DUOXA1
Dual oxidase maturation factor 1
Also known as: DOXA1_HUMAN, FLJ32334, mol, NIP, NUMBIP
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q1HG43
- Gene
- DUOXA1
- Ensembl
- ENSG00000140254
- Chromosome
- 15
- Canonical length
- 343 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
343 residues, UniProt reviewed canonical sequence.
>Q1HG43|DUOXA1
1 MATLGHTFPF YAGPKPTFPM DTTLASIIMI FLTALATFIV ILPGIRGKTR LFWLLRVVTS
61 LFIGAAILAV NFSSEWSVGQ VSTNTSYKAF SSEWISADIG LQVGLGGVNI TLTGTPVQQL
121 NETINYNEEF TWRLGENYAE EYAKALEKGL PDPVLYLAEK FTPRSPCGLY RQYRLAGHYT
181 SAMLWVAFLC WLLANVMLSM PVLVYGGYML LATGIFQLLA LLFFSMATSL TSPCPLHLGA
241 SVLHTHHGPA FWITLTTGLL CVLLGLAMAV AHRMQPHRLK AFFNQSVDED PMLEWSPEEG
301 GLLSPRYRSM ADSPKSQDIP LSEASSTKAY CKEAHPKDPD CALLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DUOXA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 5
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 137 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 137 nTPM
- thyroid gland: 79 nTPM
- skin: 65 nTPM
- vagina: 53 nTPM
- lung: 47 nTPM
- cervix: 43 nTPM
Single-cell type
- esophageal apical cells: 388 nCPM
- alveolar cells type 1: 219 nCPM
- alveolar cells type 2: 216 nCPM
- esophageal suprabasal cells: 180 nCPM
- transitional alveolar cells: 155 nCPM
- suprabasal keratinocytes: 100 nCPM
Immune cell
- MAIT T-cell: 0.3 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- white matter: 6.6 nTPM
- cerebral cortex: 3.2 nTPM
- medulla oblongata: 2.5 nTPM
- thalamus: 2.5 nTPM
- cerebellum: 2.3 nTPM
- pons: 2.3 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.98
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.72
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- hydrogen peroxide metabolic process
- intracellular protein localization
- positive regulation of hydrogen peroxide biosynthetic process
- positive regulation of neuron differentiation
- protein transport
- regulation of inflammatory response
- regulation of thyroid hormone generation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DUOXA1 as an antibody target. Whether an autoantibody or antibody against DUOXA1 could matter depends on whether native DUOXA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DUOXA1 is annotated at the cell surface, where native DUOXA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DUOXA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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