IFI30 Gene (Protein Coding)

IFI30 Lysosomal Thiol Reductase

GC19P018173
GIFtS:
40
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 important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008] See more...

Aliases for IFI30 Gene

Aliases for IFI30 Gene

  • IFI30 Lysosomal Thiol Reductase 2 3 5
  • Gamma-Interferon-Inducible Lysosomal Thiol Reductase 2 3 4
  • Legumaturain 2 3 4
  • Interferon Gamma-Inducible Protein 30 Preproprotein 2 3
  • Gamma-Interferon-Inducible Protein IP-30 3 4
  • GILT 3 4
  • IP30 3 4
  • Interferon, Gamma-Inducible Protein 30 3
  • Interferon Gamma Inducible Protein 30 2
  • IFI30, Lysosomal Thiol Reductase 2
  • EC 1.8.-.- 4
  • IFI-30 3
  • IP-30 3

External Ids for IFI30 Gene

Previous GeneCards Identifiers for IFI30 Gene

  • GC19P018778
  • GC19P018676
  • GC19P018129
  • GC19P018145
  • GC19P018284
  • GC19P017848
  • GC19P018401

Summaries for IFI30 Gene

Entrez Gene Summary for IFI30 Gene

  • 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 important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]

GeneCards Summary for IFI30 Gene

IFI30 (IFI30 Lysosomal Thiol Reductase) is a Protein Coding gene. Diseases associated with IFI30 include Vaginal Discharge and Endometrial Disease. Among its related pathways are Interferon gamma signaling and G-protein signaling N-RAS regulation pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on a sulfur group of donors.

UniProtKB/Swiss-Prot Summary for IFI30 Gene

  • Lysosomal thiol reductase that can reduce protein disulfide bonds. May facilitate the complete unfolding of proteins destined for lysosomal degradation. Plays an important role in antigen processing. Facilitates the generation of MHC class II-restricted epitodes from disulfide bond-containing antigen by the endocytic reduction of disulfide bonds (By similarity). Facilitates also MHC class I-restricted recognition of exogenous antigens containing disulfide bonds by CD8+ T-cells or crosspresentation (By similarity).

Gene Wiki entry for IFI30 Gene

Additional gene information for IFI30 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFI30 Gene

Genomics for IFI30 Gene

GeneHancer (GH) Regulatory Elements for IFI30 Gene

Promoters and enhancers for IFI30 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFI30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IFI30 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • Egr-1
  • LCR-F1
  • MyoD
  • NF-kappaB1
  • Pax-5
  • USF-1
  • USF1

Genomic Locations for IFI30 Gene

Genomic Locations for IFI30 Gene
chr19:18,173,162-18,178,124
(GRCh38/hg38)
Size:
4,963 bases
Orientation:
Plus strand
chr19:18,283,972-18,288,927
(GRCh37/hg19)
Size:
4,956 bases
Orientation:
Plus strand

Genomic View for IFI30 Gene

Genes around IFI30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFI30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFI30 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IFI30 Gene

Proteins for IFI30 Gene

Products:

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  • Protein details for IFI30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13284-GILT_HUMAN
    Recommended name:
    Gamma-interferon-inducible lysosomal thiol reductase
    Protein Accession:
    P13284
    Secondary Accessions:
    • Q76MF9
    • Q8NEI4
    • Q8WU77
    • Q9UL08

    Protein attributes for IFI30 Gene

    Size:
    250 amino acids
    Molecular mass:
    27964 Da
    Quaternary structure:
    • Dimer; disulfide-linked.
    Miscellaneous:
    • Both precursor form and mature form have thiol reductase activity.
    SequenceCaution:
    • Sequence=AAA36105.1; Type=Erroneous termination; Positions=251; Note=Translated as stop.; Evidence={ECO:0000305}; Sequence=AAA36105.1; Type=Frameshift; Positions=146, 174; Evidence={ECO:0000305}; Sequence=AAA36105.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. N-terminal sequence identical to a region of chromosome 11.; Evidence={ECO:0000305}; Sequence=AAF04618.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. N-terminal sequence identical to a region of chromosome 11.; Evidence={ECO:0000305};

neXtProt entry for IFI30 Gene

Protein Expression for IFI30 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IFI30 Gene

  • N-glycosylated. Sugar chains contain mannose-6-phosphate.
  • Synthesized as a 35 kDa precursor which is then processed into the mature 30 kDa form via cleavage of N-terminal and C-terminal propeptides. Processing of the precursor is mediated by multiple lysosomal proteases.
  • Glycosylation at Asn63, Asn95, and Asn108
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for IFI30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IFI30 Gene

