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Tbio
PYROXD1
Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1

Protein Classes
Protein Summary
Description
Involved in cellular response to oxidative stress. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000240651
  • ENSP00000240651
  • ENSG00000121350
  • ENST00000538582
  • ENSP00000438505

Symbol
  • MFM8
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
kinase perturbation
0.76
histone modification site profile
0.69
cell line
0.64
microRNA
0.59
tissue
0.59


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 8.69   (req: < 5)
Gene RIFs: 2   (req: <= 3)
Antibodies: 63   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 8.69   (req: >= 5)
Gene RIFs: 2   (req: > 3)
Antibodies: 63   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (7)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
bilirubin measurement
2
11
19
97.9
serum gamma-glutamyl transferase measurement
1
1
1
72.3
hemoglobin measurement
2
2
2
66.6
C-reactive protein measurement
1
1
1
57.8
mean platelet volume
1
1
1
48.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
bilirubin measurement
19
97.9
serum gamma-glutamyl transferase measurement
1
72.3
hemoglobin measurement
2
66.6
C-reactive protein measurement
1
57.8
mean platelet volume
1
48.5
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
pyridine nucleotide-disulphide oxidoreductase domain 1
VGNC:13351
465332
Macaque
pyridine nucleotide-disulphide oxidoreductase domain 1
705781
Mouse
MGI:2676395
232491
Rat
RGD:1303253
297708
Dog
pyridine nucleotide-disulphide oxidoreductase domain 1
VGNC:49828
477678
Species
Name
OMA
EggNOG
Inparanoid
Chimp
pyridine nucleotide-disulphide oxidoreductase domain 1
Macaque
pyridine nucleotide-disulphide oxidoreductase domain 1
Mouse
Rat
Dog
pyridine nucleotide-disulphide oxidoreductase domain 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q8WU10-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (4)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (33)
1 – 10 of 33
DHX16
Tbio
Family:  Enzyme
Novelty:  0.02678951
Score:  0.821
Data Source:  STRINGDB
LSM2
Tbio
Novelty:  0.03339237
Score:  0.806
Data Source:  STRINGDB
LSM4
Tbio
Novelty:  0.00616897
Score:  0.791
Data Source:  STRINGDB
UPRT
Tbio
Family:  Enzyme
Novelty:  0.00506163
Score:  0.753
Data Source:  STRINGDB
FAM83G
Tbio
Novelty:  0.13274382
Score:  0.723
Data Source:  STRINGDB
MRPS27
Tbio
Novelty:  0.22058227
Score:  0.68
Data Source:  STRINGDB
PPP6R1
Tbio
Family:  Enzyme
Novelty:  0.0388319
Score:  0.627
Data Source:  STRINGDB
OR2L13
Tdark
Family:  oGPCR
Novelty:  0.3071575
Score:  0.58
Data Source:  STRINGDB
CCDC58
Tdark
Novelty:  1.40672371
Score:  0.576
Data Source:  STRINGDB
JAKMIP3
Tdark
Family:  Enzyme
Novelty:  0.52944633
Score:  0.57
Data Source:  STRINGDB
Publication Statistics
PubMed Score  8.69

PubMed score by year
PubTator Score  0.9

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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