIRT931168	hsa-miR-125a-3p	CLIP-seq
MIRT931169	hsa-miR-125a-5p	CLIP-seq
MIRT931170	hsa-miR-125b	CLIP-seq
MIRT931171	hsa-miR-1261	CLIP-seq
MIRT931172	hsa-miR-1266	CLIP-seq
MIRT931173	hsa-miR-128	CLIP-seq
MIRT931174	hsa-miR-1292	CLIP-seq
MIRT931175	hsa-miR-130a	CLIP-seq
MIRT931176	hsa-miR-130b	CLIP-seq
MIRT931177	hsa-miR-15a	CLIP-seq
MIRT931178	hsa-miR-15b	CLIP-seq
MIRT931179	hsa-miR-16	CLIP-seq
MIRT931180	hsa-miR-1825	CLIP-seq
MIRT931181	hsa-miR-1827	CLIP-seq
MIRT931182	hsa-miR-1912	CLIP-seq
MIRT931183	hsa-miR-195	CLIP-seq
MIRT931184	hsa-miR-219-1-3p	CLIP-seq
MIRT931185	hsa-miR-2277-3p	CLIP-seq
MIRT931186	hsa-miR-27a	CLIP-seq
MIRT931187	hsa-miR-27b	CLIP-seq
MIRT931188	hsa-miR-2861	CLIP-seq
MIRT931189	hsa-miR-301a	CLIP-seq
MIRT931190	hsa-miR-301b	CLIP-seq
MIRT931191	hsa-miR-3127-5p	CLIP-seq
MIRT931192	hsa-miR-3177-3p	CLIP-seq
MIRT931193	hsa-miR-3182	CLIP-seq
MIRT931194	hsa-miR-3184	CLIP-seq
MIRT931195	hsa-miR-3187-3p	CLIP-seq
MIRT931196	hsa-miR-361-3p	CLIP-seq
MIRT931197	hsa-miR-3665	CLIP-seq
MIRT931198	hsa-miR-3666	CLIP-seq
MIRT931199	hsa-miR-371b-3p	CLIP-seq
MIRT931200	hsa-miR-3918	CLIP-seq
MIRT931201	hsa-miR-3929	CLIP-seq
MIRT931202	hsa-miR-3934	CLIP-seq
MIRT931203	hsa-miR-3944-5p	CLIP-seq
MIRT931204	hsa-miR-424	CLIP-seq
MIRT931205	hsa-miR-4256	CLIP-seq
MIRT931206	hsa-miR-4265	CLIP-seq
MIRT931207	hsa-miR-4268	CLIP-seq
MIRT931208	hsa-miR-4269	CLIP-seq
MIRT931209	hsa-miR-4295	CLIP-seq
MIRT931210	hsa-miR-4296	CLIP-seq
MIRT931211	hsa-miR-4313	CLIP-seq
MIRT931212	hsa-miR-4319	CLIP-seq
MIRT931213	hsa-miR-4322	CLIP-seq
MIRT931214	hsa-miR-4417	CLIP-seq
MIRT931215	hsa-miR-4419b	CLIP-seq
MIRT931216	hsa-miR-4448	CLIP-seq
MIRT931217	hsa-miR-4478	CLIP-seq
MIRT931218	hsa-miR-4518	CLIP-seq
MIRT931219	hsa-miR-451b	CLIP-seq
MIRT931220	hsa-miR-4529-5p	CLIP-seq
MIRT931221	hsa-miR-4539	CLIP-seq
MIRT931222	hsa-miR-454	CLIP-seq
MIRT931223	hsa-miR-4640-5p	CLIP-seq
MIRT931224	hsa-miR-4643	CLIP-seq
MIRT931225	hsa-miR-4645-5p	CLIP-seq
MIRT931226	hsa-miR-4649-3p	CLIP-seq
MIRT931227	hsa-miR-4659a-5p	CLIP-seq
MIRT931228	hsa-miR-4659b-5p	CLIP-seq
MIRT931229	hsa-miR-4671-3p	CLIP-seq
MIRT931230	hsa-miR-4673	CLIP-seq
MIRT931231	hsa-miR-4681	CLIP-seq
MIRT931232	hsa-miR-4682	CLIP-seq
MIRT931233	hsa-miR-4688	CLIP-seq
MIRT931234	hsa-miR-4717-3p	CLIP-seq
MIRT931235	hsa-miR-4722-3p	CLIP-seq
MIRT931236	hsa-miR-4726-5p	CLIP-seq