Domains & Families for IFI30 Gene

Gene Families for IFI30 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for IFI30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFI30 Gene

GenScript: Design optimal peptide antigens:
  • Legumaturain (GILT_HUMAN)
  • Interferon gamma-inducible protein 30 (Q96P99_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13284

UniProtKB/Swiss-Prot:

GILT_HUMAN :
  • Belongs to the GILT family.
Family:
  • Belongs to the GILT family.
genes like me logo Genes that share domains with IFI30: view

Function for IFI30 Gene

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  2. CRISPR
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Molecular function for IFI30 Gene

UniProtKB/Swiss-Prot Function:
Lysosomal thiol reductase that can reduce protein disulfide bonds. May facilitate the complete unfolding of proteins destined for lysosomal degradation. Plays an important role in antigen processing. Facilitates the generation of MHC class II-restricted epitodes from disulfide bond-containing antigen by the endocytic reduction of disulfide bonds (By similarity). Facilitates also MHC class I-restricted recognition of exogenous antigens containing disulfide bonds by CD8+ T-cells or crosspresentation (By similarity).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1200 uM for F(ab')2 fragment when denatured {ECO:0000269 PubMed:10639150}; KM=10 uM for F(ab')2 fragment {ECO:0000269 PubMed:10639150}; Note=Kinetic parameters shown are for mature enzyme.; pH dependence: Optimum pH is 4-5. {ECO:0000269 PubMed:10639150};
UniProtKB/Swiss-Prot Induction:
Expressed constitutively in antigen-presenting cells and induced by IFN-gamma in other cell types.
GENATLAS Biochemistry:
interferon, gamma-inducible protein 30,present and inducible by gamma-interferon (IFN gamma) in cells of the hematopoietic lineage and absent but inducible in non-hematopoietic cells,may be lysosomal in location.

Enzyme Numbers (IUBMB) for IFI30 Gene

Phenotypes From GWAS Catalog for IFI30 Gene

Gene Ontology (GO) - Molecular Function for IFI30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IEA --
GO:0016667 oxidoreductase activity, acting on a sulfur group of donors IMP 10639150
genes like me logo Genes that share ontologies with IFI30: view
genes like me logo Genes that share phenotypes with IFI30: view

Animal Models for IFI30 Gene

MGI Knock Outs for IFI30:

Animal Model Products

  • Taconic Biosciences Mouse Models for IFI30

CRISPR Products

miRNA for IFI30 Gene

miRTarBase miRNAs that target IFI30

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IFI30 Gene

Localization for IFI30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFI30 Gene

Secreted. Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFI30 gene
Compartment Confidence
extracellular 5
lysosome 5
cytosol 4
plasma membrane 3
mitochondrion 1
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFI30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005764 lysosome IDA,TAS 10639150
GO:0005829 cytosol IDA --
GO:0030054 cell junction IDA --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with IFI30: view

Pathways & Interactions for IFI30 Gene

genes like me logo Genes that share pathways with IFI30: view

Pathways by source for IFI30 Gene

1 KEGG pathway for IFI30 Gene
1 GeneGo (Thomson Reuters) pathway for IFI30 Gene

Gene Ontology (GO) - Biological Process for IFI30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I ISS --
GO:0055114 oxidation-reduction process IEA --
GO:0060333 interferon-gamma-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with IFI30: view

No data available for SIGNOR curated interactions for IFI30 Gene

Drugs & Compounds for IFI30 Gene

Products:

  1. Drug

(1) Drugs for IFI30 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with IFI30: view

Transcripts for IFI30 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IFI30 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(662) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFI30 Gene

No ASD Table

Relevant External Links for IFI30 Gene

GeneLoc Exon Structure for
IFI30
ECgene alternative splicing isoforms for
IFI30

Expression for IFI30 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IFI30 Gene

mRNA expression in normal human tissues for IFI30 Gene
mRNA expression by BioGPS for IFI30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IFI30 Gene

This gene is overexpressed in Lymph node (11.0), Monocytes (7.1), Nasal epithelium (7.0), and Oral epithelium (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IFI30 Gene



Protein tissue co-expression partners for IFI30 Gene

NURSA nuclear receptor signaling pathways regulating expression of IFI30 Gene:

IFI30

SOURCE GeneReport for Unigene cluster for IFI30 Gene:

