DUOXA1 - dual oxidase maturation factor 1 Gene
Also Known as NIP; mol; NUMBIP
Species: Homo sapiens
About DUOXA1
This gene has 16 transcripts (splice variants), 235 orthologues and 1 paralogue. Biased expression in esophagus (RPKM 22.8), skin (RPKM 19.6) and 7 other tissues.
Summary
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]
DUOXA1 Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001276264.2 | NP_001263193.1 | dual oxidase maturation factor 1 isoform 1 |
| NM_001276265.1 | NP_001263194.1 | dual oxidase maturation factor 1 isoform 2 |
| NM_001276266.2 | NP_001263195.1 | dual oxidase maturation factor 1 isoform 3 |
| NM_001276267.2 | NP_001263196.1 | dual oxidase maturation factor 1 isoform 4 |
| NM_001276268.2 | NP_001263197.1 | dual oxidase maturation factor 1 isoform 4 |
| NM_001384349.1 | NP_001371278.1 | dual oxidase maturation factor 1 isoform 4 |
| NM_144565.4 | NP_653166.2 | dual oxidase maturation factor 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
19339556 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
33420071 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of hydrogen peroxide biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
22814254 | GOA |
| involved in protein localization |
IGI
IGI: Inferred from genetic interaction
|
19339556 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell leading edge |
IGI
IGI: Inferred from genetic interaction
|
19339556 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
19339556 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
19339556 | GOA |
DUOXA1 Protein Structure
DuoxA: Dual oxidase maturation factor (9 - 289)
- 0
- 100
- 200
- 300
- 343 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dual oxidase maturation factor 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Congenital Hypothyroidism |
|
|
| Dyshormonogenic Goiter |
|
|
| Hypothyroidism |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | DUOXA1 | VGNC | VGNC:28243 |
| Rattus norvegicus | DUOXA1 | RGD | RGD:1306601 |
| Macaca mulatta | DUOXA1 | VGNC | VGNC:71909 |
| Felis catus | DUOXA1 | VGNC | VGNC:80983 |
| Canis familiaris | DUOXA1 | VGNC | VGNC:40122 |
| Mus musculus | DUOXA1 | MGD | MGI:2384861 |
| Others | DUOXA1 | NCBI |