• Gene id: 79912

Gene Summary

• Gene Symbol: PYROXD1   Gene   UCSC   Ensembl
• Aliases: MFM8
• Gene name: pyridine nucleotide-disulphide oxidoreductase domain 1
• Alternate names: pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1,
• Gene location: 12p12.1 (21437629: 21471251)     Exons: 2     NC_000012.12
• Gene summary(Entrez): 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 pyri
• OMIM: 617220

Protein Summary

• Protein general information: Q8WU10  
  • Name: Pyridine nucleotide disulfide oxidoreductase domain containing protein 1 (EC 1.8.1. )
  • Length: 500  
  • Mass: 55793
• Sequence:

  MEAARPPPTAGKFVVVGGGIAGVTCAEQLATHFPSEDILLVTASPVIKAVTNFKQISKILEEFDVEEQSSTMLGK
  RFPNIKVIESGVKQLKSEEHCIVTEDGNQHVYKKLCLCAGAKPKLICEGNPYVLGIRDTDSAQEFQKQLTKAKRI
  MIIGNGGIALELVYEIEGCEVIWAIKDKAIGNTFFDAGAAEFLTSKLIAEKSEAKIAHKRTRYTTEGRKKEARSK
  SKADNVGSALGPDWHEGLNLKGTKEFSHKIHLETMCEVKKIYLQDEFRILKKKSFTFPRDHKSVTADTEMWPVYV
  ELTNEKIYGCDFIVSATGVTPNVEPFLHGNSFDLGEDGGLKVDDHMHTSLPDIYAAGDICTTSWQLSPVWQQMRL
  WTQARQMGWYAAKCMAAASSGDSIDMDFSFELFAHVTKFFNYKVVLLGKYNAQGLGSDHELMLRCTKGREYIKVV
  MQNGRMMGAVLIGETDLEETFENLILNQMNLSSYGEDLLDPNIDIEDYFD

• Structural information:
  • Interpro: IPR036188  IPR023753  IPR041575  
  • STRING: ENSP00000240651
• Other Databases: GeneCards:  PYROXD1  Malacards:  PYROXD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030017	sarcomere	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0034599	cellular response to oxidative stress	IMP	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Myofibrillar myopathies	KEGG:H00595
Myofibrillar myopathies	KEGG:H00595
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R