DDX49 (DEAD-box helicase 49)

Gene

• Entrez ID: 54555
• Gene name: DEAD-box helicase 49
• Gene symbol: DDX49
• Synonyms (NCBI Gene): Dbp8, R27090_2
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032226	hsa-let-7b-5p	Proteomics	18668040
MIRT050235	hsa-miR-25-3p	CLASH	23622248
MIRT052803	hsa-miR-3177-3p	CLASH	23622248
MIRT930875	hsa-miR-140-5p	CLIP-seq
MIRT930876	hsa-miR-3202	CLIP-seq
MIRT930877	hsa-miR-331-3p	CLIP-seq
MIRT930878	hsa-miR-4292	CLIP-seq
MIRT930879	hsa-miR-4475	CLIP-seq
MIRT930880	hsa-miR-4676-5p	CLIP-seq
MIRT930881	hsa-miR-4747-5p	CLIP-seq
MIRT930882	hsa-miR-486-5p	CLIP-seq
MIRT930883	hsa-miR-575	CLIP-seq
MIRT930884	hsa-miR-637	CLIP-seq
MIRT1975487	hsa-miR-1184	CLIP-seq
MIRT1975488	hsa-miR-2116	CLIP-seq
MIRT930876	hsa-miR-3202	CLIP-seq
MIRT930877	hsa-miR-331-3p	CLIP-seq
MIRT1975489	hsa-miR-4293	CLIP-seq
MIRT930879	hsa-miR-4475	CLIP-seq
MIRT1975490	hsa-miR-4659a-3p	CLIP-seq
MIRT1975491	hsa-miR-4659b-3p	CLIP-seq
MIRT1975492	hsa-miR-4677-5p	CLIP-seq
MIRT930881	hsa-miR-4747-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IDA	29618122
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	29618122
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0006364	Process	RRNA processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030307	Process	Positive regulation of cell growth	IMP	29618122
GO:0044357	Process	Regulation of rRNA stability	IMP	29618122

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q9Y6V7
• Protein name: Probable ATP-dependent RNA helicase DDX49 (EC 3.6.4.13) (DEAD box protein 49)
• Protein function: ATP-dependent RNA helicase that plays a role in various aspects of RNA metabolism including the regulation of mRNA export and the levels of pre-ribosomal RNA. Regulates the stability and synthesis of pre-ribosomal RNA and thereby regulates cell
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00270	DEAD	26 → 196	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	230 → 343	Helicase conserved C-terminal domain	Family

• Sequence:

  MAGFAELGLSSWLVEQCRQLGLKQPTPVQLGCIPAILEGRDCLGCAKTGSGKTAAFVLPI
  LQKLSEDPYGIFCLVLTPTRELAYQIAEQFRVLGKPLGLKDCIIVGGMDMVAQALELSRK
  PHVVIATPGRLADHLRSSNTFSIKKIRFLVMDEADRLLEQGCTDFTVDLEAILAAVPARR
  QTLLFSATLTDTLRELQGLATNQPFFWEAQAPVSTVEQLDQRYLLVPEKVKDAYLVHLIQ
  RFQDEHEDWSIIIFTNTCKTCQILCMMLRKFSFPTVALHSMMKQKERFAALAKFKSSIYR
  ILIATDVASRGLDIPTVQVVINHNTPGLPKIYIHRVGRTARAGRQGQAITLVTQYDIHLV
  HAIEEQIKKKLEEFSVEEAEVLQILTQVNVVRRECEIKLEAAHFDEKKEINKRKQLILEG
  KDPDLEAKRKAELAKIKQKNRRFKEKVEETLKRQKAGRAGHKGRPPRTPSGSHSGPVPSQ
  GLV

• Sequence length: 483

Pathways

Reactome:

Major pathway of rRNA processing in the nucleolus and cytosol

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma of lung	Lung carcinoma	BEFREE	31749282		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37096455	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37096455	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31749282		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29618122		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37106339	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	36298642	Inhibit	★☆☆☆☆ Found in Text Mining only