Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10437 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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IFI30 |
SynonymsGene synonyms aliases
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GILT, IFI-30, IP-30, IP30 |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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19p13.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Myeloid leukemia |
Acute Myeloid Leukemia, M1 |
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17330099 |
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