DDX1 (DEAD-box helicase 1) - Rat Genome Database

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Gene: DDX1 (DEAD-box helicase 1) Homo sapiens
Analyze
Symbol: DDX1
Name: DEAD-box helicase 1
RGD ID: 737232
HGNC Page HGNC
Description: Enables several functions, including helicase activity; poly(A) binding activity; and transcription coregulator activity. Involved in DNA duplex unwinding; nucleic acid metabolic process; and protein localization to cytoplasmic stress granule. Located in cleavage body; cytoplasmic stress granule; and cytosol. Part of ribonucleoprotein complex and tRNA-splicing ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATP-dependent RNA helicase DDX1; DBP-RB; DEAD (Asp-Glu-Ala-Asp) box helicase 1; DEAD (Asp-Glu-Ala-Asp) box polypeptide 1; DEAD box polypeptide 1; DEAD box protein 1; DEAD box protein retinoblastoma; DEAD box-1; DEAD-box RNA helicase DDX1; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1; DEAD/H-box helicase 1; UKVH5d
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl215,591,178 - 15,634,346 (+)EnsemblGRCh38hg38GRCh38
GRCh38215,591,868 - 15,631,101 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37215,731,992 - 15,771,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36215,649,221 - 15,688,676 (+)NCBINCBI36hg18NCBI36
Build 34215,682,367 - 15,721,823NCBI
Celera215,649,490 - 15,688,945 (+)NCBI
Cytogenetic Map2p24.3NCBI
HuRef215,583,004 - 15,622,496 (+)NCBIHuRef
CHM1_1215,661,598 - 15,701,093 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1552844   PMID:7689221   PMID:8135819   PMID:10319407   PMID:10834319   PMID:11598190   PMID:11790298   PMID:12183465   PMID:12477932   PMID:14744259   PMID:15161933   PMID:15489334  
PMID:15567440   PMID:15588285   PMID:15635413   PMID:15892970   PMID:16159877   PMID:16230076   PMID:16354571   PMID:17028906   PMID:17220478   PMID:17314511   PMID:17380053   PMID:17380054  
PMID:17611020   PMID:17620599   PMID:17661632   PMID:18029348   PMID:18320585   PMID:18335541   PMID:18508616   PMID:18710941   PMID:18809582   PMID:19058135   PMID:19135240   PMID:19149558  
PMID:19240061   PMID:19398953   PMID:19738201   PMID:19946888   PMID:20348541   PMID:20467437   PMID:20499159   PMID:20573827   PMID:20890123   PMID:21081503   PMID:21081666   PMID:21145461  
PMID:21280222   PMID:21311021   PMID:21319273   PMID:21358275   PMID:21697133   PMID:21763499   PMID:21832049   PMID:21873635   PMID:21907836   PMID:21946350   PMID:21988832   PMID:22051512  
PMID:22079093   PMID:22174317   PMID:22446626   PMID:22479191   PMID:22544364   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22751105   PMID:22863883   PMID:22939629   PMID:23125841  
PMID:23284291   PMID:23608157   PMID:23703321   PMID:23797032   PMID:23979707   PMID:24023901   PMID:24130170   PMID:24189637   PMID:24332808   PMID:24390425   PMID:24550385   PMID:24608264  
PMID:24654937   PMID:24657165   PMID:24711643   PMID:24870230   PMID:24965446   PMID:24981860   PMID:24993907   PMID:25147182   PMID:25192599   PMID:25324306   PMID:25437307   PMID:25496916  
PMID:25662211   PMID:25690890   PMID:25921289   PMID:25963833   PMID:26030138   PMID:26217791   PMID:26323305   PMID:26344197   PMID:26496610   PMID:26777405   PMID:26831064   PMID:27025967  
PMID:27105836   PMID:27173435   PMID:27248496   PMID:27550810   PMID:27565346   PMID:27609421   PMID:27684187   PMID:28040436   PMID:28302793   PMID:28379444   PMID:28431233   PMID:28514442  
PMID:28515276   PMID:28533407   PMID:28544931   PMID:28700943   PMID:28712289   PMID:28902428   PMID:28977666   PMID:29117863   PMID:29128334   PMID:29228324   PMID:29229926   PMID:29395067  
PMID:29467282   PMID:29507755   PMID:29511261   PMID:29511296   PMID:29593330   PMID:29679569   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29869821   PMID:29961565   PMID:29991511  
PMID:29992460   PMID:30021884   PMID:30196744   PMID:30209976   PMID:30295819   PMID:30442662   PMID:30463901   PMID:30575818   PMID:30629181   PMID:30737378   PMID:30833792   PMID:30890647  
PMID:30940648   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31073040   PMID:31076518   PMID:31091453   PMID:31152661   PMID:31353912   PMID:31359346   PMID:31462707   PMID:31527668  
