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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IRG1 Gene

protein-coding   GIFtS: 33
GCID: GC13P077511          (predicted)

Immunoresponsive 1 Homolog (Mouse)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Immunoresponsive 1 Homolog (Mouse)1 2     Cis-Aconitate Decarboxylase2
Aconitate Decarboxylase2 3     Immune-Responsive Gene 1 Protein Homolog2
Cis-Aconitic Acid Decarboxylase2 3     EC 4.1.1.63
CAD2 3     Immune-Responsive Gene 1 Protein3

External Ids:    HGNC: 339041   Entrez Gene: 7302492   Ensembl: ENSG000001027947   OMIM: 6152755   UniProtKB: A6NK063   

Export aliases for IRG1 gene to outside databases

Previous GC identifer: GC13P076411


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for IRG1 Gene: 
IRG1 (immunoresponsive 1 homolog (mouse)) is a protein-coding gene. Diseases associated with IRG1 include osteopetrosis, recessive 1, and osteopetrosis. GO annotations related to this gene include 2-methylcitrate dehydratase activity.

UniProtKB/Swiss-Prot: IRG1_HUMAN, A6NK06
Function: Involved in the inhibition of the inflammatory response. Acts as a negative regulator of the Toll-like
receptors (TLRs)-mediated inflammatory innate response by stimulating the tumor necrosis factor alpha-induced
protein TNFAIP3 expression via reactive oxygen species (ROS) in LPS-tolerized macrophages. Involved in
antimicrobial response of innate immune cells; IRG1-mediated itaconic acid production contributes to the
antimicrobial activity of macrophages. Plays a role in the embryo implantation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.2  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IRG1 gene promoter:
         Pax-6   Nkx2-5   HNF-1A   Evi-1   PPAR-alpha   POU2F1   HSF2   HNF-1   POU2F1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIRG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for IRG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IRG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q22.3   Ensembl cytogenetic band:  13q22.3   HGNC cytogenetic band: 13q22.3

IRG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IRG1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P077511:  view genomic region     (about GC identifiers)

Start:
77,511,985 bp from pter      End:
77,532,794 bp from pter
Size:
20,810 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
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About This Section

UniProtKB/Swiss-Prot: IRG1_HUMAN, A6NK06 (See protein sequence)
Recommended Name: Cis-aconitate decarboxylase  
Size: 481 amino acids; 52628 Da
Subcellular location: Mitochondrion (By similarity)

Explore the universe of human proteins at neXtProt for IRG1: NX_A6NK06

Explore proteomics data for IRG1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NK06

  • IRG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IRG1 Protein Expression
    REFSEQ proteins: NP_001245335.1  
    ENSEMBL proteins: 
     ENSP00000366682   ENSP00000401584  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--

    IRG1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR005656 MmgE_PrpD

    Graphical View of Domain Structure for InterPro Entry A6NK06

    ProtoNet protein and cluster: A6NK06

    UniProtKB/Swiss-Prot: IRG1_HUMAN, A6NK06
    Similarity: Belongs to the PrpD family


    IRG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRG1_HUMAN, A6NK06
    Function: Involved in the inhibition of the inflammatory response. Acts as a negative regulator of the Toll-like
    receptors (TLRs)-mediated inflammatory innate response by stimulating the tumor necrosis factor alpha-induced
    protein TNFAIP3 expression via reactive oxygen species (ROS) in LPS-tolerized macrophages. Involved in
    antimicrobial response of innate immune cells; IRG1-mediated itaconic acid production contributes to the
    antimicrobial activity of macrophages. Plays a role in the embryo implantation
    Catalytic activity: Cis-aconitate = itaconate + CO(2)
    Induction: Up-regulated after lipopolysaccharide (LPS) stimulation. Up-regulated in LPS-tolerized macrophage by
    LPS. Up-regulated in peripheral blood mononuclear cells (PBMC) of patient after acute sepsis

         Enzyme Number (IUBMB): EC 4.1.1.61

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00475472-methylcitrate dehydratase activity IEA--
    GO:0047613aconitate decarboxylase activity IDA--
         
