• Gene id: 8544

Gene Summary

• Gene Symbol: PIR   Gene   UCSC   Ensembl
• Gene name: pirin
• Alternate names: pirin, pirin (iron-binding nuclear protein), probable quercetin 2,3-dioxygenase PIR, probable quercetinase,
• Gene location: Xp22.2 (15493587: 15384798)     Exons: 10     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box tran
• OMIM: 300931

Protein Summary

• Protein general information: O00625  
  • Name: Pirin (EC 1.13.11.24) (Probable quercetin 2,3 dioxygenase PIR) (Probable quercetinase)
  • Length: 290  
  • Mass: 32113
  • Tissue specificity: Highly expressed in a subset of melanomas. Detected at very low levels in most tissues (at protein level). Expressed in all tissues, with highest level of expression in heart and liver. {ECO
• Sequence:

  MGSSKKVTLSVLSREQSEGVGARVRRSIGRPELKNLDPFLLFDEFKGGRPGGFPDHPHRGFETVSYLLEGGSMAH
  EDFCGHTGKMNPGDLQWMTAGRGILHAEMPCSEEPAHGLQLWVNLRSSEKMVEPQYQELKSEEIPKPSKDGVTVA
  VISGEALGIKSKVYTRTPTLYLDFKLDPGAKHSQPIPKGWTSFIYTISGDVYIGPDDAQQKIEPHHTAVLGEGDS
  VQVENKDPKRSHFVLIAGEPLREPVIQHGPFVMNTNEEISQAILDFRNAKNGFERAKTWKSKIGN

• Structural information:
  • Interpro: IPR012093  IPR008778  IPR003829  IPR014710  IPR011051  
  • PDB: 1J1L 3ACL 4ERO 4EWA 4EWD 4EWE 4GUL 4HLT 5JCT 6H1H 6H1I 6N0J 6N0K
  • PDBsum: 1J1L 3ACL 4ERO 4EWA 4EWD 4EWE 4GUL 4HLT 5JCT 6H1H 6H1I 6N0J 6N0K
  • STRING: ENSP00000369786
• Other Databases: GeneCards:  PIR  Malacards:  PIR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030224	monocyte differentiation	IBA	biological process
GO:0008127	quercetin 2,3-dioxygenase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003712	transcription coregulator activity	IMP	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0003712	transcription coregulator activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0008127	quercetin 2,3-dioxygenase activity	IEA	molecular function
GO:0030224	monocyte differentiation	IMP	biological process
GO:0007586	digestion	TAS	biological process
GO:0008127	quercetin 2,3-dioxygenase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0030099	myeloid cell differentiation	IEA	biological process
GO:0008127	quercetin 2,3-dioxygenase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903506	regulation of nucleic acid-templated transcription	IEA	biological process
GO:1903506	regulation of nucleic acid-templated transcription	IEA	biological process
GO:0046872	metal ion binding	IDA	molecular function
GO:0008127	quercetin 2,3-dioxygenase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881