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IFI30 (IFI30 lysosomal thiol reductase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10437
Gene nameGene Name - the full gene name approved by the HGNC.
IFI30 lysosomal thiol reductase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
IFI30
SynonymsGene synonyms aliases
GILT, IFI-30, IP-30, IP30
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Antigen processing and presentation   MHC class II antigen presentation
Interferon gamma signaling
Associated diseases
Causal
Disease name Disease term 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, rs11978267, rs4132601 17330099
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 24076602
Unknown
Disease name Disease term dbSNP ID References
Myeloid leukemia Acute Myeloid Leukemia, M1 17330099

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