Human Gene PYROXD1 (uc001rew.3) Description and Page Index
  Description: Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.
RefSeq Summary (NM_024854): This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017].
Transcript (Including UTRs)
   Position: hg19 chr12:21,590,538-21,624,182 Size: 33,645 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr12:21,590,665-21,621,688 Size: 31,024 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:21,590,538-21,624,182)mRNA (may differ from genome)Protein (500 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1; EC=1.8.1.-;
COFACTOR: Binds 1 FAD per subunit (By similarity).
SIMILARITY: Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. PYROXD1 subfamily.
SEQUENCE CAUTION: Sequence=BAB15214.1; Type=Frameshift; Positions=445;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PYROXD1
CDC HuGE Published Literature: PYROXD1

-  MalaCards Disease Associations
  MalaCards Gene Search: PYROXD1
Diseases sorted by gene-association score: myopathy, myofibrillar, 8* (1229), myofibrillar myopathy (7), myopathy (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.34 RPKM in Testis
Total median expression: 101.64 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.70127-0.368 Picture PostScript Text
3' UTR -551.682494-0.221 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013027 - FAD_pyr_nucl-diS_OxRdtase
IPR023753 - Pyr_nucl-diS_OxRdtase_FAD/NAD

Pfam Domains:
PF07992 - Pyridine nucleotide-disulphide oxidoreductase

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
51971 - Nucleotide-binding domain

ModBase Predicted Comparative 3D Structure on Q8WU10
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0016491 oxidoreductase activity

Biological Process:
GO:0034599 cellular response to oxidative stress
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030017 sarcomere

-  Descriptions from all associated GenBank mRNAs
  AK293820 - Homo sapiens cDNA FLJ60446 complete cds.
AL832441 - Homo sapiens mRNA; cDNA DKFZp762G094 (from clone DKFZp762G094).
AK025681 - Homo sapiens cDNA: FLJ22028 fis, clone HEP08589.
AK307710 - Homo sapiens cDNA, FLJ97658.
BC021662 - Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1, mRNA (cDNA clone MGC:22177 IMAGE:3826938), complete cds.
CU692376 - Synthetic construct Homo sapiens gateway clone IMAGE:100019693 5' read PYROXD1 mRNA.
KJ894753 - Synthetic construct Homo sapiens clone ccsbBroadEn_04147 PYROXD1 gene, encodes complete protein.
AK125461 - Homo sapiens cDNA FLJ43472 fis, clone OCBBF2037638.
DQ587073 - Homo sapiens piRNA piR-54185, complete sequence.
JD265082 - Sequence 246106 from Patent EP1572962.
JD248870 - Sequence 229894 from Patent EP1572962.
JD087891 - Sequence 68915 from Patent EP1572962.
JD100836 - Sequence 81860 from Patent EP1572962.
JD428782 - Sequence 409806 from Patent EP1572962.
JD063671 - Sequence 44695 from Patent EP1572962.
JD096550 - Sequence 77574 from Patent EP1572962.
AK095813 - Homo sapiens cDNA FLJ38494 fis, clone FEKID1000018.
JD063671 - Sequence 44695 from Patent EP1572962.
JD096550 - Sequence 77574 from Patent EP1572962.
DQ786312 - Homo sapiens clone HLS_IMAGE_809394 mRNA sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NKI6, NM_024854, NP_079130, PYRD1_HUMAN, Q8WU10, Q9H6P1
UCSC ID: uc001rew.3
RefSeq Accession: NM_024854
Protein: Q8WU10 (aka PYRD1_HUMAN)
CCDS: CCDS31755.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_024854.3
exon count: 12CDS single in 3' UTR: no RNA size: 4136
ORF size: 1503CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3206.00frame shift in genome: no % Coverage: 99.71
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.