• Gene id: 10437

Gene Summary

• Gene Symbol: IFI30   Gene   UCSC   Ensembl
• Aliases: GILT, IFI-30, IP-30, IP30
• Gene name: IFI30 lysosomal thiol reductase
• Alternate names: gamma-interferon-inducible lysosomal thiol reductase, gamma-interferon-inducible protein IP-30, interferon gamma-inducible protein 30 preproprotein, interferon, gamma-inducible protein 30, legumaturain,
• Gene location: 19p13.11 (19901982: 19896630)     Exons: 3     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an i
• OMIM: 604664

Protein Summary

• Protein general information: P13284  
  • Name: Gamma interferon inducible lysosomal thiol reductase (EC 1.8. . ) (Gamma interferon inducible protein IP 30) (Legumaturain)
  • Length: 250  
  • Mass: 27964
• Sequence:

  MTLSPLLLFLPPLLLLLDVPTAAVQASPLQALDFFGNGPPVNYKTGNLYLRGPLKKSNAPLVNVTLYYEALCGGC
  RAFLIRELFPTWLLVMEILNVTLVPYGNAQEQNVSGRWEFKCQHGEEECKFNKVEACVLDELDMELAFLTIVCME
  EFEDMERSLPLCLQLYAPGLSPDTIMECAMGDRGMQLMHANAQRTDALQPPHEYVPWVTVNGKPLEDQTQLLTLV
  CQLYQGKKPDVCPSSTSSLRSVCFK

• Structural information:
  • Interpro: IPR004911  
  • STRING: ENSP00000384886
• Other Databases: GeneCards:  IFI30  Malacards:  IFI30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IBA	cellular component
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0016667	oxidoreductase activity, acting on a sulfur group of donors	IBA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0042590	antigen processing and presentation of exogenous peptide antigen via MHC class I	ISS	biological process
GO:0016667	oxidoreductase activity, acting on a sulfur group of donors	IMP	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005764	lysosome	TAS	cellular component
GO:0016667	oxidoreductase activity, acting on a sulfur group of donors	EXP	molecular function
GO:0016667	oxidoreductase activity, acting on a sulfur group of donors	EXP	molecular function
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04612	Antigen processing and presentation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R