    IRG1 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IRG1

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002760positive regulation of antimicrobial humoral response IDA--
    GO:0006952defense response IDA--
    GO:0006954inflammatory response IEA--
    GO:0007566embryo implantation ISS--
    GO:0008152metabolic process IDA--

    IRG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for IRG1 gene: 
    NM_001258406.1  

    Unigene Cluster for IRG1:

    Immunoresponsive 1 homolog (mouse)
    Hs.160789  [show with all ESTs]
    Unigene Representative Sequence: NM_001258406
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377462 ENST00000449753
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    1 DOTS entry:

    DT.70104351 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IRG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IRG1 Expression
    About this image


    See IRG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IRG1

    SOURCE GeneReport for Unigene cluster: Hs.160789

    UniProtKB/Swiss-Prot: IRG1_HUMAN, A6NK06
    Tissue specificity: Expressed in LPS-tolerized macrophages (at protein level). Expressed in peripheral blood
    mononuclear cells (PBMCs), microglia and macrophage cells

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRG1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for IRG1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves IRG16
    immunoresponsive 1 homolog
    65(a)
    1 ↔ 1
    1(153686167-153693674)
    lizard
    (Anolis carolinensis)
    Reptilia IRG16
    immunoresponsive 1 homolog (mouse)
    63(a)
    1 ↔ 1
    3(86669814-86679100)
    zebrafish
    (Danio rerio)
    Actinopterygii irg16
    immunoresponsive gene 1
    56(a)
    1 ↔ 1
    9(22866973-22871390)
            Species with no ortholog for IRG1

    ENSEMBL Gene Tree for IRG1 (if available)
    TreeFam Gene Tree for IRG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/245 SNPs in IRG1 are shown (see all 245)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1814294651,2
    C--77520723(+) CTCATA/CCCCAG 1 -- us2k10--------
    rs1453223701,2
    --77520738(+) GACCAA/CTAGCT 1 -- us2k10--------
    rs1859545581,2
    --77520805(+) GGGTAA/GGGAGA 1 -- us2k10--------
    rs1896717761,2
    --77520840(+) TCGTTA/GCTACA 1 -- us2k10--------
    rs174701711,2
    C,F,H--77520859(+) TTAGAC/AAATAA 1 -- us2k112Minor allele frequency- A:0.13NA NS EA WA 994
    rs1813131501,2
    --77520907(+) CTAAGA/CTTGAT 1 -- us2k10--------
    rs772696441,2
    C,F--77520926(+) GAAGAG/CATAAC 1 -- us2k12Minor allele frequency- C:0.07CSA WA 120
    rs352715641,2
    C--77521005(+) ATGTG-/A/A   
      TG
    /TGA
    TGGTT
    3 -- us2k1 cds10--------
    rs1860687761,2
    --77521088(+) GTTTTA/GGATGA 1 -- us2k10--------
    rs774266561,2
    F--77521192(+) AAAAGG/CCTGAC 1 -- us2k11Minor allele frequency- C:0.09WA 118

    HapMap Linkage Disequilibrium report for IRG1 (77511985 - 77532794 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for IRG1: --
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 615275    OMIM disorders: --

    2 diseases for IRG1:    About MalaCards
    osteopetrosis, recessive 1    osteopetrosis


    IRG1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): IRG1

    Export disorders for IRG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IRG1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with IRG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Immune-responsive gene 1 protein links metabolism to immunity by catalyzing itaconic acid production. (PubMed id 23610393)1, 2, 3 Michelucci A.... Hiller K. (2013)
    2. Immune responsive gene 1 (IRG1) promotes endotoxin tolerance by increasing A20 expression in macrophages through ROS. (PubMed id 23609450)1, 2 Li Y.... Cao X. (2013)
    3. Expression profile of human immune-responsive gene 1 and generation and characterization of polyclonal antiserum. (PubMed id 21424586)1 Xiao W....He Y. (2011)
    4. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 730249 HGNC: 33904 Ensembl:ENSG00000102794 euGenes: HUgn730249 ECgene: IRG1
    H-InvDB: IRG1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IRG1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IRG1 gene:
    Search GeneIP for patents involving IRG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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