PMID:31586073   PMID:31665637   PMID:31685992   PMID:31995728   PMID:32041737   PMID:32129710   PMID:32188489   PMID:32235678   PMID:32239614   PMID:32416067   PMID:32521226   PMID:32529326  
PMID:32552912   PMID:32755435   PMID:32780723   PMID:32786267   PMID:32807901   PMID:32905556   PMID:33024031   PMID:34248311  


Genomics

Comparative Map Data
DDX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl215,591,178 - 15,634,346 (+)EnsemblGRCh38hg38GRCh38
GRCh38215,591,868 - 15,631,101 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37215,731,992 - 15,771,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36215,649,221 - 15,688,676 (+)NCBINCBI36hg18NCBI36
Build 34215,682,367 - 15,721,823NCBI
Celera215,649,490 - 15,688,945 (+)NCBI
Cytogenetic Map2p24.3NCBI
HuRef215,583,004 - 15,622,496 (+)NCBIHuRef
CHM1_1215,661,598 - 15,701,093 (+)NCBICHM1_1
Ddx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391213,269,308 - 13,299,175 (-)NCBIGRCm39mm39
GRCm39 Ensembl1213,266,974 - 13,299,214 (-)Ensembl
GRCm381213,219,307 - 13,249,174 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1213,216,973 - 13,249,213 (-)EnsemblGRCm38mm10GRCm38
MGSCv371213,226,113 - 13,255,980 (-)NCBIGRCm37mm9NCBIm37
MGSCv361213,245,295 - 13,275,162 (-)NCBImm8
Celera1213,565,291 - 13,593,111 (-)NCBICelera
Cytogenetic Map12A1.1NCBI
Ddx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2635,996,469 - 36,027,340 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl635,996,469 - 36,027,365 (-)Ensembl
Rnor_6.0638,422,892 - 38,453,762 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl638,422,888 - 38,453,797 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0647,188,697 - 47,219,567 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4636,794,602 - 36,825,473 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1636,812,356 - 36,818,005 (-)NCBI
Celera635,359,044 - 35,389,916 (-)NCBICelera
Cytogenetic Map6q15NCBI
Ddx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554879,085,918 - 9,119,979 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554879,085,950 - 9,117,599 (+)NCBIChiLan1.0ChiLan1.0
DDX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A15,716,044 - 15,753,482 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A15,716,044 - 15,753,623 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A15,582,499 - 15,619,751 (+)NCBIMhudiblu_PPA_v0panPan3
DDX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11711,432,060 - 11,467,000 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1711,432,136 - 11,466,990 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1711,375,128 - 11,409,962 (+)NCBI
ROS_Cfam_1.01711,559,789 - 11,594,731 (+)NCBI
UMICH_Zoey_3.11711,419,496 - 11,454,379 (+)NCBI
UNSW_CanFamBas_1.01711,429,814 - 11,464,805 (+)NCBI
UU_Cfam_GSD_1.01711,454,120 - 11,488,966 (+)NCBI
Ddx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629255,920,933 - 55,954,651 (+)NCBI
SpeTri2.0NW_00493649314,884,532 - 14,918,621 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DDX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3121,818,406 - 121,853,958 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13121,818,400 - 121,856,667 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23130,448,196 - 130,480,756 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DDX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11492,007,446 - 92,045,414 (-)NCBI
ChlSab1.1 Ensembl1492,007,036 - 92,045,190 (-)Ensembl
Vero_WHO_p1.0NW_02366604520,189,540 - 20,227,199 (+)NCBI
Ddx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624865898,850 - 927,375 (-)NCBI

Position Markers
WI-7414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,771,088 - 15,771,216UniSTSGRCh37
Build 36215,688,539 - 15,688,667RGDNCBI36
Celera215,688,808 - 15,688,936RGD
Cytogenetic Map2p24UniSTS
HuRef215,622,349 - 15,622,477UniSTS
Whitehead-YAC Contig Map7 UniSTS
G20773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,771,055 - 15,771,180UniSTSGRCh37
Build 36215,688,506 - 15,688,631RGDNCBI36
Celera215,688,775 - 15,688,900RGD
Cytogenetic Map2p24UniSTS
HuRef215,622,316 - 15,622,441UniSTS
A006F40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,771,055 - 15,771,180UniSTSGRCh37
