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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
    mouse all
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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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    NEW Try the new Transcript table

    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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