Human Gene DDX1 (ENST00000233084.8_5) from GENCODE V47lift37
  Description: DEAD-box helicase 1 (from RefSeq NM_004939.3)
Gencode Transcript: ENST00000233084.8_5
Gencode Gene: ENSG00000079785.16_10
Transcript (Including UTRs)
   Position: hg19 chr2:15,731,992-15,771,225 Size: 39,234 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg19 chr2:15,732,058-15,771,030 Size: 38,973 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:15,731,992-15,771,225)mRNA (may differ from genome)Protein (740 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DDX1_HUMAN
DESCRIPTION: RecName: Full=ATP-dependent RNA helicase DDX1; EC=3.6.4.13; AltName: Full=DEAD box protein 1; AltName: Full=DEAD box protein retinoblastoma; Short=DBP-RB;
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 clearance at DNA double-strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 expression. Binds to the cyclin CCND2 promoter region. Associates with chromatin at the NF- kappa-B promoter region via association with RELA. Binds to poly(A) RNA. May be involved in 3'-end cleavage and polyadenylation of pre-mRNAs. Required for HIV-1 Rev function as well as for HIV-1 replication. Binds to the RRE sequence of HIV-1 mRNAs.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Interacts with PHF5A (via C-terminus) (By similarity). Interacts with MBNL1. Interacts with CSTF2. Interacts with HNRNPK. Interacts with ATM. Interacts with RELA (via C-terminus). Interacts (via C-terminus) with the replicase polyprotein 1ab Nsp14 of the avian infectious bronchitis virus (IBV). Interacts with Rev of HIV-1. Interacts with severe acute respiratory syndrome coronavirus (SARS-CoV) (via N-terminus). Component of the tRNA-splicing ligase complex.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasmic granule. Note=Localized with MBNL1, TIAL1 and YBX1 in stress granules upon stress. Localized with CSTF2 in cleavage bodies. Forms large aggregates called DDX1 bodies. Relocalized into multiple foci (IR- induced foci or IRIF) after IR treatment, a process that depends on the presence of chromosomal DNA and/or RNA-DNA duplexes. Relocalized at sites of DNA double-strand breaks (DSBs) in an ATM- dependent manner after IR treatment. Colocalized with RELA in the nucleus upon TNF-alpha induction. Relocalized to the cytoplasm with a perinuclear staining pattern in avian infectious bronchitis virus (IBV)-infected cells. Required for proper localization of HIV-1 Rev.
TISSUE SPECIFICITY: Highest levels of transcription in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin including the retina, brain, and spinal cord.
DOMAIN: The helicase domain is involved in the stimulation of RELA transcriptional activity.
PTM: Phosphorylated. Phosphorylated by ATM kinase; phosphorylation is increased in response to ionizing radiation (IR).
SIMILARITY: Belongs to the DEAD box helicase family. DDX1 subfamily.
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
CAUTION: According to some authors the unwinding activity is ADP- dependent and not ATP-dependent (PubMed:18710941).

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DDX1
Diseases sorted by gene-association score: retinoblastoma (19), hiv-1 (6), bronchitis (4), neuroblastoma (3), autonomic nervous system neoplasm (1), peripheral nervous system neoplasm (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.47 RPKM in Muscle - Skeletal
Total median expression: 1584.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.3066-0.292 Picture PostScript Text
3' UTR -30.90195-0.158 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001870 - B30.2/SPRY
IPR008985 - ConA-like_lec_gl_sf
IPR011545 - DNA/RNA_helicase_DEAD/DEAH_N
IPR014001 - Helicase_ATP-bd
IPR001650 - Helicase_C
IPR014014 - RNA_helicase_DEAD_Q_motif
IPR018355 - SPla/RYanodine_receptor_subgr
IPR003877 - SPRY_rcpt

Pfam Domains:
PF00270 - DEAD/DEAH box helicase
PF00271 - Helicase conserved C-terminal domain
PF00622 - SPRY domain

SCOP Domains:
49899 - Concanavalin A-like lectins/glucanases
51366 - Ribulose-phoshate binding barrel
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q92499
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003712 transcription cofactor activity
GO:0003723 RNA binding
GO:0003724 RNA helicase activity
GO:0003725 double-stranded RNA binding
GO:0004004 ATP-dependent RNA helicase activity
GO:0004386 helicase activity
GO:0004518 nuclease activity
GO:0004527 exonuclease activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008026 ATP-dependent helicase activity
GO:0008143 poly(A) binding
GO:0016787 hydrolase activity
GO:0033677 DNA/RNA helicase activity

