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

Gene ID: 90527, updated on 18-Nov-2018

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; Vega:OTTHUMG00000131352
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

Genomic context

See DUOXA1 in Genome Data Viewer
Location:
15q21.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (45117366..45129938, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45409564..45422075, 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 dual oxidase 2 Neighboring gene dual oxidase maturation factor 2 Neighboring gene dual oxidase 1 Neighboring gene Src homology 2 domain containing F Neighboring gene transfer RNA-His (GTG) 1-7

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 Jun 15 11:32:44 2016

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ32334

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular protein localization IGI
Inferred from Genetic Interaction
more info
PubMed 
hydrogen peroxide metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of hydrogen peroxide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
protein localization IGI
Inferred from Genetic Interaction
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of thyroid hormone generation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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_033105.1 RefSeqGene

    Range
    5002..17512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276264.1NP_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)
    AK292771, BC020841, CB850544
    Consensus CDS
    CCDS10119.1
    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    A8K9Q6
    Related
    ENSP00000453569.1, OTTHUMP00000247349, ENST00000559014.5, OTTHUMT00000416237
    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/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0C0
    Related
    ENSP00000415512.2, OTTHUMP00000247351, ENST00000430224.6, OTTHUMT00000416239
    Conserved Domains (1) summary
    pfam10204
    Location:11238
    DuoxA; Dual oxidase maturation factor
  3. NM_001276266.1NP_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)
    BC029819, BM977797, EU927394
    Consensus CDS
    CCDS61621.1
    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B7
    Related
    ENSP00000454084.1, OTTHUMP00000247354, ENST00000560572.5, OTTHUMT00000416242
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor
  4. NM_001276267.1NP_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)
    AK056896, AK292771, BC020841, CB850544
    Consensus CDS
    CCDS61619.1
    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    A8K9Q6, B5M0B8
    Related
    ENSP00000453836.1, OTTHUMP00000247353, ENST00000558422.5, OTTHUMT00000416241
    Conserved Domains (1) summary
    pfam10204
    Location:11238
    DuoxA; Dual oxidase maturation factor
  5. NM_001276268.1NP_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)
    AK056896, CB850544
    Consensus CDS
    CCDS61619.1
    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B8
    Related
    ENSP00000454019.1, OTTHUMP00000247350, ENST00000558996.5, OTTHUMT00000416238
    Conserved Domains (1) summary
    pfam10204
    Location:11238
    DuoxA; Dual oxidase maturation factor
  6. NM_144565.3NP_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)
    AK292771, BC029819, CB850544
    Consensus CDS
    CCDS10119.1
    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    A8K9Q6
    Related
    ENSP00000267803.4, OTTHUMP00000162041, ENST00000267803.8, OTTHUMT00000254140
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    45117366..45129938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720746.1XP_006720809.1  dual oxidase maturation factor 1 isoform X2

    See identical proteins and their annotated locations for XP_006720809.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor
  2. XM_006720752.3XP_006720815.2  dual oxidase maturation factor 1 isoform X1

    Conserved Domains (1) summary
    pfam10204
    Location:40312
    DuoxA; Dual oxidase maturation factor
  3. XM_006720749.1XP_006720812.1  dual oxidase maturation factor 1 isoform X2

    See identical proteins and their annotated locations for XP_006720812.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor
  4. XM_006720755.1XP_006720818.1  dual oxidase maturation factor 1 isoform X3

    See identical proteins and their annotated locations for XP_006720818.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B8
    Conserved Domains (1) summary
    pfam10204
    Location:11238
    DuoxA; Dual oxidase maturation factor
  5. XM_006720754.1XP_006720817.1  dual oxidase maturation factor 1 isoform X3

    See identical proteins and their annotated locations for XP_006720817.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B8
    Conserved Domains (1) summary
    pfam10204
    Location:11238
    DuoxA; Dual oxidase maturation factor
  6. XM_006720745.1XP_006720808.1  dual oxidase maturation factor 1 isoform X2

    See identical proteins and their annotated locations for XP_006720808.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor
  7. XM_006720751.3XP_006720814.1  dual oxidase maturation factor 1 isoform X2

    See identical proteins and their annotated locations for XP_006720814.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor
  8. XM_006720747.3XP_006720810.1  dual oxidase maturation factor 1 isoform X2

    See identical proteins and their annotated locations for XP_006720810.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor
  9. XM_006720743.3XP_006720806.1  dual oxidase maturation factor 1 isoform X2

    See identical proteins and their annotated locations for XP_006720806.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor
  10. XM_011522181.2XP_011520483.1  dual oxidase maturation factor 1 isoform X2

    See identical proteins and their annotated locations for XP_011520483.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor
  11. XM_011522183.2XP_011520485.1  dual oxidase maturation factor 1 isoform X2

    See identical proteins and their annotated locations for XP_011520485.1

    UniProtKB/Swiss-Prot
    Q1HG43
    UniProtKB/TrEMBL
    B5M0B7
    Conserved Domains (1) summary
    pfam10204
    Location:11283
    DuoxA; Dual oxidase maturation factor
  12. XM_011522185.1XP_011520487.1  dual oxidase maturation factor 1 isoform X5

    Conserved Domains (1) summary
    pfam10204
    Location:11189
    DuoxA; Dual oxidase maturation factor
  13. XM_011522184.1XP_011520486.1  dual oxidase maturation factor 1 isoform X4

    Conserved Domains (1) summary
    pfam10204
    Location:11188
    DuoxA; Dual oxidase maturation factor
  14. XM_011522186.2XP_011520488.1  dual oxidase maturation factor 1 isoform X6

    Related
    ENSP00000453614.1, OTTHUMP00000247352, ENST00000559013.5, OTTHUMT00000416240
    Conserved Domains (1) summary
    pfam10204
    Location:11184
    DuoxA; Dual oxidase maturation factor

RNA

  1. XR_931942.1 RNA Sequence

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