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

Gene ID: 232491, updated on 5-Mar-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, Apr 2022]
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 (17) 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 flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
  
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
  
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 sarcomere ISO
Inferred from Sequence Orthology
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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