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    Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 297708, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pyroxd1provided by RGD
    Official Full Name
    pyridine nucleotide-disulphide oxidoreductase domain 1provided by RGD
    Primary source
    RGD:1303253
    See related
    EnsemblRapid:ENSRNOG00000012472 AllianceGenome:RGD:1303253
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable oxidoreductase activity. Predicted to be involved in cellular response to oxidative stress. Predicted to be located in nucleus and sarcomere. 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, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 139.9), Lung (RPKM 111.5) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Pyroxd1 in Genome Data Viewer
    Location:
    4q44
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (177023137..177042152)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (175292124..175311143)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (176565733..176581976)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene solute carrier organic anion transporter family, member 1A5 Neighboring gene islet amyloid polypeptide Neighboring gene uncharacterized LOC102549024 Neighboring gene RecQ like helicase 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. 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
    2. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. O'Grady GL, et al. Am J Hum Genet, 2016 Nov 3. PMID 27745833, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC94881

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    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_001004234.1
    XP_017448086.1
    XP_038963392.1
    XP_038963393.1

    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_001004234.1 → NP_001004234.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1

      See identical proteins and their annotated locations for NP_001004234.1

      Status: PROVISIONAL

      Source sequence(s)
      BC079377
      UniProtKB/Swiss-Prot
      Q68FS6
      UniProtKB/TrEMBL
      F1LR31
      Related
      ENSRNOP00000083610.2, ENSRNOT00000113178.2
      Conserved Domains (1) summary
      pfam07992
      Location:76 → 381
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086022.1 Reference GRCr8

      Range
      177023137..177042152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039107464.2 → XP_038963392.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      F1LR31
      Related
      ENSRNOP00000016794.4, ENSRNOT00000016794.7
      Conserved Domains (1) summary
      cl39093
      Location:31 → 381
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

    2. XM_039107465.2 → XP_038963393.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      cl39093
      Location:31 → 365
      Pyr_redox_2; Pyridine nucleotide-disulphide oxidoreductase

    3. XM_017592597.3 → XP_017448086.1  pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZZN9

    RNA

    1. XR_005503206.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68FS6.1 GenPept UniProtKB/Swiss-Prot:Q68FS6

    Gene LinkOut

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

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