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Aliases for IFI30 Gene

Aliases for IFI30 Gene

  • IFI30, Lysosomal Thiol Reductase 2 3 5
  • Legumaturain 2 3 4
  • Gamma-Interferon-Inducible Lysosomal Thiol Reductase 2 3
  • 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
  • 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 Atrophic Rhinitis. Among its related pathways are Interferon gamma signaling and Innate Immune System. GO annotations related to this gene include oxidoreductase activity, acting on a sulfur group of donors.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFI30 Gene

Genomics for IFI30 Gene

Regulatory Elements for IFI30 Gene

Enhancers for IFI30 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G018019 2.1 FANTOM5 Ensembl ENCODE dbSUPER 19.2 -150.6 -150565 5.6 HDGF HNRNPUL1 PKNOX1 CREB3L1 MLX ARNT SIN3A ARID4B DMAP1 YY1 ARRDC2 IFI30 LOC440514 COMP UBA52 LRRC25 JUND FCHO1 MAP1S ELL
GH19G018482 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22 +310.3 310340 1.4 HDGF ATF1 AGO1 SIN3A GLIS2 ZNF143 ZNF207 KLF13 ZNF263 SP3 IFI30 SSBP4 LRRC25 ARRDC2 ELL HOMER3 GC19M018475
GH19G018372 2.1 FANTOM5 Ensembl ENCODE dbSUPER 17.6 +207.9 207939 18.0 MLX CREB3L1 AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ENSG00000268030 COLGALT1 UPF1 ENSG00000268938 MVB12A ENSG00000269191 KXD1 IFI30 GDF15 PGLS
GH19G018472 2.1 FANTOM5 Ensembl ENCODE dbSUPER 17.6 +304.1 304143 8.7 CREB3L1 MLX AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC UPF1 ENSG00000268030 ENSG00000268938 SSBP4 IFI30 ELL ENSG00000269191 COLGALT1 KXD1 RFXANK
GH19G018392 1.7 FANTOM5 Ensembl ENCODE 20.9 +222.8 222785 7.9 FOXA2 ARNT MLX ARID4B ZNF48 YY1 ZNF121 GLIS2 GATA2 FOS IFI30 LRRC25 KIAA1683 LSM4 PGPEP1 GDF15 ELL SSBP4 KCNN1 ARRDC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IFI30 on UCSC Golden Path with GeneCards custom track

Promoters for IFI30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108024 1138 1401 HDGF PKNOX1 AGO1 WRNIP1 ARID4B DMAP1 ZBTB7B YY1 ZNF143 ZNF263

Genomic Location for IFI30 Gene

Chromosome:
19
Start:
18,173,162 bp from pter
End:
18,178,124 bp from pter
Size:
4,963 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 StructureGene Density

RefSeq DNA sequence for IFI30 Gene

Proteins for IFI30 Gene

  • 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

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 isoforms=63, isoforms=95, and isoforms=108
  • Modification sites at PhosphoSitePlus

Other Protein References for IFI30 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for IFI30
  • Cloud-Clone Corp. Antibodies for IFI30
  • Santa Cruz Biotechnology (SCBT) Antibodies for IFI30

No data available for DME Specific Peptides for IFI30 Gene

Domains & Families for IFI30 Gene

Protein Domains for IFI30 Gene

Suggested Antigen Peptide Sequences for IFI30 Gene

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

No data available for Gene Families for IFI30 Gene

Function for IFI30 Gene

Molecular function for IFI30 Gene

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.
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 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 Induction:
Expressed constitutively in antigen-presenting cells and induced by IFN-gamma in other cell types.

Enzyme Numbers (IUBMB) 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

Inhibitory RNA Products

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
cytosol 5
lysosome 5
plasma membrane 3
endosome 1

Gene Ontology (GO) - Cellular Components for IFI30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
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

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:0048147 negative regulation of fibroblast proliferation IEA --
GO:0050821 protein stabilization IEA --
GO:0055114 oxidation-reduction process IEA --
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

(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

mRNA/cDNA for IFI30 Gene

Unigene Clusters for IFI30 Gene

Interferon, gamma-inducible protein 30:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, 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(2.9)
  • 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

Primer Products

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 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia LOC476669 34
  • 77.63 (n)
IFI30 35
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ifi30 34 16 35
  • 72.62 (n)
cow
(Bos Taurus)
Mammalia IFI30 34 35
  • 72.3 (n)
rat
(Rattus norvegicus)
Mammalia Ifi30 34
  • 71.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IFI30 35
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IFI30 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFI30 34
  • 62.96 (n)
GILT 35
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFI30 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ifi30 34
  • 56.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13109 34
zebrafish
(Danio rerio)
Actinopterygii IFI30 (2 of 2) 35
  • 38 (a)
OneToMany
ifi30 35
  • 37 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9935 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009747 34
  • 48.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG41378 34 35
  • 41.92 (n)
CG10157 35
  • 26 (a)
OneToMany
CG13822 35
  • 22 (a)
OneToMany
CG9427 35
  • 22 (a)
OneToMany
CG9796 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F37H8.5 35
  • 25 (a)
OneToMany
R07E5.4 35
  • 22 (a)
OneToMany
Y18D10A.2 35
  • 22 (a)
OneToMany
ZK669.2 35
  • 20 (a)
OneToMany
ZK669.3 35
  • 20 (a)
OneToMany
C02D5.2 35
  • 18 (a)
OneToMany
pqn-48 35
  • 17 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G07080 34
  • 47.7 (n)
rice
(Oryza sativa)
Liliopsida Os03g0295800 34
  • 53.68 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3249 35
  • 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)

Paralogs for IFI30 Gene

No data available for Paralogs for IFI30 Gene

Variants for IFI30 Gene

Sequence variations from dbSNP and Humsavar for IFI30 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000028829 -- 18,175,106(+) CCCTC(C/T)ACTAT reference, missense
rs1001072455 -- 18,174,100(+) GCCGG(G/T)TTCCT intron-variant
rs1001423445 -- 18,175,900(+) TGCAG(C/T)GGCGC intron-variant
rs1001838530 -- 18,172,489(+) TTGGT(C/T)GTCTG upstream-variant-2KB
rs1001978587 -- 18,173,847(+) ATGAC(C/G)CTGTC reference, synonymous-codon

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)

Relevant External Links for IFI30 Gene

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

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

Disorders for IFI30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IFI30 Gene - From: DISEASES and GeneCards

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

Relevant External Links for IFI30

Genetic Association Database (GAD)
IFI30
Human Genome Epidemiology (HuGE) Navigator
IFI30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IFI30
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. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 22 64
  2. Gamma-interferon-inducible lysosomal thiol reductase (GILT). Maturation, activity, and mechanism of action. (PMID: 10852914) Phan U.T. … Cresswell P. (J. Biol. Chem. 2000) 3 4 22 64
  3. Molecular and biochemical characterization of a novel gamma- interferon-inducible protein. (PMID: 3136170) Luster A.D. … Ravetch J.V. (J. Biol. Chem. 1988) 2 3 4 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. Gamma-IFN-inducible-lysosomal thiol reductase modulates acidic proteases and HLA class II antigen processing in melanoma. (PMID: 18343923) Goldstein O.G. … Haque A. (Cancer Immunol. Immunother. 2008) 3 22 64

Products for IFI30 Gene

Sources for IFI30 Gene

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