Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1653
Gene name Gene Name - the full gene name approved by the HGNC.	DEAD-box helicase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DDX1
Synonyms (NCBI Gene) Gene synonyms aliases	DBP-RB, UKVH5d
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p24.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(60)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038224	hsa-miR-342-5p	CLASH	23622248
MIRT035849	hsa-miR-1260a	CLASH	23622248
MIRT929677	hsa-miR-129-5p	CLIP-seq
MIRT929678	hsa-miR-3185	CLIP-seq
MIRT929679	hsa-miR-409-3p	CLIP-seq
MIRT929680	hsa-miR-4432	CLIP-seq
MIRT929681	hsa-miR-450b-3p	CLIP-seq
MIRT929682	hsa-miR-4709-3p	CLIP-seq
MIRT929683	hsa-miR-489	CLIP-seq
MIRT929684	hsa-miR-499-5p	CLIP-seq
MIRT929685	hsa-miR-526b	CLIP-seq
MIRT929686	hsa-miR-578	CLIP-seq
MIRT929687	hsa-miR-769-3p	CLIP-seq
MIRT929677	hsa-miR-129-5p	CLIP-seq
MIRT929678	hsa-miR-3185	CLIP-seq
MIRT929681	hsa-miR-450b-3p	CLIP-seq
MIRT929682	hsa-miR-4709-3p	CLIP-seq
MIRT1975262	hsa-miR-671-5p	CLIP-seq
MIRT929687	hsa-miR-769-3p	CLIP-seq
MIRT929684	hsa-miR-499-5p	CLIP-seq
MIRT2514591	hsa-miR-1179	CLIP-seq
MIRT2514592	hsa-miR-1303	CLIP-seq
MIRT2514593	hsa-miR-200b	CLIP-seq
MIRT2514594	hsa-miR-200c	CLIP-seq
MIRT2514595	hsa-miR-208a	CLIP-seq
MIRT2514596	hsa-miR-208b	CLIP-seq
MIRT2514597	hsa-miR-21	CLIP-seq
MIRT2514598	hsa-miR-3658	CLIP-seq
MIRT2514599	hsa-miR-429	CLIP-seq
MIRT929680	hsa-miR-4432	CLIP-seq
MIRT2514600	hsa-miR-452	CLIP-seq
MIRT2514601	hsa-miR-4676-3p	CLIP-seq
MIRT2514602	hsa-miR-4696	CLIP-seq
MIRT2514603	hsa-miR-4762-5p	CLIP-seq
MIRT929684	hsa-miR-499-5p	CLIP-seq
MIRT2514604	hsa-miR-499a-5p	CLIP-seq
MIRT2514605	hsa-miR-590-5p	CLIP-seq
MIRT2514606	hsa-miR-633	CLIP-seq
MIRT1975262	hsa-miR-671-5p	CLIP-seq
MIRT2514607	hsa-miR-888	CLIP-seq
MIRT2514591	hsa-miR-1179	CLIP-seq
MIRT2514592	hsa-miR-1303	CLIP-seq
MIRT2514593	hsa-miR-200b	CLIP-seq
MIRT2514594	hsa-miR-200c	CLIP-seq
MIRT2514595	hsa-miR-208a	CLIP-seq
MIRT2514596	hsa-miR-208b	CLIP-seq
MIRT2514597	hsa-miR-21	CLIP-seq
MIRT2514598	hsa-miR-3658	CLIP-seq
MIRT2514599	hsa-miR-429	CLIP-seq
MIRT929680	hsa-miR-4432	CLIP-seq
MIRT2514600	hsa-miR-452	CLIP-seq
MIRT2514601	hsa-miR-4676-3p	CLIP-seq
MIRT2514602	hsa-miR-4696	CLIP-seq
MIRT2514603	hsa-miR-4762-5p	CLIP-seq
MIRT929684	hsa-miR-499-5p	CLIP-seq
MIRT2514604	hsa-miR-499a-5p	CLIP-seq
MIRT2514605	hsa-miR-590-5p	CLIP-seq
MIRT2514606	hsa-miR-633	CLIP-seq
MIRT1975262	hsa-miR-671-5p	CLIP-seq
MIRT2514607	hsa-miR-888	CLIP-seq

