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DUOXA1 dual oxidase maturation factor 1 [ Homo sapiens (human) ]

Gene ID: 90527, updated on 3-Apr-2024

Summary

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Official Symbol
DUOXA1provided by HGNC
Official Full Name
dual oxidase maturation factor 1provided by HGNC
Primary source
HGNC:HGNC:26507
See related
Ensembl:ENSG00000140254 MIM:612771; AllianceGenome:HGNC:26507
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NIP; mol; NUMBIP
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]
Expression
Biased expression in esophagus (RPKM 22.8), skin (RPKM 19.6) and 7 other tissues See more
Orthologs
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Genomic context

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See DUOXA1 in Genome Data Viewer
Location:
15q21.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45117366..45129879, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (42925387..42937902, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45409564..45422077, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene sorbitol dehydrogenase Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45394173-45394673 Neighboring gene dual oxidase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:45402938-45403764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45404607-45405142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9349 Neighboring gene dual oxidase maturation factor 2 Neighboring gene uncharacterized LOC124903480 Neighboring gene dual oxidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45459911-45460412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45461170-45461772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45461773-45462375 Neighboring gene uncharacterized LOC124903481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45471346-45471852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:45475299-45475847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:45478592-45479144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6401 Neighboring gene Src homology 2 domain containing F

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. DUOXA1-mediated ROS production promotes cisplatin resistance by activating ATR-Chk1 pathway in ovarian cancer. Meng Y, et al. Cancer Lett, 2018 Aug 1. PMID 29704517, Free PMC Article
  2. Regulation of dual oxidase expression and H2O2 production by thyroglobulin. Yoshihara A, et al. Thyroid, 2012 Oct. PMID 22874065, Free PMC Article
  3. A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. Hulur I, et al. J Clin Endocrinol Metab, 2011 May. PMID 21367925, Free PMC Article
  4. Dual oxidase, hydrogen peroxide and thyroid diseases. Ohye H, et al. Exp Biol Med (Maywood), 2010 Apr. PMID 20407074
  5. Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. Grasberger H. Mol Cell Endocrinol, 2010 Jun 30. PMID 20122987

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structures of human dual oxidase 1 complex in low-calcium and high-calcium states.
    Title: Structures of human dual oxidase 1 complex in low-calcium and high-calcium states.
  2. Study shows that DUOXA1 is overexpressed in platinum-resistant ovarian cancer (OC) cells, resulting in over production of reactive oxygen species (ROS). Elevated ROS level sustains the activation of ATR-Chk1 pathway, leading to resistance to cisplatin in OC cells. Clinical studies also confirm the activation of ATR and DOUXA1 in OC patients, and elevated DOUXA1 or ATR-Chk1 pathway correlates with poor prognosis.
    Title: DUOXA1-mediated ROS production promotes cisplatin resistance by activating ATR-Chk1 pathway in ovarian cancer.
  3. We analyzed the expression of NADPH oxidase isoforms and found both A431 and HaCaT cells to express the calcium-sensitive NADPH oxidase, Dual oxidase 1 (Duox1) and its protein partner Duox activator 1 (DuoxA1).Our observations provide evidence for a new signaling paradigm in which changes of intracellular calcium concentration are transformed into redox signals through the calcium-dependent activation of Duox1.
    Title: Epidermal growth factor-induced hydrogen peroxide production is mediated by dual oxidase 1.
  4. DUOXA1 transient overexpression affected the cell-cell adhesion by modulating the actin cytoskeleton
    Title: NIP1/DUOXA1 expression in epithelial breast cancer cells: regulation of cell adhesion and actin dynamics.
  5. Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells.
    Title: Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ32334

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in hydrogen peroxide metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of hydrogen peroxide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of thyroid hormone generation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
dual oxidase maturation factor 1
Names
dual oxidase activator 1
dual oxidase maturation factor 1 alpha
dual oxidase maturation factor 1 beta
dual oxidase maturation factor 1 delta
dual oxidase maturation factor 1 gamma
homolog of Drosophila Numb-interacting protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033105.2 RefSeqGene

    Range
    4999..17512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276264.2 → NP_001263193.1  dual oxidase maturation factor 1 isoform 1

    See identical proteins and their annotated locations for NP_001263193.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform 1.
    Source sequence(s)
    AC091117, AK292771, BC020841, CB850544
    Consensus CDS
    CCDS10119.1
    UniProtKB/TrEMBL
    A8K9Q6
    Related
    ENSP00000453569.1, ENST00000559014.5
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

  2. NM_001276265.1 → NP_001263194.1  dual oxidase maturation factor 1 isoform 2

    See identical proteins and their annotated locations for NP_001263194.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. The resulting isoform (2, also known as delta) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    BC029819, CB850544, EU927397
    Consensus CDS
    CCDS61620.1
    UniProtKB/TrEMBL
    B5M0C0
    Related
    ENSP00000415512.2, ENST00000430224.6
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 238
    DuoxA; Dual oxidase maturation factor

