U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

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

    Gene ID: 90527, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DUOXA1 in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45117366..45129879, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (42925387..42937902, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ32334

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 cell leading edge IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    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_001276264.2NP_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:11283
      DuoxA; Dual oxidase maturation factor
    2. NM_001276265.1NP_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:11238
      DuoxA; Dual oxidase maturation factor
    3. NM_001276266.2NP_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:11283
      DuoxA; Dual oxidase maturation factor
    4. NM_001276267.2NP_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:11238
      DuoxA; Dual oxidase maturation factor
    5. NM_001276268.2NP_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:11238
      DuoxA; Dual oxidase maturation factor
    6. NM_001384349.1NP_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:11238
      DuoxA; Dual oxidase maturation factor
    7. NM_144565.4NP_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:11283
      DuoxA; Dual oxidase maturation factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_006720752.4XP_006720815.3  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    2. XM_047433289.1XP_047289245.1  dual oxidase maturation factor 1 isoform X2

      UniProtKB/TrEMBL
      B5M0B8
    3. XM_047433288.1XP_047289244.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    4. XM_006720746.2XP_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:11283
      DuoxA; Dual oxidase maturation factor
    5. XM_006720751.4XP_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:11283
      DuoxA; Dual oxidase maturation factor
    6. XM_006720745.2XP_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:11283
      DuoxA; Dual oxidase maturation factor
    7. XM_047433293.1XP_047289249.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    8. XM_006720743.4XP_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:11283
      DuoxA; Dual oxidase maturation factor
    9. XM_006720747.4XP_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:11283
      DuoxA; Dual oxidase maturation factor
    10. XM_011522181.3XP_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:11283
      DuoxA; Dual oxidase maturation factor
    11. XM_047433290.1XP_047289246.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    12. XM_011522183.3XP_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:11283
      DuoxA; Dual oxidase maturation factor
    13. XM_047433292.1XP_047289248.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    14. XM_011522186.3XP_011520488.1  dual oxidase maturation factor 1 isoform X3

      UniProtKB/TrEMBL
      H0YMH9
      Related
      ENSP00000453614.1, ENST00000559013.5
      Conserved Domains (1) summary
      pfam10204
      Location:11184
      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_054379133.1XP_054235108.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    2. XM_054379129.1XP_054235104.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    3. XM_054379130.1XP_054235105.1  dual oxidase maturation factor 1 isoform X2

      UniProtKB/TrEMBL
      B5M0B8
    4. XM_054379128.1XP_054235103.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    5. XM_054379134.1XP_054235109.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    6. XM_054379138.1XP_054235113.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    7. XM_054379137.1XP_054235112.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    8. XM_054379136.1XP_054235111.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    9. XM_054379131.1XP_054235106.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    10. XM_054379135.1XP_054235110.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    11. XM_054379139.1XP_054235114.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    12. XM_054379132.1XP_054235107.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q1HG43, Q8N6K9, Q96MI4
      UniProtKB/TrEMBL
      B5M0B7
    13. XM_054379140.1XP_054235115.1  dual oxidase maturation factor 1 isoform X3

      UniProtKB/TrEMBL
      H0YMH9