DDX59 (DEAD-box helicase 59)

Gene

• Entrez ID: 83479
• Gene name: DEAD-box helicase 59
• Gene symbol: DDX59
• Synonyms (NCBI Gene): OFD5, ZNHIT5
• Chromosome: 1
• Chromosome location: 1q32.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777067	A>C,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs773114666	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs886037652	C>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1571603072	ATT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2211140	hsa-miR-4729	CLIP-seq
MIRT2211141	hsa-miR-587	CLIP-seq
MIRT2448138	hsa-miR-1297	CLIP-seq
MIRT2448139	hsa-miR-26a	CLIP-seq
MIRT2448140	hsa-miR-26b	CLIP-seq
MIRT2448141	hsa-miR-4272	CLIP-seq
MIRT2448142	hsa-miR-4465	CLIP-seq
MIRT2448138	hsa-miR-1297	CLIP-seq
MIRT2448139	hsa-miR-26a	CLIP-seq
MIRT2448140	hsa-miR-26b	CLIP-seq
MIRT2448141	hsa-miR-4272	CLIP-seq
MIRT2448142	hsa-miR-4465	CLIP-seq
MIRT2448138	hsa-miR-1297	CLIP-seq
MIRT2448139	hsa-miR-26a	CLIP-seq
MIRT2448140	hsa-miR-26b	CLIP-seq
MIRT2448141	hsa-miR-4272	CLIP-seq
MIRT2448142	hsa-miR-4465	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	IEA
GO:0003724	Function	RNA helicase activity	IBA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 615464
• HGNC: 25360
• e!Ensembl: ENSG00000118197

Protein

• UniProt ID: Q5T1V6
• Protein name: Probable ATP-dependent RNA helicase DDX59 (EC 3.6.4.13) (DEAD box protein 59) (Zinc finger HIT domain-containing protein 5)
• PDB: 2YQP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04438	zf-HIT	104 → 133	HIT zinc finger	Domain
  PF00270	DEAD	227 → 394	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	428 → 540	Helicase conserved C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fibroblasts (at protein level). {ECO:0000269|PubMed:23972372}.
• Sequence:

  MFVPRSLKIKRNANDDGKSCVAKIIKPDPEDLQLDKSRDVPVDAVATEAATIDRHISESC
  PFPSPGGQLAEVHSVSPEQGAKDSHPSEEPVKSFSKTQRWAEPGEPICVVCGRYGEYICD
  KTDEDVCSLECKAKHLLQVKEKEEKSKLSNPQKADSEPESPLNASYVYKEHPFILNLQED
  QIENLKQQLGILVQGQEVTRPIIDFEHCSLPEVLNHNLKKSGYEVPTPIQMQMIPVGLLG
  RDILASADTGSGKTAAFLLPVIMRALFESKTPSALILTPTRELAIQIERQAKELMSGLPR
  MKTVLLVGGLPLPPQLYRLQQHVKVIIATPGRLLDIIKQSSVELCGVKIVVVDEADTMLK
  MGFQQQVLDILENIPNDCQTILVSATIPTSIEQLASQLLHNPVRIITGEKNLPCANVRQI
  ILWVEDPAKKKKLFEILNDKKLFKPPVLVFVDCKLGADLLSEAVQKITGLKSISIHSEKS
  QIERKNILKGLLEGDYEVVVSTGVLGRGLDLISVRLVVNFDMPSSMDEYVHQIGRVGRLG
  QNGTAITFINNNSKRLFWDIAKRVKPTGSILPPQLLNSPYLHDQKRKEQQKDKQTQNDLV
  TGANLMDIIRKHDKSNSQK

• Sequence length: 619

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Orofaciodigital syndrome	Orofaciodigital syndrome V	rs587777067, rs1571603072, rs773114666	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Glioma	Associate	35113786
Leukemia Large Granular Lymphocytic	Associate	35015834