Show/Hide all(55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000245	Process	Spliceosomal complex assembly	NAS	7689221
GO:0002376	Process	Immune system process	IEA
GO:0002735	Process	Positive regulation of myeloid dendritic cell cytokine production	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	19058135
GO:0003712	Function	Transcription coregulator activity	IDA	19058135
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IDA	12183465, 18710941
GO:0003724	Function	RNA helicase activity	IEA
GO:0003725	Function	Double-stranded RNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004518	Function	Nuclease activity	IDA	18710941
GO:0004518	Function	Nuclease activity	IEA
GO:0004527	Function	Exonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	11598190, 12183465, 15567440, 18335541, 18710941, 19058135, 20573827, 24608264, 26030138, 28040436, 29992460, 30021884, 33961781, 34232536, 35107372
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	19058135, 24608264
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	21311021
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	24608264, 24965446
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	21311021
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006302	Process	Double-strand break repair	IDA	18710941
GO:0006388	Process	TRNA splicing, via endonucleolytic cleavage and ligation	IMP	24870230
GO:0006388	Process	TRNA splicing, via endonucleolytic cleavage and ligation	NAS	24870230
GO:0006397	Process	MRNA processing	IEA
GO:0006446	Process	Regulation of translational initiation	NAS	7689221
GO:0008033	Process	TRNA processing	IEA
GO:0008143	Function	Poly(A) binding	IDA	12183465
GO:0009615	Process	Response to virus	IEA
GO:0010494	Component	Cytoplasmic stress granule	IDA	18335541
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0033677	Function	DNA/RNA helicase activity	IDA	18710941
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	ISS
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0071920	Component	Cleavage body	IDA	11598190
GO:0072669	Component	TRNA-splicing ligase complex	IDA	21311021, 24870230
GO:0072669	Component	TRNA-splicing ligase complex	NAS	24870230
GO:1903608	Process	Protein localization to cytoplasmic stress granule	IMP	24965446
GO:1990904	Component	Ribonucleoprotein complex	IDA	18809582

MIM	HGNC	e!Ensembl
601257	2734	ENSG00000079785

Protein

UniProt ID

Q92499

Protein name

ATP-dependent RNA helicase DDX1 (EC 3.6.4.13) (DEAD box protein 1) (DEAD box protein retinoblastoma) (DBP-RB)

Protein function

Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA c

PDB

4XW3 , 8TBX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00270	DEAD	26 → 418	DEAD/DEAH box helicase	Domain
PF00622	SPRY	132 → 245	SPRY domain	Family
PF00271	Helicase_C	488 → 610	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highest levels of transcription in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin including the retina, brain, and spinal cord. {ECO:0000269|PubMed:7689221}.

Sequence

MAAFSEMGVMPEIAQAVEEMDWLLPTDIQAESIPLILGGGDVLMAAETGSGKTGAFSIPV
IQIVYETLKDQQEGKKGKTTIKTGASVLNKWQMNPYDRGSAFAIGSDGLCCQSREVKEWH
GCRATKGLMKGKHYYEVSCHDQGLCRVGWSTMQASLDLGTDKFGFGFGGTGKKSHNKQFD
NYGEEFTMHDTIGCYLDIDKGHVKFSKNGKDLGLAFEIPPHMKNQALFPACVLKNAELKF
NFGEEEFKFPPKDGFVALSKAPDGYIVKSQHSGNAQVTQTKFLPNAPKALIVEPSRELAE
QTLNNIKQFKKYIDNPKLRELLIIGGVAARDQLSVLENGVDIVVGTPGRLDDLVSTGKLN
LSQVRFLVLDEADGLLSQGYSDFINRMHNQIPQVTSDGKRLQVIVCSATLHSFDVKKLSE
KIMHFPTWVDLKGEDSVPDTVHHVVVPVNPKTDRLWERLGKSHIRTDDVHAKDNTRPGAN
SPEMWSEAIKILKGEYAVRAIKEHKMDQAIIFCRTKIDCDNLEQYFIQQGGGPDKKGHQF
SCVCLHGDRKPHERKQNLERFKKGDVRFLICTDVAARGIDIHGVPYVINVTLPDEKQNYV
HRIGRVGRAERMGLAISLVATEKEKVWYHVCSSRGKGCYNTRLKEDGGCTIWYNEMQLLS
EIEEHLNCTISQVEPDIKVPVDEFDGKVTYGQKRAAGGGSYKGHVDILAPTVQELAALEK
EAQTSFLHLGYLPNQLFRTF

Sequence length

740

Interactions

View interactions

	Reactome
			tRNA processing in the nucleus

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Gout	Gout	N/A	N/A	GWAS

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	40194700
Asthma	Associate	24993907
Breast Neoplasms	Associate	21761397
Carcinogenesis	Associate	36054300
Carcinoma Hepatocellular	Associate	36451087
Carcinoma Renal Cell	Associate	36478716
Immune System Diseases	Associate	36250618
Inflammation	Associate	24993907
Influenza Human	Associate	37556111
Melanoma	Associate	31573152
Microcephaly	Associate	30842647
Neoplasms	Associate	18710941, 21761397, 25690890
Neoplasms	Inhibit	32626994
Neoplasms Radiation Induced	Associate	18710941
Neuroblastoma	Associate	11464910, 18710941, 21761397, 9694872
Neurologic Manifestations	Associate	38096740
Ovarian Neoplasms	Inhibit	32626994
Pulmonary Disease Chronic Obstructive	Associate	24993907
Retinoblastoma	Associate	18710941, 21761397, 9694872
Rhabdomyosarcoma	Associate	10935481
Testicular Neoplasms	Associate	21761397
Triple Negative Breast Neoplasms	Associate	21761397
Urinary Bladder Neoplasms	Associate	36054300
Virus Diseases	Associate	37556111
Wilms Tumor	Associate	21761397, 22544364

DDX1 (DEAD-box helicase 1)