MIRT931237	hsa-miR-4753-5p	CLIP-seq
MIRT931238	hsa-miR-4755-3p	CLIP-seq
MIRT931239	hsa-miR-4763-5p	CLIP-seq
MIRT931240	hsa-miR-4769-3p	CLIP-seq
MIRT931241	hsa-miR-4802-3p	CLIP-seq
MIRT931242	hsa-miR-497	CLIP-seq
MIRT931243	hsa-miR-5096	CLIP-seq
MIRT931244	hsa-miR-510	CLIP-seq
MIRT931245	hsa-miR-512-3p	CLIP-seq
MIRT931246	hsa-miR-513a-5p	CLIP-seq
MIRT931247	hsa-miR-542-3p	CLIP-seq
MIRT931248	hsa-miR-544b	CLIP-seq
MIRT931249	hsa-miR-571	CLIP-seq
MIRT931250	hsa-miR-646	CLIP-seq
MIRT931251	hsa-miR-657	CLIP-seq
MIRT931252	hsa-miR-663b	CLIP-seq
MIRT931253	hsa-miR-671-5p	CLIP-seq
MIRT931254	hsa-miR-759	CLIP-seq
MIRT931255	hsa-miR-760	CLIP-seq
MIRT931256	hsa-miR-938	CLIP-seq
MIRT931257	hsa-miR-1178	CLIP-seq
MIRT931258	hsa-miR-1208	CLIP-seq
MIRT931167	hsa-miR-1245b-3p	CLIP-seq
MIRT931173	hsa-miR-128	CLIP-seq
MIRT931174	hsa-miR-1292	CLIP-seq
MIRT931259	hsa-miR-1972	CLIP-seq
MIRT931260	hsa-miR-2116	CLIP-seq
MIRT931186	hsa-miR-27a	CLIP-seq
MIRT931187	hsa-miR-27b	CLIP-seq
MIRT931261	hsa-miR-31	CLIP-seq
MIRT931192	hsa-miR-3177-3p	CLIP-seq
MIRT931262	hsa-miR-346	CLIP-seq
MIRT931263	hsa-miR-3611	CLIP-seq
MIRT931264	hsa-miR-3688-5p	CLIP-seq
MIRT931207	hsa-miR-4268	CLIP-seq
MIRT931208	hsa-miR-4269	CLIP-seq
MIRT931265	hsa-miR-4288	CLIP-seq
MIRT931216	hsa-miR-4448	CLIP-seq
MIRT931223	hsa-miR-4640-5p	CLIP-seq
MIRT931225	hsa-miR-4645-5p	CLIP-seq
MIRT931230	hsa-miR-4673	CLIP-seq
MIRT931266	hsa-miR-4677-5p	CLIP-seq
MIRT931231	hsa-miR-4681	CLIP-seq
MIRT931236	hsa-miR-4726-5p	CLIP-seq
MIRT931238	hsa-miR-4755-3p	CLIP-seq
MIRT931267	hsa-miR-493	CLIP-seq
MIRT931268	hsa-miR-503	CLIP-seq
MIRT931243	hsa-miR-5096	CLIP-seq
MIRT931246	hsa-miR-513a-5p	CLIP-seq
MIRT931269	hsa-miR-632	CLIP-seq
MIRT931270	hsa-miR-767-3p	CLIP-seq
MIRT1975557	hsa-miR-1238	CLIP-seq
MIRT931168	hsa-miR-125a-3p	CLIP-seq
MIRT1975558	hsa-miR-1468	CLIP-seq
MIRT931194	hsa-miR-3184	CLIP-seq
MIRT1975559	hsa-miR-4732-3p	CLIP-seq
MIRT1975560	hsa-miR-642b	CLIP-seq
MIRT2211063	hsa-miR-1205	CLIP-seq
MIRT931180	hsa-miR-1825	CLIP-seq
MIRT2211064	hsa-miR-1909	CLIP-seq
MIRT2211065	hsa-miR-3120-5p	CLIP-seq
MIRT2211066	hsa-miR-3689a-3p	CLIP-seq
MIRT2211067	hsa-miR-3689c	CLIP-seq
MIRT931199	hsa-miR-371b-3p	CLIP-seq
MIRT931200	hsa-miR-3918	CLIP-seq
MIRT931201	hsa-miR-3929	CLIP-seq
MIRT931208	hsa-miR-4269	CLIP-seq
MIRT931215	hsa-miR-4419b	CLIP-seq
MIRT2211068	hsa-miR-4426	CLIP-seq
