Human Gene DUOXA1 (ENST00000559014.5) from GENCODE V44
Description: Homo sapiens dual oxidase maturation factor 1 (DUOXA1), transcript variant 2, mRNA. (from RefSeq NM_001276264) RefSeq Summary (NM_001276264): 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]. Gencode Transcript: ENST00000559014.5 Gencode Gene: ENSG00000140254.13 Transcript (Including UTRs) Position: hg38 chr15:45,117,374-45,129,861 Size: 12,488 Total Exon Count: 11 Strand: - Coding Region Position: hg38 chr15:45,117,515-45,123,014 Size: 5,500 Coding Exon Count: 8
ID:DOXA1_HUMAN DESCRIPTION: RecName: Full=Dual oxidase maturation factor 1; AltName: Full=Dual oxidase activator 1; AltName: Full=Numb-interacting protein; FUNCTION: May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1 (Probable). SUBUNIT: May interact with NUMB. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). TISSUE SPECIFICITY: Specifically expressed in thyroid gland. Also detected in esophagus. SIMILARITY: Belongs to the DUOXA family.
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.
ModBase Predicted Comparative 3D Structure on Q1HG43
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0015031 protein transport GO:0042743 hydrogen peroxide metabolic process GO:0045666 positive regulation of neuron differentiation GO:0050727 regulation of inflammatory response GO:2000379 positive regulation of reactive oxygen species metabolic process GO:2000609 regulation of thyroid hormone generation
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