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  2. DUOXA1 - dual oxidase maturation factor 1 Gene

DUOXA1 - dual oxidase maturation factor 1 Gene

Homo sapiens

Also known as NIP; mol; NUMBIP

Gene ID: 90527 | Gene type: protein coding

About DUOXA1

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,117,366-45,129,879 (from NCBI)

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

DUOXA1 Protein Structure

DuoxA

DuoxA: Dual oxidase maturation factor (9 - 289)

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  • 300
  • 343 a.a.
Protein Preferred Names Protein Names

dual oxidase maturation factor 1

dual oxidase activator 1

Related Diseases

Diseases Alias
Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Dyshormonogenic Goiter

Dyshormonogenic Goitre

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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