Build 36215,688,506 - 15,688,631RGDNCBI36
Celera215,688,775 - 15,688,900RGD
Cytogenetic Map2p24UniSTS
HuRef215,622,316 - 15,622,441UniSTS
GeneMap99-GB4 RH Map256.35UniSTS
NCBI RH Map267.6UniSTS
DDX1_8292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,770,902 - 15,771,425UniSTSGRCh37
Build 36215,688,353 - 15,688,876RGDNCBI36
Celera215,688,622 - 15,689,145RGD
HuRef215,622,163 - 15,622,686UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1260Ahsa-miR-1260aMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:683
Count of miRNA genes:499
Interacting mature miRNAs:558
Transcripts:ENST00000233084, ENST00000381341, ENST00000434671, ENST00000459706, ENST00000470674, ENST00000478695
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 8 1 6
Medium 2432 2397 1706 607 1423 449 4355 2131 3635 414 1447 1601 171 1203 2788 4
Low 1 587 17 15 525 15 62 70 4 1 1 1 1
Below cutoff 2 4 1 2 2 1 3 5 5 2 3 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB593031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC360930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF418570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF418571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X70649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000233084   ⟹   ENSP00000233084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,868 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000381341   ⟹   ENSP00000370745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,178 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000434671   ⟹   ENSP00000413767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,532 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000459706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,868 - 15,622,957 (+)Ensembl
RefSeq Acc Id: ENST00000470674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,869 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000478695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,733 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000617198   ⟹   ENSP00000482416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,852 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000621973   ⟹   ENSP00000484958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,888 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000676635   ⟹   ENSP00000504060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,869 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000676759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,733 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000676916   ⟹   ENSP00000503949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,846 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000676937   ⟹   ENSP00000503720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,846 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000677302   ⟹   ENSP00000504080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,532 - 15,634,346 (+)Ensembl
RefSeq Acc Id: ENST00000677355   ⟹   ENSP00000503705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,869 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000677437   ⟹   ENSP00000504817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,868 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000677552   ⟹   ENSP00000504225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,879 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000677649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,598,496 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000678137   ⟹   ENSP00000503001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,868 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000678391   ⟹   ENSP00000503358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,906 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000678536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,733 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000678594   ⟹   ENSP00000502982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,868 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000678755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,733 - 15,631,097 (+)Ensembl
