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IFI30 IFI30 lysosomal thiol reductase [ Homo sapiens (human) ]

Gene ID: 10437, updated on 18-Aug-2020

Summary

Official Symbol
IFI30provided by HGNC
Official Full Name
IFI30 lysosomal thiol reductaseprovided by HGNC
Primary source
HGNC:HGNC:5398
See related
Ensembl:ENSG00000216490 MIM:604664
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GILT; IP30; IP-30; IFI-30
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 important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]
Expression
Broad expression in appendix (RPKM 362.8), lung (RPKM 227.6) and 16 other tissues See more
Orthologs

Genomic context

See IFI30 in Genome Data Viewer
Location:
19p13.11
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18173813..18178117)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18284590..18288934)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene interleukin 12 receptor subunit beta 1 Neighboring gene microtubule associated serine/threonine kinase 3 Neighboring gene phosphoinositide-3-kinase regulatory subunit 2 Neighboring gene uncharacterized LOC102725254 Neighboring gene MPV17 mitochondrial inner membrane protein like 2 Neighboring gene RAB3A, member RAS oncogene family

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 LAI replication is restricted through the thiol reductase function of IFI30 (GILT) in TE671/CD4 cells as knockdown with shRNA and mutations to the active site abrogate restriction PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of interferon, gamma-inducible protein 30 (IFI30) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PIK3R2

Homology

Clone Names

  • MGC32056

Gene Ontology Provided by GOA

Function Evidence Code Pubs
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, acting on a sulfur group of donors EXP
Inferred from Experiment
more info
PubMed 
oxidoreductase activity, acting on a sulfur group of donors IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, acting on a sulfur group of donors IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
gamma-interferon-inducible lysosomal thiol reductase
Names
gamma-interferon-inducible protein IP-30
interferon gamma-inducible protein 30 preproprotein
interferon, gamma-inducible protein 30
legumaturain

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006332.5NP_006323.2  gamma-interferon-inducible lysosomal thiol reductase preproprotein

    See identical proteins and their annotated locations for NP_006323.2

    Status: REVIEWED

    Source sequence(s)
    BC021136
    Consensus CDS
    CCDS46015.1
    UniProtKB/Swiss-Prot
    P13284
    UniProtKB/TrEMBL
    A0A024R7N7
    Related
    ENSP00000384886.1, ENST00000407280.4
    Conserved Domains (1) summary
    pfam03227
    Location:63164
    GILT; Gamma interferon inducible lysosomal thiol reductase (GILT)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    18173813..18178117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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