Biological Process:
GO:0000245 spliceosomal complex assembly
GO:0006302 double-strand break repair
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation
GO:0006397 mRNA processing
GO:0006446 regulation of translational initiation
GO:0007275 multicellular organism development
GO:0008033 tRNA processing
GO:0009615 response to virus
GO:0010501 RNA secondary structure unwinding
GO:0032508 DNA duplex unwinding
GO:0043330 response to exogenous dsRNA
GO:0090305 nucleic acid phosphodiester bond hydrolysis
GO:1903608 protein localization to cytoplasmic stress granule

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0010494 cytoplasmic stress granule
GO:0016020 membrane
GO:0071920 cleavage body
GO:0072669 tRNA-splicing ligase complex
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  AB073360 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla10590, full insert sequence.
LP895388 - Sequence 252 from Patent EP3253886.
X70649 - Homo sapiens DDX1 gene, complete CDS.
AB593034 - Homo sapiens DDX1 mRNA for ATP-dependent RNA helicase DDX1, complete cds, clone: HP05190-RBb21D07.
AB593033 - Homo sapiens DDX1 mRNA for ATP-dependent RNA helicase DDX1, complete cds, clone: HP05190-RBb12D06.
AB593031 - Homo sapiens DDX1 mRNA for ATP-dependent RNA helicase DDX1, complete cds, clone: HP05190-RBb02F01.
AK297432 - Homo sapiens cDNA FLJ57326 complete cds, highly similar to ATP-dependent RNA helicase DDX1 (EC 3.6.1.-).
JD057288 - Sequence 38312 from Patent EP1572962.
AK298426 - Homo sapiens cDNA FLJ51031 complete cds, highly similar to ATP-dependent RNA helicase DDX1 (EC 3.6.1.-).
JD375319 - Sequence 356343 from Patent EP1572962.
JD080033 - Sequence 61057 from Patent EP1572962.
BC053673 - Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1, mRNA (cDNA clone MGC:61477 IMAGE:6174205), complete cds.
BC012132 - Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1, mRNA (cDNA clone MGC:20222 IMAGE:4549185), complete cds.
AK298212 - Homo sapiens cDNA FLJ51017 partial cds, highly similar to ATP-dependent RNA helicase DDX1 (EC 3.6.1.-).
AB593032 - Homo sapiens DDX1 mRNA for ATP-dependent RNA helicase DDX1, complete cds, clone: HP05190-RBb11B02.
BC012739 - Homo sapiens cDNA clone IMAGE:3835131, containing frame-shift errors.
AK313933 - Homo sapiens cDNA, FLJ94573, Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA.
EF418570 - Homo sapiens clone DDX1-A1 DEAD box polypeptide 1 (DDX1) mRNA, complete cds.
EF418571 - Homo sapiens clone DDX1-H1 DEAD box polypeptide 1 (DDX1) mRNA, complete cds.
KJ896697 - Synthetic construct Homo sapiens clone ccsbBroadEn_06091 DDX1 gene, encodes complete protein.
AB527788 - Synthetic construct DNA, clone: pF1KB5738, Homo sapiens DDX1 gene for DEAD (Asp-Glu-Ala-Asp) box polypeptide 1, without stop codon, in Flexi system.
JD024115 - Sequence 5139 from Patent EP1572962.
JD030983 - Sequence 12007 from Patent EP1572962.
KJ901378 - Synthetic construct Homo sapiens clone ccsbBroadEn_10772 DDX1 gene, encodes complete protein.
JD410503 - Sequence 391527 from Patent EP1572962.
JD428763 - Sequence 409787 from Patent EP1572962.
JD142782 - Sequence 123806 from Patent EP1572962.
JD491037 - Sequence 472061 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7803 - tRNA splicing II

Reactome (by CSHL, EBI, and GO)

Protein Q92499 (Reactome details) participates in the following event(s):

R-HSA-5696816 tRNA ligase complex ligates tRNA exons
R-HSA-6784531 tRNA processing in the nucleus
R-HSA-72306 tRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B4DME8, B4DPN6, DDX1_HUMAN, ENST00000233084.1, ENST00000233084.2, ENST00000233084.3, ENST00000233084.4, ENST00000233084.5, ENST00000233084.6, ENST00000233084.7, NM_004939, Q92499, uc317dwj.1, uc317dwj.2
UCSC ID: ENST00000233084.8_5
RefSeq Accession: NM_004939.3
Protein: Q92499 (aka DDX1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.