MIRT2211069	hsa-miR-4446-3p	CLIP-seq
MIRT2211070	hsa-miR-4447	CLIP-seq
MIRT2211071	hsa-miR-4472	CLIP-seq
MIRT931217	hsa-miR-4478	CLIP-seq
MIRT2211072	hsa-miR-4492	CLIP-seq
MIRT2211073	hsa-miR-4498	CLIP-seq
MIRT931219	hsa-miR-451b	CLIP-seq
MIRT931223	hsa-miR-4640-5p	CLIP-seq
MIRT931225	hsa-miR-4645-5p	CLIP-seq
MIRT2211074	hsa-miR-4647	CLIP-seq
MIRT2211075	hsa-miR-4662b	CLIP-seq
MIRT931230	hsa-miR-4673	CLIP-seq
MIRT2211076	hsa-miR-4675	CLIP-seq
MIRT2211077	hsa-miR-4721	CLIP-seq
MIRT931236	hsa-miR-4726-5p	CLIP-seq
MIRT2211078	hsa-miR-4728-5p	CLIP-seq
MIRT2211079	hsa-miR-4741	CLIP-seq
MIRT2211080	hsa-miR-4747-5p	CLIP-seq
MIRT931238	hsa-miR-4755-3p	CLIP-seq
MIRT2211081	hsa-miR-550a	CLIP-seq
MIRT2211082	hsa-miR-593	CLIP-seq
MIRT2211083	hsa-miR-762	CLIP-seq
MIRT931168	hsa-miR-125a-3p	CLIP-seq
MIRT2448132	hsa-miR-4522	CLIP-seq
MIRT2448133	hsa-miR-4710	CLIP-seq
MIRT2448134	hsa-miR-4727-5p	CLIP-seq
MIRT931238	hsa-miR-4755-3p	CLIP-seq
MIRT931240	hsa-miR-4769-3p	CLIP-seq
MIRT931166	hsa-miR-1237	CLIP-seq
MIRT931167	hsa-miR-1245b-3p	CLIP-seq
MIRT2514941	hsa-miR-1976	CLIP-seq
MIRT931186	hsa-miR-27a	CLIP-seq
MIRT931187	hsa-miR-27b	CLIP-seq
MIRT931193	hsa-miR-3182	CLIP-seq
MIRT931195	hsa-miR-3187-3p	CLIP-seq
MIRT931207	hsa-miR-4268	CLIP-seq
MIRT931216	hsa-miR-4448	CLIP-seq
MIRT931220	hsa-miR-4529-5p	CLIP-seq
MIRT931243	hsa-miR-5096	CLIP-seq
MIRT931246	hsa-miR-513a-5p	CLIP-seq
MIRT931252	hsa-miR-663b	CLIP-seq
MIRT931256	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003714	Function	Transcription corepressor activity	IDA	12466272
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003724	Function	RNA helicase activity	IDA	12466272
GO:0005102	Function	Signaling receptor binding	IDA	12466272
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	12466272
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IBA	21873635
GO:0005730	Component	Nucleolus	IDA	12466272
GO:0005794	Component	Golgi apparatus	IDA
GO:0006364	Process	RRNA processing	IBA	21873635
GO:0006396	Process	RNA processing	IDA	12466272
GO:0016020	Component	Membrane	HDA	19946888
GO:0016070	Process	RNA metabolic process	IDA	12466272
GO:0030331	Function	Estrogen receptor binding	IDA	12466272
GO:0030520	Process	Intracellular estrogen receptor signaling pathway	TAS	12466272
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IEA