  3. NM_001276266.2 → NP_001263195.1  dual oxidase maturation factor 1 isoform 3

    See identical proteins and their annotated locations for NP_001263195.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The resulting isoform (3, also known as alpha) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC091117
    Consensus CDS
    CCDS61621.1
    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7
    Related
    ENSP00000454084.1, ENST00000560572.6
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

  4. NM_001276267.2 → NP_001263196.1  dual oxidase maturation factor 1 isoform 4

    See identical proteins and their annotated locations for NP_001263196.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and 3' coding region compared to variant 1. The resulting isoform (4, also known as beta) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 5 and 6 encode the same isoform 4.
    Source sequence(s)
    AC091117, AK056896, AK292771, BC020841, CB850544
    Consensus CDS
    CCDS61619.1
    UniProtKB/TrEMBL
    B5M0B8
    Related
    ENSP00000453836.1, ENST00000558422.5
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 238
    DuoxA; Dual oxidase maturation factor

  5. NM_001276268.2 → NP_001263197.1  dual oxidase maturation factor 1 isoform 4

    See identical proteins and their annotated locations for NP_001263197.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' and 3' UTRs and 3' coding region compared to variant 1. The resulting isoform (4, also known as beta) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 5 and 6 encode the same isoform 4.
    Source sequence(s)
    AC091117, AK056896, CB850544
    Consensus CDS
    CCDS61619.1
    UniProtKB/TrEMBL
    B5M0B8
    Related
    ENSP00000454019.1, ENST00000558996.5
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 238
    DuoxA; Dual oxidase maturation factor

  6. NM_001384349.1 → NP_001371278.1  dual oxidase maturation factor 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC091117
    Consensus CDS
    CCDS61619.1
    UniProtKB/TrEMBL
    B5M0B8
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 238
    DuoxA; Dual oxidase maturation factor

  7. NM_144565.4 → NP_653166.2  dual oxidase maturation factor 1 isoform 1

    See identical proteins and their annotated locations for NP_653166.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as gamma). Variants 1 and 2 encode the same isoform 1.
    Source sequence(s)
    AC091117, AK292771, BC029819, CB850544
    Consensus CDS
    CCDS10119.1
    UniProtKB/TrEMBL
    A8K9Q6
    Related
    ENSP00000267803.4, ENST00000267803.8
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    45117366..45129879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720752.4 → XP_006720815.3  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  2. XM_047433289.1 → XP_047289245.1  dual oxidase maturation factor 1 isoform X2

    UniProtKB/TrEMBL
    B5M0B8

  3. XM_047433288.1 → XP_047289244.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  4. XM_006720746.2 → XP_006720809.1  dual oxidase maturation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_006720809.1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

  5. XM_006720751.4 → XP_006720814.1  dual oxidase maturation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_006720814.1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

  6. XM_006720745.2 → XP_006720808.1  dual oxidase maturation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_006720808.1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

  7. XM_047433293.1 → XP_047289249.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  8. XM_006720743.4 → XP_006720806.1  dual oxidase maturation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_006720806.1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

  9. XM_006720747.4 → XP_006720810.1  dual oxidase maturation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_006720810.1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

  10. XM_011522181.3 → XP_011520483.1  dual oxidase maturation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_011520483.1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

  11. XM_047433290.1 → XP_047289246.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  12. XM_011522183.3 → XP_011520485.1  dual oxidase maturation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_011520485.1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 283
    DuoxA; Dual oxidase maturation factor

  13. XM_047433292.1 → XP_047289248.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  14. XM_011522186.3 → XP_011520488.1  dual oxidase maturation factor 1 isoform X3

    UniProtKB/TrEMBL
    H0YMH9
    Related
    ENSP00000453614.1, ENST00000559013.5
    Conserved Domains (1) summary
    pfam10204
    Location:11 → 184
    DuoxA; Dual oxidase maturation factor

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    42925387..42937902 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379133.1 → XP_054235108.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  2. XM_054379129.1 → XP_054235104.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  3. XM_054379130.1 → XP_054235105.1  dual oxidase maturation factor 1 isoform X2

    UniProtKB/TrEMBL
    B5M0B8

  4. XM_054379128.1 → XP_054235103.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  5. XM_054379134.1 → XP_054235109.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  6. XM_054379138.1 → XP_054235113.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  7. XM_054379137.1 → XP_054235112.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  8. XM_054379136.1 → XP_054235111.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  9. XM_054379131.1 → XP_054235106.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  10. XM_054379135.1 → XP_054235110.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  11. XM_054379139.1 → XP_054235114.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  12. XM_054379132.1 → XP_054235107.1  dual oxidase maturation factor 1 isoform X1

    UniProtKB/Swiss-Prot
    Q1HG43, Q8N6K9, Q96MI4
    UniProtKB/TrEMBL
    B5M0B7

  13. XM_054379140.1 → XP_054235115.1  dual oxidase maturation factor 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q1HG43.1 GenPept UniProtKB/Swiss-Prot:Q1HG43

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