RefSeq Acc Id: ENST00000678786   ⟹   ENSP00000502926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,733 - 15,631,101 (+)Ensembl
RefSeq Acc Id: ENST00000679227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,591,733 - 15,631,101 (+)Ensembl
RefSeq Acc Id: NM_004939   ⟹   NP_004930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,591,868 - 15,631,101 (+)NCBI
GRCh37215,731,745 - 15,771,235 (+)NCBI
Build 36215,649,221 - 15,688,676 (+)NCBI Archive
HuRef215,583,004 - 15,622,496 (+)NCBI
CHM1_1215,661,598 - 15,701,093 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004930   ⟸   NM_004939
- UniProtKB: Q92499 (UniProtKB/Swiss-Prot),   A3RJH1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000484958   ⟸   ENST00000621973
RefSeq Acc Id: ENSP00000233084   ⟸   ENST00000233084
RefSeq Acc Id: ENSP00000482416   ⟸   ENST00000617198
RefSeq Acc Id: ENSP00000413767   ⟸   ENST00000434671
RefSeq Acc Id: ENSP00000370745   ⟸   ENST00000381341
RefSeq Acc Id: ENSP00000503949   ⟸   ENST00000676916
RefSeq Acc Id: ENSP00000503720   ⟸   ENST00000676937
RefSeq Acc Id: ENSP00000504060   ⟸   ENST00000676635
RefSeq Acc Id: ENSP00000504225   ⟸   ENST00000677552
RefSeq Acc Id: ENSP00000504817   ⟸   ENST00000677437
RefSeq Acc Id: ENSP00000503705   ⟸   ENST00000677355
RefSeq Acc Id: ENSP00000504080   ⟸   ENST00000677302
RefSeq Acc Id: ENSP00000503358   ⟸   ENST00000678391
RefSeq Acc Id: ENSP00000503001   ⟸   ENST00000678137
RefSeq Acc Id: ENSP00000502926   ⟸   ENST00000678786
RefSeq Acc Id: ENSP00000502982   ⟸   ENST00000678594
Promoters
RGD ID:6859674
Promoter ID:EPDNEW_H3002
Type:initiation region
Name:DDX1_1
Description:DEAD-box helicase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,591,868 - 15,591,928EPDNEW
RGD ID:6797176
Promoter ID:HG_KWN:31590
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000381341,   NM_004939,   OTTHUMT00000323657
Position:
Human AssemblyChrPosition (strand)Source
Build 36215,649,161 - 15,649,661 (+)MPROMDB
RGD ID:6853396
Promoter ID:EP74523
Type:initiation region
Name:HS_DDX1
Description:DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36215,649,456 - 15,649,516EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 copy number loss See cases [RCV000053978] Chr2:6531172..16103799 [GRCh38]
Chr2:6671304..16243921 [GRCh37]
Chr2:6588755..16161372 [NCBI36]
Chr2:2p25.2-24.3
pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p24.3(chr2:14715345-16305738)x3 copy number gain See cases [RCV000134770] Chr2:14715345..16305738 [GRCh38]
Chr2:14855469..16487006 [GRCh37]
Chr2:14772920..16350487 [NCBI36]
Chr2:2p24.3
uncertain significance
GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1 copy number loss See cases [RCV000137049] Chr2:13664310..16228425 [GRCh38]
Chr2:13804435..16409693 [GRCh37]
Chr2:13721886..16273174 [NCBI36]
Chr2:2p24.3
pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1
pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1
pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
GRCh37/hg19 2p24.3(chr2:14617464-16467586)x1 copy number loss See cases [RCV000446084] Chr2:14617464..16467586 [GRCh37]
Chr2:2p24.3
pathogenic
NC_000002.11:g.(?_11326144)_(16240708_?)del deletion Schizophrenia [RCV000416804] Chr2:11326144..16240708 [GRCh37]
Chr2:11243595..16158159 [NCBI36]
Chr2:2p25.1-24.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1
pathogenic
GRCh37/hg19 2p24.3(chr2:15718236-16693828)x3 copy number gain not provided [RCV000682111] Chr2:15718236..16693828 [GRCh37]
Chr2:2p24.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NC_000002.12:g.(?_11177745)_(16113827_?)del deletion Schizophrenia [RCV000754225] Chr2:11177745..16113827 [GRCh38]
Chr2:2p25.1-24.3
likely pathogenic
Single allele duplication Primary amenorrhea [RCV000754403] Chr2:15091702..16172000 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_004939.3(DDX1):c.1947T>C (p.Cys649=) single nucleotide variant not provided [RCV000883633] Chr2:15629673 [GRCh38]
Chr2:15769797 [GRCh37]
Chr2:2p24.3
benign
NM_004939.3(DDX1):c.1341A>T (p.Pro447=) single nucleotide variant not provided [RCV000881179] Chr2:15620342 [GRCh38]
Chr2:15760466 [GRCh37]
Chr2:2p24.3
benign
GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1 copy number loss not provided [RCV000847885] Chr2:15631145..21729493 [GRCh37]
