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Aliases for DDX43 Gene

Aliases for DDX43 Gene

  • DEAD-Box Helicase 43 2 3 5
  • Cancer/Testis Antigen 13 2 3 4
  • DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 43 2 3
  • DEAD Box Protein HAGE 3 4
  • Helical Antigen 3 4
  • CT13 3 4
  • HAGE 3 4
  • Probable ATP-Dependent RNA Helicase DDX43 3
  • DEAD-Box Protein 43 3
  • DEAD Box Protein 43 4
  • EC 3.6.4.13 4
  • EC 3.6.1 56

External Ids for DDX43 Gene

Previous GeneCards Identifiers for DDX43 Gene

  • GC06P074054
  • GC06P074100
  • GC06P074161
  • GC06P071302
  • GC06P074104

Summaries for DDX43 Gene

Entrez Gene Summary for DDX43 Gene

  • The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]

CIViC summary for DDX43 Gene

GeneCards Summary for DDX43 Gene

DDX43 (DEAD-Box Helicase 43) is a Protein Coding gene. Diseases associated with DDX43 include Rheumatoid Lung Disease. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent RNA helicase activity. An important paralog of this gene is DDX53.

Gene Wiki entry for DDX43 Gene

Additional gene information for DDX43 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDX43 Gene

Genomics for DDX43 Gene

GeneHancer (GH) Regulatory Elements for DDX43 Gene

Promoters and enhancers for DDX43 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I073394 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 560.4 +0.2 243 1.3 PKNOX1 ZNF687 CLOCK DDX20 CHD1 MAX SIN3A MNT ZBTB7B ZNF217 OOEP DDX43 MTO1
GH06I073421 Enhancer 1 Ensembl ENCODE 11.8 +27.9 27875 2 HDAC1 PKNOX1 ATF1 NFRKB TCF12 ZNF766 ATF7 RUNX3 CREM ZBTB11 DDX43 OOEP RPS6P8 RPL39P3 OOEP-AS1 CGAS
GH06I073348 Enhancer 0.5 ENCODE 10.3 -45.2 -45224 2.2 SP1 POU5F1 ETS1 EZH2 OOEP-AS1 RPL39P3 OOEP KHDC1 RPS6P8 DDX43 MTO1 SLC17A5 DPPA5 PAICSP3
GH06I072552 Enhancer 1 Ensembl ENCODE 4.7 -840.3 -840345 3.5 HDAC1 HDGF PKNOX1 NFRKB FOS SMARCA5 CEBPB ZEB2 ATF4 ZNF184 DDX43 GC06P072583 LOC100422453
GH06I073247 Promoter 0.5 EPDnew 9.1 -147.1 -147070 0.1 KHDC1 OOEP DDX43 RPS6P8 GC06P073237 ENSG00000243501
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DDX43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DDX43 gene promoter:

Genomic Locations for DDX43 Gene

Genomic Locations for DDX43 Gene
chr6:73,394,562-73,417,569
(GRCh38/hg38)
Size:
23,008 bases
Orientation:
Plus strand
chr6:74,104,285-74,127,292
(GRCh37/hg19)

Genomic View for DDX43 Gene

Genes around DDX43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDX43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDX43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDX43 Gene

Proteins for DDX43 Gene

  • Protein details for DDX43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXZ2-DDX43_HUMAN
    Recommended name:
    Probable ATP-dependent RNA helicase DDX43
    Protein Accession:
    Q9NXZ2
    Secondary Accessions:
    • B4E0C8
    • Q6NXR1

    Protein attributes for DDX43 Gene

    Size:
    648 amino acids
    Molecular mass:
    72844 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DDX43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDX43 Gene

Selected DME Specific Peptides for DDX43 Gene

Q9NXZ2:
  • DMGFEPQ
  • VLTPTREL
  • TPTRELA
  • IIATPGR
  • HRIGRTGR
  • GRTGRAG
  • TDLASRG
  • AQTGTGKT
  • DEADKML
  • IATPGRL
  • PTRELALQ

Post-translational modifications for DDX43 Gene

No Post-translational modifications

Other Protein References for DDX43 Gene

Domains & Families for DDX43 Gene

Gene Families for DDX43 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DDX43 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NXZ2

UniProtKB/Swiss-Prot:

DDX43_HUMAN :
  • Belongs to the DEAD box helicase family.
Family:
  • Belongs to the DEAD box helicase family.
genes like me logo Genes that share domains with DDX43: view

Function for DDX43 Gene

Molecular function for DDX43 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.

