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    Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 [ Mus musculus (house mouse) ]

    Gene ID: 232491, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Pyroxd1provided by MGI
    Official Full Name
    pyridine nucleotide-disulphide oxidoreductase domain 1provided by MGI
    Primary source
    MGI:MGI:2676395
    See related
    Ensembl:ENSMUSG00000041671 AllianceGenome:MGI:2676395
    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
    Summary
    Predicted to enable oxidoreductase activity. Predicted to be involved in cellular response to oxidative stress. Located in cytoplasm and nucleus. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in myofibrillar myopathy 8. Orthologous to human PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 5.3), CNS E14 (RPKM 4.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pyroxd1 in Genome Data Viewer
    Location:
    6 G2; 6 73.9 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (142291381..142307881)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (142345627..142362729)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family, member 1a5 Neighboring gene STARR-seq mESC enhancer starr_17703 Neighboring gene islet amyloid polypeptide Neighboring gene 60S ribosomal protein L18 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E6502 Neighboring gene RecQ protein-like Neighboring gene STARR-positive B cell enhancer ABC_E1716 Neighboring gene golgi transport 1B Neighboring gene spexin hormone

    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. The oxidoreductase PYROXD1 uses NAD(P)(+) as an antioxidant to sustain tRNA ligase activity in pre-tRNA splicing and unfolded protein response. Asanović I, et al. Mol Cell, 2021 Jun 17. PMID 33930333
    2. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Saha M, et al. Physiol Genomics, 2018 Nov 1. PMID 30345904, Free PMC Article
    3. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    4. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pyroxd1 role in the proliferation, migration, and differentiation of murine myoblasts.
      Title: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sarcomere ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcomere ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1
    NP_001398550.1
    NP_001398551.1
    NP_898988.2

    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_001411621.1 → NP_001398550.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC102125

    2. NM_001411622.1 → NP_001398551.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC102125

    3. NM_183165.4 → NP_898988.2  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_898988.2

      Status: VALIDATED

      Source sequence(s)
      AC102125
      Consensus CDS
      CCDS20681.1
      UniProtKB/Swiss-Prot
      Q3TMV7, Q3UFM2, Q8R2X5
      Related
      ENSMUSP00000036394.8, ENSMUST00000041852.8
      Conserved Domains (1) summary
      pfam07992
      Location:76 → 381
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

    RNA

    1. NR_177438.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC102125

    2. NR_177439.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC102125

    3. NR_177440.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC102125

    4. NR_177441.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC102125

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      142291381..142307881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3TMV7.1 GenPept UniProtKB/Swiss-Prot:Q3TMV7

    Gene LinkOut

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

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