DDX31 (DEAD-box helicase 31)

Gene

• Entrez ID: 64794
• Gene name: DEAD-box helicase 31
• Gene symbol: DDX31
• Synonyms (NCBI Gene): PPP1R25
• Chromosome: 9
• Chromosome location: 9q34.13
• Summary: 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 secondary structure such as translation initiation, nuclear and m

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031816	hsa-miR-16-5p	Proteomics	18668040
MIRT037156	hsa-miR-877-3p	CLASH	23622248
MIRT930374	hsa-miR-125a-3p	CLIP-seq
MIRT930375	hsa-miR-134	CLIP-seq
MIRT930376	hsa-miR-15a	CLIP-seq
MIRT930377	hsa-miR-15b	CLIP-seq
MIRT930378	hsa-miR-16	CLIP-seq
MIRT930379	hsa-miR-195	CLIP-seq
MIRT930380	hsa-miR-2355-5p	CLIP-seq
MIRT930381	hsa-miR-3118	CLIP-seq
MIRT930382	hsa-miR-3125	CLIP-seq
MIRT930383	hsa-miR-3148	CLIP-seq
MIRT930384	hsa-miR-3150b-3p	CLIP-seq
MIRT930385	hsa-miR-3153	CLIP-seq
MIRT930386	hsa-miR-3192	CLIP-seq
MIRT930387	hsa-miR-3916	CLIP-seq
MIRT930388	hsa-miR-424	CLIP-seq
MIRT930389	hsa-miR-4314	CLIP-seq
MIRT930390	hsa-miR-4459	CLIP-seq
MIRT930391	hsa-miR-4646-5p	CLIP-seq
MIRT930392	hsa-miR-4668-5p	CLIP-seq
MIRT930393	hsa-miR-4784	CLIP-seq
MIRT930394	hsa-miR-497	CLIP-seq
MIRT930395	hsa-miR-552	CLIP-seq
MIRT930396	hsa-miR-665	CLIP-seq
MIRT930397	hsa-miR-765	CLIP-seq
MIRT1975419	hsa-miR-1180	CLIP-seq
MIRT1975420	hsa-miR-3682-5p	CLIP-seq
MIRT1975421	hsa-miR-4664-3p	CLIP-seq
MIRT2210799	hsa-miR-1324	CLIP-seq
MIRT2210800	hsa-miR-3124-3p	CLIP-seq
MIRT2210801	hsa-miR-3653	CLIP-seq
MIRT2210802	hsa-miR-3658	CLIP-seq
MIRT2210803	hsa-miR-4511	CLIP-seq
MIRT2210804	hsa-miR-4786-5p	CLIP-seq
MIRT2210805	hsa-miR-548b-3p	CLIP-seq
MIRT2514761	hsa-miR-1202	CLIP-seq
MIRT2514762	hsa-miR-2116	CLIP-seq
MIRT930384	hsa-miR-3150b-3p	CLIP-seq
MIRT2514763	hsa-miR-3154	CLIP-seq
MIRT2514764	hsa-miR-3155	CLIP-seq
MIRT2514765	hsa-miR-3155b	CLIP-seq
MIRT2514766	hsa-miR-3194-5p	CLIP-seq
MIRT2514767	hsa-miR-342-5p	CLIP-seq
MIRT2514768	hsa-miR-3918	CLIP-seq
MIRT2514769	hsa-miR-3920	CLIP-seq
MIRT2514770	hsa-miR-3939	CLIP-seq
MIRT2514771	hsa-miR-3972	CLIP-seq
MIRT2514772	hsa-miR-4267	CLIP-seq
MIRT2514773	hsa-miR-4434	CLIP-seq
MIRT2514774	hsa-miR-4446-3p	CLIP-seq
MIRT2514775	hsa-miR-4512	CLIP-seq
MIRT2514776	hsa-miR-4516	CLIP-seq
MIRT2514777	hsa-miR-4532	CLIP-seq
MIRT2514778	hsa-miR-4664-5p	CLIP-seq
MIRT2514779	hsa-miR-4675	CLIP-seq
MIRT2514780	hsa-miR-4685-5p	CLIP-seq
MIRT2514781	hsa-miR-4707-5p	CLIP-seq
MIRT2514782	hsa-miR-4741	CLIP-seq
MIRT2514783	hsa-miR-4749-3p	CLIP-seq
MIRT930393	hsa-miR-4784	CLIP-seq
MIRT2514784	hsa-miR-4802-5p	CLIP-seq
MIRT2514785	hsa-miR-484	CLIP-seq
MIRT2514786	hsa-miR-499-3p	CLIP-seq
MIRT2514787	hsa-miR-499a-3p	CLIP-seq
MIRT2514788	hsa-miR-600	CLIP-seq
MIRT2514789	hsa-miR-663b	CLIP-seq
MIRT930397	hsa-miR-765	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, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	23019224, 30021884, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	23019224
GO:0005730	Component	Nucleolus	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0042254	Process	Ribosome biogenesis	IBA
GO:0042254	Process	Ribosome biogenesis	IMP	23019224