Enzyme Numbers (IUBMB) for DDX43 Gene

Gene Ontology (GO) - Molecular Function for DDX43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,TAS --
GO:0004004 ATP-dependent RNA helicase activity TAS 10919659
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DDX43: view
genes like me logo Genes that share phenotypes with DDX43: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DDX43 Gene

Localization for DDX43 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDX43 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DDX43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005730 nucleolus IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with DDX43: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for DDX43 Gene

Pathways & Interactions for DDX43 Gene

SuperPathways for DDX43 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDX43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010501 RNA secondary structure unwinding IBA --
genes like me logo Genes that share ontologies with DDX43: view

No data available for Pathways by source and SIGNOR curated interactions for DDX43 Gene

Drugs & Compounds for DDX43 Gene

(3) Drugs for DDX43 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for DDX43 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with DDX43: view

Transcripts for DDX43 Gene

Unigene Clusters for DDX43 Gene

DEAD (Asp-Glu-Ala-Asp) box polypeptide 43:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DDX43 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: -
SP2: - -
SP3:

Relevant External Links for DDX43 Gene

GeneLoc Exon Structure for
DDX43
ECgene alternative splicing isoforms for
DDX43

Expression for DDX43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DDX43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DDX43 Gene

This gene is overexpressed in Testis (x14.8).

Protein differential expression in normal tissues from HIPED for DDX43 Gene

This gene is overexpressed in Testis (39.7), Ovary (18.4), and Lung (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DDX43 Gene



Protein tissue co-expression partners for DDX43 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DDX43 Gene:

DDX43

SOURCE GeneReport for Unigene cluster for DDX43 Gene:

Hs.125507

mRNA Expression by UniProt/SwissProt for DDX43 Gene:

Q9NXZ2-DDX43_HUMAN
Tissue specificity: Expressed in testis. Expressed in many tumors of various histological types at a level that is 100-fold higher than the level observed in normal tissues except testis.
genes like me logo Genes that share expression patterns with DDX43: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DDX43 Gene

Orthologs for DDX43 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DDX43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDX43 33 34
  • 99.54 (n)
mouse
(Mus musculus)
Mammalia Ddx43 33 16 34
  • 79.66 (n)
rat
(Rattus norvegicus)
Mammalia Ddx43 33
  • 79.28 (n)
dog
(Canis familiaris)
Mammalia LOC102151353 33
  • 77.96 (n)
cow
(Bos Taurus)
Mammalia DDX43 33 34
  • 76.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 68 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 60 (a)
ManyToMany
-- 34
  • 58 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DDX43 33
  • 63.33 (n)
-- 34
  • 58 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 58 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ddx43 33
  • 63.13 (n)
zebrafish
(Danio rerio)
Actinopterygii ddx43 34
  • 48 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6611 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004351 33
  • 54.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7878 33 34
  • 52.82 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54G11A.3 33
  • 48.88 (n)
Y54G11A.3 34
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DBP2 34
  • 37 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14598 33
Species where no ortholog for DDX43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDX43 Gene

ENSEMBL:
Gene Tree for DDX43 (if available)
TreeFam:
Gene Tree for DDX43 (if available)

Paralogs for DDX43 Gene

Paralogs for DDX43 Gene

(11) SIMAP similar genes for DDX43 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for DDX43 Gene

genes like me logo Genes that share paralogs with DDX43: view

Variants for DDX43 Gene

Sequence variations from dbSNP and Humsavar for DDX43 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000156678 -- 73,394,213(+) A/G upstream_transcript_variant
rs1000161828 -- 73,406,260(+) G/T intron_variant
rs1000193229 -- 73,403,441(+) G/A intron_variant
rs1000245719 -- 73,403,115(+) A/G intron_variant
rs1000530045 -- 73,394,958(+) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for DDX43 Gene

Variant ID Type Subtype PubMed ID
esv3609509 CNV loss 21293372
nsv518515 CNV loss 19592680
nsv830693 CNV loss 17160897

Variation tolerance for DDX43 Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.46; 91.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDX43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDX43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDX43 Gene

Disorders for DDX43 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DDX43 Gene - From: DISEASES

Disorder Aliases PubMed IDs
rheumatoid lung disease
  • rheumatoid lung
- elite association - COSMIC cancer census association via MalaCards
Search DDX43 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DDX43

genes like me logo Genes that share disorders with DDX43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DDX43 Gene

Publications for DDX43 Gene

  1. Identification on a human sarcoma of two new genes with tumor-specific expression. (PMID: 10919659) Martelange V … Boon T (Cancer research 2000) 2 3 4 22 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58
  4. The DEAD-box protein DDX43 (HAGE) is a dual RNA-DNA helicase and has a K-homology domain required for full nucleic acid unwinding activity. (PMID: 28468824) Talwar T … Wu Y (The Journal of biological chemistry 2017) 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for DDX43 Gene

Sources for DDX43 Gene

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