Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10437
Gene name Gene Name - the full gene name approved by the HGNC.
IFI30 lysosomal thiol reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFI30
Synonyms (NCBI Gene) Gene synonyms aliases
GILT, IFI-30, IP-30, IP30
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez 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 i
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045663 hsa-miR-149-5p CLASH 23622248
MIRT1060202 hsa-miR-1182 CLIP-seq
MIRT1060203 hsa-miR-1285 CLIP-seq
MIRT1060204 hsa-miR-145 CLIP-seq
MIRT1060205 hsa-miR-2113 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005764 Component Lysosome IBA 21873635
GO:0005764 Component Lysosome IDA 10639150
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604664 5398 ENSG00000216490
Protein
UniProt ID P13284
Protein name Gamma-interferon-inducible lysosomal thiol reductase (EC 1.8.-.-) (Gamma-interferon-inducible protein IP-30) (Legumaturain)
Protein 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-re
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03227 GILT 63 166 Gamma interferon inducible lysosomal thiol reductase (GILT) Family
Sequence
MTLSPLLLFLPPLLLLLDVPTAAVQASPLQALDFFGNGPPVNYKTGNLYLRGPLKKSNAP
LVNVTLYYEALCGGCRAFLIRELFPTWLLVMEILNVTLVPYGNAQEQNVSGRWEFKCQHG
EEECKFNKVEACVLDELDMELAFLTIVCMEEFEDMERSLPLCLQLY
APGLSPDTIMECAM
GDRGMQLMHANAQRTDALQPPHEYVPWVTVNGKPLEDQTQLLTLVCQLYQGKKPDVCPSS
TSSLRSVCFK
Sequence length 250
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Antigen processing and presentation   MHC class II antigen presentation
Interferon gamma signaling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Dermatitis Dermatitis, Allergic Contact rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 17597826
Leukemia Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2) rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 17330099
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
24076602
Unknown
Disease term Disease name Evidence References Source
Multiple Sclerosis Multiple Sclerosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37784035
Breast Neoplasms Associate 25333930
COVID 19 Associate 39308856
Glioblastoma Associate 16947022, 35436915, 39925804
Glioblastoma Stimulate 32969157
Glioma Associate 32969157, 35436915, 37408388
Inflammation Associate 34558849
Lewy Body Disease Associate 15550490
Melanoma Associate 12021307, 28857256, 31591149, 35162988
Melanoma Stimulate 26930048