Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10437
Gene name	IFI30 lysosomal thiol reductase
Gene symbol	IFI30
Synonyms (NCBI Gene)	GILTIFI-30IP-30IP30
Chromosome	19
Chromosome location	19p13.11
Summary	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

Show/Hide all (50)

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
MIRT1060206	hsa-miR-2681	CLIP-seq
MIRT1060207	hsa-miR-29a	CLIP-seq
MIRT1060208	hsa-miR-29b	CLIP-seq
MIRT1060209	hsa-miR-29c	CLIP-seq
MIRT1060210	hsa-miR-3126-3p	CLIP-seq
MIRT1060211	hsa-miR-3163	CLIP-seq
MIRT1060212	hsa-miR-3180-5p	CLIP-seq
MIRT1060213	hsa-miR-3187-5p	CLIP-seq
MIRT1060214	hsa-miR-342-5p	CLIP-seq
MIRT1060215	hsa-miR-3665	CLIP-seq
MIRT1060216	hsa-miR-3681	CLIP-seq
MIRT1060217	hsa-miR-378g	CLIP-seq
MIRT1060218	hsa-miR-4282	CLIP-seq
MIRT1060219	hsa-miR-4320	CLIP-seq
MIRT1060220	hsa-miR-4460	CLIP-seq
MIRT1060221	hsa-miR-4486	CLIP-seq
MIRT1060222	hsa-miR-4651	CLIP-seq
MIRT1060223	hsa-miR-4664-5p	CLIP-seq
MIRT1060224	hsa-miR-4690-5p	CLIP-seq
MIRT1060225	hsa-miR-4727-3p	CLIP-seq
MIRT1060226	hsa-miR-4782-5p	CLIP-seq
MIRT1060227	hsa-miR-526b	CLIP-seq
MIRT1060228	hsa-miR-562	CLIP-seq
MIRT1060229	hsa-miR-599	CLIP-seq
MIRT1060230	hsa-miR-608	CLIP-seq
MIRT1060231	hsa-miR-612	CLIP-seq
MIRT1060232	hsa-miR-764	CLIP-seq
MIRT1060233	hsa-miR-767-5p	CLIP-seq
MIRT2014082	hsa-miR-1260	CLIP-seq
MIRT2014083	hsa-miR-1260b	CLIP-seq
MIRT2014084	hsa-miR-188-3p	CLIP-seq
MIRT2014085	hsa-miR-3156-3p	CLIP-seq
MIRT2014086	hsa-miR-383	CLIP-seq
MIRT2014087	hsa-miR-4301	CLIP-seq
MIRT1060207	hsa-miR-29a	CLIP-seq
MIRT1060208	hsa-miR-29b	CLIP-seq
MIRT1060209	hsa-miR-29c	CLIP-seq
MIRT1060216	hsa-miR-3681	CLIP-seq
MIRT1060219	hsa-miR-4320	CLIP-seq
MIRT1060220	hsa-miR-4460	CLIP-seq
MIRT1060222	hsa-miR-4651	CLIP-seq
MIRT1060225	hsa-miR-4727-3p	CLIP-seq
MIRT1060227	hsa-miR-526b	CLIP-seq
MIRT1060230	hsa-miR-608	CLIP-seq
MIRT1060233	hsa-miR-767-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	3136170
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	10639150
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	TAS	3136170
GO:0005829	Component	Cytosol	IDA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016667	Function	Oxidoreductase activity, acting on a sulfur group of donors	EXP	10639150, 17142755
GO:0016667	Function	Oxidoreductase activity, acting on a sulfur group of donors	IBA
GO:0016667	Function	Oxidoreductase activity, acting on a sulfur group of donors	IMP	10639150
GO:0016671	Function	Oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0030054	Component	Cell junction	IDA
GO:0042590	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I	IEA
GO:0042590	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I	ISS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0048147	Process	Negative regulation of fibroblast proliferation	IEA
GO:0050821	Process	Protein stabilization	IEA

MIM	HGNC	e!Ensembl
604664	5398	ENSG00000216490

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
EEECKFNKVEACVLDELDMELAFLTIVCMEEFEDMERSLPLCLQLYAPGLSPDTIMECAM
GDRGMQLMHANAQRTDALQPPHEYVPWVTVNGKPLEDQTQLLTLVCQLYQGKKPDVCPSS
TSSLRSVCFK

Sequence length

250

Interactions

View interactions

	KEGG		Reactome
	Antigen processing and presentation		MHC class II antigen presentation Interferon gamma signaling

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DERMATITIS, ALLERGIC CONTACT	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	17330099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	17330099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29578071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25333930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25333930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	18770863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21701784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	17597826		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28035522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16947022, 35436915, 39925804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32969157	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30587343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32969157, 35436915, 37408388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	23855819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	21701784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	17330099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	15550490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25333930		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12021307, 18343923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12021307, 28857256, 31591149, 35162988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15240658, 26930048, 31591149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26930048	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21701784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28857256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	9571201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	25333930, 30587343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	35173708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	18410276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	LHGDN	18410276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevi and Melanomas	Congenital melanocytic nevus syndrome	BEFREE	26930048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22178353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36499557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	18193462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37215115	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

IFI30 (IFI30 lysosomal thiol reductase)