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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1653
Gene name	DEAD-box helicase 1
Gene symbol	DDX1
Synonyms (NCBI Gene)	DBP-RBUKVH5d
Chromosome	2
Chromosome location	2p24.3
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

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

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

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATYPICAL ENDOMETRIAL HYPERPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX ENDOMETRIAL HYPERPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL HYPERPLASIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	40194700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24993907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24993907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22248470		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bloom Syndrome	Bloom Syndrome	BEFREE	28544931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20499159, 21761397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21761397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36054300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36451087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36478716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma testes	Testicular carcinoma	BEFREE	21761397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	24993907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29869821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22248470		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22248470		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroenteritis	Gastroenteritis	BEFREE	28848548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	36250618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29538313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20499159, 21761397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29869821, 8622876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31573152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	30842647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17028906, 17927523, 22085494, 26713367, 8622876, 8834177, 9516849, 9694872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	24161495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11464910, 18710941, 21761397, 9694872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15226335, 17028906, 17611020, 17927523, 21154590, 21761397, 22085494, 7731693, 8622876, 8834177, 8834178, 9694872		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25176654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32626994	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24993907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17927523, 7731693, 8125309, 8834177, 8834178, 9694872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	18710941, 21761397, 9694872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	10935481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	19398953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22248470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	21761397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	29869821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21761397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36054300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	21761397, 22544364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DDX1 (DEAD-box helicase 1)