Hs.14623

Evidence on tissue expression from TISSUES for IFI30 Gene

  • Liver(4.4)
  • Skin(4.4)
  • Lung(4.2)
  • Blood(3.1)
  • Pancreas(3.1)
  • Intestine(3)
  • Spleen(2.8)
  • Kidney(2.6)
  • Lymph node(2.3)
  • Nervous system(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with IFI30: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IFI30 Gene

Orthologs for IFI30 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IFI30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia IFI30 33 32
  • 99.6 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia LOC476669 32
  • 77.63 (n)
IFI30 33
  • 65 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ifi30 17 33 32
  • 72.62 (n)
cow
(Bos Taurus)
 Mammalia IFI30 33 32
  • 72.3 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ifi30 32
  • 71.82 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia IFI30 33
  • 45 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia IFI30 33
  • 40 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves IFI30 32
  • 62.96 (n)
GILT 33
  • 42 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia IFI30 33
  • 44 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ifi30 32
  • 56.82 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.13109 32
zebrafish
(Danio rerio)
 Actinopterygii IFI30 (2 of 2) 33
  • 38 (a)
 OneToMany
ifi30 33
  • 37 (a)
 OneToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9935 32
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009747 32
  • 48.79 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG41378 33 32
  • 41.92 (n)
 OneToMany
CG10157 33
  • 26 (a)
 OneToMany
CG9427 33
  • 22 (a)
 OneToMany
CG13822 33
  • 22 (a)
 OneToMany
CG9796 33
  • 20 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea F37H8.5 33
  • 25 (a)
 OneToMany
R07E5.4 33
  • 22 (a)
 OneToMany
Y18D10A.2 33
  • 22 (a)
 OneToMany
ZK669.2 33
  • 20 (a)
 OneToMany
ZK669.3 33
  • 20 (a)
 OneToMany
C02D5.2 33
  • 18 (a)
 OneToMany
pqn-48 33
  • 17 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G07080 32
  • 47.7 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0295800 32
  • 53.68 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.3249 33
  • 27 (a)
 OneToOne
Species where no ortholog for IFI30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IFI30 Gene

ENSEMBL:
Gene Tree for IFI30 (if available)
TreeFam:
Gene Tree for IFI30 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IFI30: view image

Paralogs for IFI30 Gene

No data available for Paralogs for IFI30 Gene

Variants for IFI30 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for IFI30 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1568643863 uncertain-significance, not provided 18,175,604(+) G/A splice_acceptor_variant
rs1000028829 -- 18,175,106(+) T/C coding_sequence_variant, missense_variant
rs1001072455 -- 18,174,100(+) G/T intron_variant
rs1001423445 -- 18,175,900(+) T/C intron_variant
rs1001838530 -- 18,172,489(+) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for IFI30 Gene

Variant ID Type Subtype PubMed ID
nsv1160592 CNV deletion 26073780
nsv833773 CNV loss 17160897
nsv833774 CNV loss 17160897
nsv833775 CNV loss 17160897
nsv952420 CNV deletion 24416366

Variation tolerance for IFI30 Gene

Gene Damage Index Score: 5.84; 73.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IFI30 Gene

Human Gene Mutation Database (HGMD)
IFI30
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFI30

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFI30 Gene

Disorders for IFI30 Gene

MalaCards: The human disease database

(3) MalaCards diseases for IFI30 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
vaginal discharge
endometrial disease
  • endometrial disorder
atrophic rhinitis
  • dry rhinitis
- elite association - COSMIC cancer census association via MalaCards
Search IFI30 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IFI30

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IFI30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IFI30 Gene

Publications for IFI30 Gene

  1. Enzymatic reduction of disulfide bonds in lysosomes: characterization of a gamma-interferon-inducible lysosomal thiol reductase (GILT). (PMID: 10639150) Arunachalam B … Cresswell P (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 23 56
  2. Gamma-interferon-inducible lysosomal thiol reductase (GILT). Maturation, activity, and mechanism of action. (PMID: 10852914) Phan UT … Cresswell P (The Journal of biological chemistry 2000) 3 4 23 56
  3. Molecular and biochemical characterization of a novel gamma-interferon-inducible protein. (PMID: 3136170) Luster AD … Ravetch JV (The Journal of biological chemistry 1988) 2 3 4 56
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 43 56
  5. Neuromyelitis optica/Devic's disease: gene expression profiling of brain lesions. (PMID: 18410276) Satoh J … Konno H (Neuropathology : official journal of the Japanese Society of Neuropathology 2008) 3 23 56

ExternalLinks

View latest publications for IFI30 gene in Mastermind

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Sources for IFI30 Gene