Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	10212
Gene name	DExD-box helicase 39A
Gene symbol	DDX39A
Synonyms (NCBI Gene)	BAT1BAT1LDDX39DDXLURH49
Chromosome	19
Chromosome location	19p13.12
Summary	This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA sec

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205516	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016108	hsa-miR-421	Sequencing	20371350
MIRT019655	hsa-miR-378a-3p	Sequencing	20371350
MIRT049339	hsa-miR-92a-3p	CLASH	23622248
MIRT044183	hsa-miR-99b-5p	CLASH	23622248
MIRT039528	hsa-miR-652-3p	CLASH	23622248
MIRT016108	hsa-miR-421	CLASH	23622248
MIRT498432	hsa-miR-6768-3p	PAR-CLIP	22291592
MIRT498431	hsa-miR-4753-5p	PAR-CLIP	22291592
MIRT498430	hsa-miR-5681a	PAR-CLIP	22291592
MIRT498429	hsa-miR-6730-5p	PAR-CLIP	22291592
MIRT498428	hsa-miR-488-3p	PAR-CLIP	22291592
MIRT498432	hsa-miR-6768-3p	PAR-CLIP	22291592
MIRT498431	hsa-miR-4753-5p	PAR-CLIP	22291592
MIRT498430	hsa-miR-5681a	PAR-CLIP	22291592
MIRT498429	hsa-miR-6730-5p	PAR-CLIP	22291592
MIRT498428	hsa-miR-488-3p	PAR-CLIP	22291592
MIRT930398	hsa-miR-1251	CLIP-seq
MIRT930399	hsa-miR-1254	CLIP-seq
MIRT930400	hsa-miR-127-5p	CLIP-seq
MIRT930401	hsa-miR-216b	CLIP-seq
MIRT930402	hsa-miR-3116	CLIP-seq
MIRT930403	hsa-miR-3675-3p	CLIP-seq
MIRT930404	hsa-miR-3689d	CLIP-seq
MIRT930405	hsa-miR-3978	CLIP-seq
MIRT930406	hsa-miR-4666-3p	CLIP-seq
MIRT930407	hsa-miR-4709-5p	CLIP-seq
MIRT930408	hsa-miR-4767	CLIP-seq
MIRT930409	hsa-miR-485-3p	CLIP-seq
MIRT930410	hsa-miR-513c	CLIP-seq
MIRT930411	hsa-miR-514b-5p	CLIP-seq
MIRT930412	hsa-miR-541	CLIP-seq
MIRT930413	hsa-miR-566	CLIP-seq
MIRT930414	hsa-miR-654-5p	CLIP-seq
MIRT930415	hsa-miR-875-3p	CLIP-seq
MIRT930398	hsa-miR-1251	CLIP-seq
MIRT930399	hsa-miR-1254	CLIP-seq
MIRT930401	hsa-miR-216b	CLIP-seq
MIRT930402	hsa-miR-3116	CLIP-seq
MIRT930403	hsa-miR-3675-3p	CLIP-seq
MIRT930404	hsa-miR-3689d	CLIP-seq
MIRT930405	hsa-miR-3978	CLIP-seq
MIRT930406	hsa-miR-4666-3p	CLIP-seq
MIRT930407	hsa-miR-4709-5p	CLIP-seq
MIRT930409	hsa-miR-485-3p	CLIP-seq
MIRT930410	hsa-miR-513c	CLIP-seq
MIRT930411	hsa-miR-514b-5p	CLIP-seq
MIRT930413	hsa-miR-566	CLIP-seq
MIRT930415	hsa-miR-875-3p	CLIP-seq
MIRT930399	hsa-miR-1254	CLIP-seq
MIRT930402	hsa-miR-3116	CLIP-seq
MIRT930404	hsa-miR-3689d	CLIP-seq
MIRT930405	hsa-miR-3978	CLIP-seq
MIRT930407	hsa-miR-4709-5p	CLIP-seq
MIRT930413	hsa-miR-566	CLIP-seq
MIRT930415	hsa-miR-875-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IGI	15047853
GO:0002224	Process	Toll-like receptor signaling pathway	IDA	18222170
GO:0002753	Process	Cytoplasmic pattern recognition receptor signaling pathway	IDA	16125763, 20501938
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IDA	32393512
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:0005515	Function	Protein binding	IPI	14667819, 15047853, 16189514, 21044950, 21859714, 23652018, 25416956, 32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	32393512
GO:0005634	Component	Nucleus	IDA	21859714
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7601445
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	21859714
GO:0005737	Component	Cytoplasm	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006405	Process	RNA export from nucleus	TAS
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0006406	Process	MRNA export from nucleus	IEA
GO:0006406	Process	MRNA export from nucleus	IGI	15047853
GO:0008380	Process	RNA splicing	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	EXP	20844015
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0045824	Process	Negative regulation of innate immune response	IDA	32393512
GO:0046832	Process	Negative regulation of RNA export from nucleus	IDA	32393512

MIM	HGNC	e!Ensembl
619906	17821	ENSG00000123136

O00148

Protein name

ATP-dependent RNA helicase DDX39A (EC 3.6.4.13) (DEAD box protein 39) (Nuclear RNA helicase URH49)

Protein function

Helicase that plays an essential role in mRNA export and is involved in multiple steps in RNA metabolism including alternative splicing (PubMed:33941617, PubMed:38801080). Regulates nuclear mRNA export to the cytoplasm through association with E

PDB

8IJU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	68 → 237	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	272 → 381	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in testis, and at lower levels in brain, kidney, lung, thymus, spleen and salivary gland. {ECO:0000269|PubMed:15047853}.

Sequence

MAEQDVENDLLDYDEEEEPQAPQESTPAPPKKDIKGSYVSIHSSGFRDFLLKPELLRAIV
DCGFEHPSEVQHECIPQAILGMDVLCQAKSGMGKTAVFVLATLQQIEPVNGQVTVLVMCH
TRELAFQISKEYERFSKYMPSVKVSVFFGGLSIKKDEEVLKKNCPHVVVGTPGRILALVR
NRSFSLKNVKHFVLDECDKMLEQLDMRRDVQEIFRLTPHEKQCMMFSATLSKDIRPVCRK
FMQDPMEVFVDDETKLTLHGLQQYYVKLKDSEKNRKLFDLLDVLEFNQVIIFVKSVQRCM
ALAQLLVEQNFPAIAIHRGMAQEERLSRYQQFKDFQRRILVATNLFGRGMDIERVNIVFN
YDMPEDSDTYLHRVARAGRFGTKGLAITFVSDENDAKILNDVQDRFEVNVAELPEEIDIS
TYIEQSR

Sequence length

427

Interactions

View interactions

Reactome Pathway
Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA 3'-end processing
RNA Polymerase II Transcription Termination

DDX39A (DExD-box helicase 39A)

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