Chr2:2p24.3-24.1
pathogenic
GRCh37/hg19 2p24.3(chr2:15636487-15786810)x3 copy number gain not provided [RCV000849294] Chr2:15636487..15786810 [GRCh37]
Chr2:2p24.3
uncertain significance
NC_000002.11:g.15744252_17675820del deletion Optic atrophy [RCV001003856] Chr2:15744252..17675820 [GRCh37]
Chr2:2p24.3-24.2
likely pathogenic
GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3 copy number gain not provided [RCV000847286] Chr2:12269293..18259781 [GRCh37]
Chr2:2p24.3-24.2
pathogenic
GRCh37/hg19 2p24.3-24.2(chr2:15478363-17062394)x3 copy number gain not provided [RCV001005234] Chr2:15478363..17062394 [GRCh37]
Chr2:2p24.3-24.2
pathogenic
GRCh37/hg19 2p24.3(chr2:15621732-16226970)x3 copy number gain not provided [RCV001259157] Chr2:15621732..16226970 [GRCh37]
Chr2:2p24.3
pathogenic
GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1 copy number loss not provided [RCV001537913] Chr2:15640273..19609496 [GRCh37]
Chr2:2p24.3-24.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2734 AgrOrtholog
COSMIC DDX1 COSMIC
Ensembl Genes ENSG00000079785 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000233084 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370745 UniProtKB/Swiss-Prot
  ENSP00000413767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000482416 UniProtKB/TrEMBL
  ENSP00000484958 UniProtKB/TrEMBL
  ENSP00000502926 UniProtKB/TrEMBL
  ENSP00000502982 UniProtKB/TrEMBL
  ENSP00000503001 UniProtKB/TrEMBL
  ENSP00000503358 UniProtKB/TrEMBL
  ENSP00000503705 UniProtKB/TrEMBL
  ENSP00000503720 UniProtKB/TrEMBL
  ENSP00000503949 UniProtKB/TrEMBL
  ENSP00000504060 UniProtKB/TrEMBL
  ENSP00000504080 UniProtKB/Swiss-Prot
  ENSP00000504225 UniProtKB/TrEMBL
  ENSP00000504817 UniProtKB/TrEMBL
Ensembl Transcript ENST00000233084 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381341 UniProtKB/Swiss-Prot
  ENST00000434671 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000617198 UniProtKB/TrEMBL
  ENST00000621973 UniProtKB/TrEMBL
  ENST00000676635 UniProtKB/TrEMBL
  ENST00000676916 UniProtKB/TrEMBL
  ENST00000676937 UniProtKB/TrEMBL
  ENST00000677302 UniProtKB/Swiss-Prot
  ENST00000677355 UniProtKB/TrEMBL
  ENST00000677437 UniProtKB/TrEMBL
  ENST00000677552 UniProtKB/TrEMBL
  ENST00000678137 UniProtKB/TrEMBL
  ENST00000678391 UniProtKB/TrEMBL
  ENST00000678594 UniProtKB/TrEMBL
  ENST00000678786 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000079785 GTEx
HGNC ID HGNC:2734 ENTREZGENE
Human Proteome Map DDX1 Human Proteome Map
InterPro B30.2/SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B30.2/SPRY_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEAD/DEAH_box_helicase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_helicase_DEAD_Q_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1653 ENTREZGENE
OMIM 601257 OMIM
Pfam DEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27199 PharmGKB
PROSITE B302_SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Q_MOTIF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZ71_HUMAN UniProtKB/TrEMBL
  A0A087X2G1_HUMAN UniProtKB/TrEMBL
  A0A7I2V2M5_HUMAN UniProtKB/TrEMBL
  A0A7I2V421_HUMAN UniProtKB/TrEMBL
  A0A7I2V430_HUMAN UniProtKB/TrEMBL
  A0A7I2V4F0_HUMAN UniProtKB/TrEMBL
  A0A7I2V4J3_HUMAN UniProtKB/TrEMBL
  A0A7I2V4Q0_HUMAN UniProtKB/TrEMBL
  A0A7I2V5X8_HUMAN UniProtKB/TrEMBL
  A0A7I2YQ77_HUMAN UniProtKB/TrEMBL
  A0A7I2YQD0_HUMAN UniProtKB/TrEMBL
  A3RJH1 ENTREZGENE, UniProtKB/TrEMBL
  C9JLP0_HUMAN UniProtKB/TrEMBL
  DDX1_HUMAN UniProtKB/Swiss-Prot
  F1T0B3_HUMAN UniProtKB/TrEMBL
  Q92499 ENTREZGENE
UniProt Secondary B4DME8 UniProtKB/Swiss-Prot
  B4DPN6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-04 DDX1  DEAD-box helicase 1    DEAD/H-box helicase 1  Symbol and/or name change 5135510 APPROVED
2016-01-12 DDX1  DEAD/H-box helicase 1    DEAD (Asp-Glu-Ala-Asp) box helicase 1  Symbol and/or name change 5135510 APPROVED
2012-03-01 DDX1  DEAD (Asp-Glu-Ala-Asp) box helicase 1  DDX1  DEAD (Asp-Glu-Ala-Asp) box polypeptide 1  Symbol and/or name change 5135510 APPROVED
2011-08-17 DDX1  DEAD (Asp-Glu-Ala-Asp) box polypeptide 1  DDX1  DEAD (Asp-Glu-Ala-Asp) box polypeptide 1  Symbol and/or name change 5135510 APPROVED