Other IDs

• MIM: 611665
• HGNC: 20084
• e!Ensembl: ENSG00000123064

Protein

• UniProt ID: Q8TDD1
• Protein 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)
• Protein function: Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors.
• PDB: 8FKT, 8FKU, 8FKV, 8FKW, 8FKX, 8FKY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00270	DEAD	120 → 288	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	322 → 433	Helicase conserved C-terminal domain	Family
  PF08147	DBP10CT	714 → 774	DBP10CT (NUC160) domain	Domain

• Sequence:

  MAADKGPAAGPRSRAAMAQWRKKKGLRKRRGAASQARGSDSEDGEFEIQAEDDARARKLG
  PGRPLPTFPTSECTSDVEPDTREMVRAQNKKKKKSGGFQSMGLSYPVFKGIMKKGYKVPT
  PIQRKTIPVILDGKDVVAMARTGSGKTACFLLPMFERLKTHSAQTGARALILSPTRELAL
  QTLKFTKELGKFTGLKTALILGGDRMEDQFAALHENPDIIIATPGRLVHVAVEMSLKLQS
  VEYVVFDEADRLFEMGFAEQLQEIIARLPGGHQTVLFSATLPKLLVEFARAGLTEPVLIR
  LDVDTKLNEQLKTSFFLVREDTKAAVLLHLLHNVVRPQDQTVVFVATKHHAEYLTELLTT
  QRVSCAHIYSALDPTARKINLAKFTLGKCSTLIVTDLAARGLDIPLLDNVINYSFPAKGK
  LFLHRVGRVARAGRSGTAYSLVAPDEIPYLLDLHLFLGRSLTLARPLKEPSGVAGVDGML
  GRVPQSVVDEEDSGLQSTLEASLELRGLARVADNAQQQYVRSRPAPSPESIKRAKEMDLV
  GLGLHPLFSSRFEEEELQRLRLVDSIKNYRSRATIFEINASSRDLCSQVMRAKRQKDRKA
  IARFQQGQQGRQEQQEGPVGPAPSRPALQEKQPEKEEEEEAGESVEDIFSEVVGRKRQRS
  GPNRGAKRRREEARQRDQEFYIPYRPKDFDSERGLSISGEGGAFEQQAAGAVLDLMGDEA
  QNLTRGRQQLKWDRKKKRFVGQSGQEDKKKIKTESGRYISSSYKRDLYQKWKQKQKIDDR
  DSDEEGASDRRGPERRGGKRDRGQGASRPHAPGTPAGRVRPELKTKQQILKQRRRAQKLH
  FLQRGGLKQLSARNRRRVQELQQGAFGRGARSKKGKMRKRM

• Sequence length: 881

Associated diseases

Unknown
Disease name	Disease term	dbSNP ID	References
Liver neoplasms	Liver neoplasms		19233941
Liver cancer	Malignant neoplasm of liver		19233941
Sclerocystic ovaries	Sclerocystic Ovaries		21411543
Polycystic ovary syndrome	Polycystic Ovary Syndrome		21411543