Other IDs

• MIM: 616533
• HGNC: 16715
• e!Ensembl: ENSG00000125485

Protein

• UniProt ID: Q9H8H2
• Protein name: ATP-dependent DNA helicase DDX31 (EC 5.6.2.-) (DEAD box protein 31) (Helicain) (Probable ATP-dependent RNA helicase DDX31) (EC 3.6.4.13)
• Protein function: May have DNA helicase activity and RNA helicase activity. Probably have ssDNA and RNA dependent ATPase activity (By similarity). Plays a role in ribosome biogenesis and TP53/p53 regulation through its interaction with NPM1 (PubMed:23019224). {EC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00270	DEAD	255 → 432	DEAD/DEAH box helicase	Domain
  PF00271	Helicase_C	493 → 623	Helicase conserved C-terminal domain	Family
  PF13959	DUF4217	693 → 754	Domain of unknown function (DUF4217)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Weakly or undetectably expressed in normal organs. Up-regulated in renal cell carcinoma. {ECO:0000269|PubMed:23019224}.
• Sequence:

  MAPDLASQRHSESFPSVNSRPNVILPGREGRREGLPPGGGTRGSLVPTRPVPPSPAPLGT
  SPYSWSRSGPGRGGGAGSSRVPRGVPGPAVCAPGSLLHHASPTQTMAAADGSLFDNPRTF
  SRRPPAQASRQAKATKRKYQASSEAPPAKRRNETSFLPAKKTSVKETQRTFKGNAQKMFS
  PKKHSVSTSDRNQEERQCIKTSSLFKNNPDIPELHRPVVKQVQEKVFTSAAFHELGLHPH
  LISTINTVLKMSSMTSVQKQSIPVLLEGRDALVRSQTGSGKTLAYCIPVVQSLQAMESKI
  QRSDGPYALVLVPTRELALQSFDTVQKLLKPFTWIVPGVLMGGEKRKSEKARLRKGINIL
  ISTPGRLVDHIKSTKNIHFSRLRWLVFDEADRILDLGFEKDITVILNAVNAECQKRQNVL
  LSATLTEGVTRLADISLHDPVSISVLDKSHDQLNPKDKAVQEVCPPPAGDKLDSFAIPES
  LKQHVTVVPSKLRLVCLAAFILQKCKFEEDQKMVVFFSSCELVEFHYSLFLQTLLSSSGA
  PASGQLPSASMRLKFLRLHGGMEQEERTAVFQEFSHSRRGVLLCTDVAARGLDLPQVTWI
  VQYNAPSSPAEYIHRIGRTARIGCHGSSLLILAPSEAEYVNSLASHKINVSEIKMEDILC
  VLTRDDCFKGKRWGAQKSHAVGPQEIRERATVLQTVFEDYVHSSERRVSWAKKALQSFIQ
  AYATYPRELKHIFHVRSLHLGHVAKSFGLRDAPRNLSALTRKKRKAHVKRPDLHKKTQSK
  HSLAEILRSEYSSGMEADIAKVKKQNAPGEPGGRPLQHSLQPTPCFGRGKTLKWRKTQKG
  VQRDSKTSQKV

• Sequence length: 851

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
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations