Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DUOXA1 Gene

Aliases for DUOXA1 Gene

  • Dual Oxidase Maturation Factor 1 2 3 5
  • Dual Oxidase Activator 1 3 4
  • NUMBIP 3 4
  • NIP 3 4
  • Homolog Of Drosophila Numb-Interacting Protein 3
  • Dual Oxidase Maturation Factor 1 Alpha 3
  • Dual Oxidase Maturation Factor 1 Delta 3
  • Dual Oxidase Maturation Factor 1 Gamma 3
  • Dual Oxidase Maturation Factor 1 Beta 3
  • Numb-Interacting Protein 4
  • Mol 3

External Ids for DUOXA1 Gene

Previous GeneCards Identifiers for DUOXA1 Gene

  • GC15M043198
  • GC15M045409
  • GC15M022233

Summaries for DUOXA1 Gene

Entrez Gene Summary for DUOXA1 Gene

  • Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for DUOXA1 Gene

DUOXA1 (Dual Oxidase Maturation Factor 1) is a Protein Coding gene. Diseases associated with DUOXA1 include dyshormonogenic goiter. An important paralog of this gene is DUOXA2.

UniProtKB/Swiss-Prot for DUOXA1 Gene

  • May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUOXA1 Gene

Genomics for DUOXA1 Gene

Regulatory Elements for DUOXA1 Gene

Promoters for DUOXA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DUOXA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DUOXA1 Gene

Chromosome:
15
Start:
45,117,366 bp from pter
End:
45,129,938 bp from pter
Size:
12,573 bases
Orientation:
Minus strand

Genomic View for DUOXA1 Gene

Genes around DUOXA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DUOXA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DUOXA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUOXA1 Gene

Proteins for DUOXA1 Gene

  • Protein details for DUOXA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q1HG43-DOXA1_HUMAN
    Recommended name:
    Dual oxidase maturation factor 1
    Protein Accession:
    Q1HG43
    Secondary Accessions:
    • Q8N6K9
    • Q96MI4

    Protein attributes for DUOXA1 Gene

    Size:
    343 amino acids
    Molecular mass:
    37815 Da
    Quaternary structure:
    • May interact with NUMB.

    Alternative splice isoforms for DUOXA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DUOXA1 Gene

Proteomics data for DUOXA1 Gene at MOPED

Post-translational modifications for DUOXA1 Gene

  • Glycosylation at Asn 84, Asn 109, and Asn 121
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DUOXA1 Gene

Domains & Families for DUOXA1 Gene

Protein Domains for DUOXA1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q1HG43

UniProtKB/Swiss-Prot:

DOXA1_HUMAN :
  • Belongs to the DUOXA family.
Family:
  • Belongs to the DUOXA family.
genes like me logo Genes that share domains with DUOXA1: view

No data available for Gene Families for DUOXA1 Gene

Function for DUOXA1 Gene

Molecular function for DUOXA1 Gene

UniProtKB/Swiss-Prot Function:
May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1.

Phenotypes for DUOXA1 Gene

genes like me logo Genes that share phenotypes with DUOXA1: view

Animal Model Products

miRNA for DUOXA1 Gene

miRTarBase miRNAs that target DUOXA1

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DUOXA1 Gene

Localization for DUOXA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUOXA1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DUOXA1 Gene COMPARTMENTS Subcellular localization image for DUOXA1 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DUOXA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA --
genes like me logo Genes that share ontologies with DUOXA1: view

Pathways & Interactions for DUOXA1 Gene

SuperPathways for DUOXA1 Gene

No Data Available

Interacting Proteins for DUOXA1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000267803%0d%0a9606.ENSP00000428924%0d%0a
Selected Interacting proteins: ENSP00000267803 for DUOXA1 Gene via STRING

Symbol External ID(s) Details
LYN

Gene Ontology (GO) - Biological Process for DUOXA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0045666 positive regulation of neuron differentiation IEA --
GO:0050727 regulation of inflammatory response IEA --
genes like me logo Genes that share ontologies with DUOXA1: view

No data available for Pathways by source and SIGNOR curated interactions for DUOXA1 Gene

Drugs & Compounds for DUOXA1 Gene

No Compound Related Data Available

Transcripts for DUOXA1 Gene

Unigene Clusters for DUOXA1 Gene

Dual oxidase maturation factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DUOXA1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: - - - - - -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: -
SP7: - - -
SP8:
SP9: - -

Relevant External Links for DUOXA1 Gene

GeneLoc Exon Structure for
DUOXA1
ECgene alternative splicing isoforms for
DUOXA1

Expression for DUOXA1 Gene

mRNA expression in normal human tissues for DUOXA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DUOXA1 Gene

This gene is overexpressed in Esophagus - Mucosa (x12.4), Thyroid (x7.6), Lung (x5.4), Vagina (x4.6), Skin - Not Sun Exposed (Suprapubic) (x4.4), and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for DUOXA1 Gene

This gene is overexpressed in Cervix (30.6), Liver, secretome (25.7), and Islet of Langerhans (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DUOXA1 Gene



SOURCE GeneReport for Unigene cluster for DUOXA1 Gene Hs.356664

mRNA Expression by UniProt/SwissProt for DUOXA1 Gene

Q1HG43-DOXA1_HUMAN
Tissue specificity: Specifically expressed in thyroid gland. Also detected in esophagus.
genes like me logo Genes that share expression patterns with DUOXA1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for DUOXA1 Gene

Orthologs for DUOXA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DUOXA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DUOXA1 36
  • 98 (a)
OneToOne
DUOXA1 35
  • 99.61 (n)
  • 99.42 (a)
cow
(Bos Taurus)
Mammalia DUOXA1 36
  • 73 (a)
OneToOne
DUOXA1 35
  • 86.45 (n)
  • 86.65 (a)
dog
(Canis familiaris)
Mammalia DUOXA1 35
  • 88.01 (n)
  • 87.72 (a)
DUOXA1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Duoxa1 16
Duoxa1 35
  • 84.46 (n)
  • 83.87 (a)
Duoxa1 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DUOXA1 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Duoxa1 35
  • 83.92 (n)
  • 82.65 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 48 (a)
ManyToMany
-- 36
  • 43 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia duoxa1 35
  • 58.1 (n)
  • 49.65 (a)
zebrafish
(Danio rerio)
Actinopterygii DUOXA1 36
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009976 35
fruit fly
(Drosophila melanogaster)
Insecta mol 35
  • 45.36 (n)
  • 35.05 (a)
mol 36
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea doxa-1 36
  • 26 (a)
OneToMany
C06E1.3 35
  • 46.25 (n)
  • 36.53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
CSA.1230 36
  • 22 (a)
ManyToMany
Species with no ortholog for DUOXA1:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DUOXA1 Gene

ENSEMBL:
Gene Tree for DUOXA1 (if available)
TreeFam:
Gene Tree for DUOXA1 (if available)

Paralogs for DUOXA1 Gene

Paralogs for DUOXA1 Gene

genes like me logo Genes that share paralogs with DUOXA1: view

Variants for DUOXA1 Gene

Sequence variations from dbSNP and Humsavar for DUOXA1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs16977686 - 45,119,201(+) GGGAC(C/T)GTCAG nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
rs34734975 - 45,122,959(+) CCATC(A/G)GGAAG nc-transcript-variant, reference, missense
rs269858 -- 45,122,528(+) AGCTG(C/G)AACTA intron-variant
rs1426243 -- 45,124,305(+) tctat(A/C)ttgta intron-variant, upstream-variant-2KB
rs1898298 -- 45,122,049(+) GAGAA(A/G)CATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DUOXA1 Gene

Variant ID Type Subtype PubMed ID
dgv744e1 CNV Complex 17122850
nsv7264 OTHER Inversion 18451855
dgv2378n71 CNV Loss 21882294
esv1002924 CNV Deletion 20482838
nsv457125 CNV Loss 19166990
nsv518213 CNV Gain 19592680

Variation tolerance for DUOXA1 Gene

Residual Variation Intolerance Score: 59.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DUOXA1 Gene

HapMap Linkage Disequilibrium report
DUOXA1
Human Gene Mutation Database (HGMD)
DUOXA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DUOXA1 Gene

Disorders for DUOXA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DUOXA1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dyshormonogenic goiter
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DUOXA1

Genetic Association Database (GAD)
DUOXA1
Human Genome Epidemiology (HuGE) Navigator
DUOXA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DUOXA1
genes like me logo Genes that share disorders with DUOXA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DUOXA1 Gene

Publications for DUOXA1 Gene

  1. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. (PMID: 16651268) Grasberger H. … Refetoff S. (J. Biol. Chem. 2006) 2 3 4 67
  2. A novel transmembrane protein recruits numb to the plasma membrane during asymmetric cell division. (PMID: 14670962) Qin H. … Li S.S.-C. (J. Biol. Chem. 2004) 3 23
  3. Thyroid hydrogen peroxide production is enhanced by the Th2 cytokines, IL-4 and IL-13, through increased expression of the dual oxidase 2 and its maturation factor DUOXA2. (PMID: 23010498) Raad H. … De Deken X. (Free Radic. Biol. Med. 2013) 3
  4. Sexual dimorphism of thyroid reactive oxygen species production due to higher NADPH oxidase 4 expression in female thyroid glands. (PMID: 23033809) Fortunato R.S. … Carvalho D.P. (Thyroid 2013) 3
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J. … Elledge S.J. (Nat. Biotechnol. 2013) 3

Products for DUOXA1 Gene

Sources for DUOXA1 Gene

Back to Top

Content