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    Duoxa1 dual oxidase maturation factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 213696, updated on 25-Apr-2024

    Summary

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    Official Symbol
    Duoxa1provided by MGI
    Official Full Name
    dual oxidase maturation factor 1provided by MGI
    Primary source
    MGI:MGI:2384861
    See related
    Ensembl:ENSMUSG00000027224 AllianceGenome:MGI:2384861
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Nip; Nip1
    Summary
    Predicted to enable enzyme binding activity. Acts upstream of or within several processes, including hydrogen peroxide metabolic process; positive regulation of reactive oxygen species metabolic process; and regulation of thyroid hormone generation. Located in plasma membrane. Is expressed in several structures, including brain; genitourinary system; heart; and skeletal muscle. Orthologous to human DUOXA1 (dual oxidase maturation factor 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in bladder adult (RPKM 7.2), mammary gland adult (RPKM 5.1) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    2 E5; 2 60.62 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (122134012..122144255, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (122303540..122313763, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene dual oxidase 2 Neighboring gene dual oxidase maturation factor 2 Neighboring gene dual oxidase 1 Neighboring gene STARR-seq mESC enhancer starr_05553 Neighboring gene Src homology 2 domain containing F Neighboring gene STARR-positive B cell enhancer ABC_E10134 Neighboring gene STARR-seq mESC enhancer starr_05555 Neighboring gene STARR-positive B cell enhancer ABC_E1253 Neighboring gene nuclear encoded tRNA histidine 4 (anticodon GTG) Neighboring gene predicted gene, 39918

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Aberrant Cerebellar Development in Mice Lacking Dual Oxidase Maturation Factors. Amano I, et al. Thyroid, 2016 May. PMID 26914863, Free PMC Article
    2. Dual oxidase maturation factor 1 (DUOXA1) overexpression increases reactive oxygen species production and inhibits murine muscle satellite cell differentiation. Sandiford SD, et al. Cell Commun Signal, 2014 Jan 11. PMID 24410844, Free PMC Article
    3. Structures of mouse DUOX1-DUOXA1 provide mechanistic insights into enzyme activation and regulation. Sun J. Nat Struct Mol Biol, 2020 Nov. PMID 32929281, Free PMC Article
    4. Dual oxidases control release of hydrogen peroxide by the gastric epithelium to prevent Helicobacter felis infection and inflammation in mice. Grasberger H, et al. Gastroenterology, 2013 Nov. PMID 23860501, Free PMC Article
    5. Intestinal Epithelial Cells Respond to Chronic Inflammation and Dysbiosis by Synthesizing H(2)O(2). Burgueño JF, et al. Front Physiol, 2019. PMID 31871440, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structures of mouse DUOX1-DUOXA1 provide mechanistic insights into enzyme activation and regulation.
      Title: Structures of mouse DUOX1-DUOXA1 provide mechanistic insights into enzyme activation and regulation.
    2. The proliferation and migration of granule cells was delayed after P15 in Duoxa-/- mice. However, these changes disappeared by P25. Although the cerebellar structure of Duoxa-/- mice was not significantly different from that of Wt mice at P25, motor coordination was impaired. It was also found that the amplitude of paired-pulse facilitation at parallel fiber-Purkinje cell synapses decreased in Duoxa-/- mice.
      Title: Aberrant Cerebellar Development in Mice Lacking Dual Oxidase Maturation Factors.
    3. DUOXA1 overexpression in muscle stem cells induces apoptosis and inhibits differentiation through DUOX1 and ASK1.
      Title: Dual oxidase maturation factor 1 (DUOXA1) overexpression increases reactive oxygen species production and inhibits murine muscle satellite cell differentiation.
    4. DUOXA1 is a novel p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation.
      Title: p53-mediated regulation of neuronal differentiation via regulation of dual oxidase maturation factor 1.
    5. Nip1 has an important role in the guidance of neuronal differentiation through ROS generation and modulation of intermediate filaments
      Title: Mammalian numb-interacting protein 1/dual oxidase maturation factor 1 directs neuronal fate in stem cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    General gene information

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    Homology

    Clone Names

    • MGC25550

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within hydrogen peroxide metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of hydrogen peroxide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of neuron differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of reactive oxygen species metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of inflammatory response IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of thyroid hormone generation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell leading edge ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    dual oxidase maturation factor 1
    Names
    Numb-interacting protein 1
    dual oxidase activator 1

    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.

    mRNA and Protein(s)

    1. NM_001305262.1 → NP_001292191.1  dual oxidase maturation factor 1

      See identical proteins and their annotated locations for NP_001292191.1

      Status: VALIDATED

      Source sequence(s)
      AL844566, CO039809
      Consensus CDS
      CCDS16661.1
      UniProtKB/Swiss-Prot
      A2AQ97, Q8VE49
      UniProtKB/TrEMBL
      A2AQ96
      Related
      ENSMUSP00000106166.2, ENSMUST00000110537.8
      Conserved Domains (1) summary
      pfam10204
      Location:11 → 283
      DuoxA; Dual oxidase maturation factor

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      122134012..122144255 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006499094.5 → XP_006499157.1  dual oxidase maturation factor 1 isoform X1

      See identical proteins and their annotated locations for XP_006499157.1

      UniProtKB/Swiss-Prot
      A2AQ97, Q8VE49
      UniProtKB/TrEMBL
      A2AQ96
      Related
      ENSMUSP00000028653.8, ENSMUST00000028653.14
      Conserved Domains (1) summary
      pfam10204
      Location:11 → 283
      DuoxA; Dual oxidase maturation factor

    2. XM_017316921.3 → XP_017172410.1  dual oxidase maturation factor 1 isoform X1

      UniProtKB/Swiss-Prot
      A2AQ97, Q8VE49
      UniProtKB/TrEMBL
      A2AQ96
      Conserved Domains (1) summary
      pfam10204
      Location:11 → 283
      DuoxA; Dual oxidase maturation factor

    3. XM_006499091.5 → XP_006499154.1  dual oxidase maturation factor 1 isoform X1

      See identical proteins and their annotated locations for XP_006499154.1

      UniProtKB/Swiss-Prot
      A2AQ97, Q8VE49
      UniProtKB/TrEMBL
      A2AQ96
      Conserved Domains (1) summary
      pfam10204
      Location:11 → 283
      DuoxA; Dual oxidase maturation factor

    4. XM_006499095.5 → XP_006499158.1  dual oxidase maturation factor 1 isoform X1

      See identical proteins and their annotated locations for XP_006499158.1

      UniProtKB/Swiss-Prot
      A2AQ97, Q8VE49
      UniProtKB/TrEMBL
      A2AQ96
      Conserved Domains (1) summary
      pfam10204
      Location:11 → 283
      DuoxA; Dual oxidase maturation factor

    RNA

    1. XR_003951826.2 RNA Sequence

    2. XR_004939454.1 RNA Sequence

    3. XR_003951824.2 RNA Sequence

    4. XR_003951827.2 RNA Sequence

    5. XR_003951825.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145395.2: Suppressed sequence

      Description
      NM_145395.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VE49.2 GenPept UniProtKB/Swiss-Prot:Q8VE49

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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