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    ILRUN inflammation and lipid regulator with UBA-like and NBR1-like domains [ Homo sapiens (human) ]

    Gene ID: 64771, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ILRUNprovided by HGNC
    Official Full Name
    inflammation and lipid regulator with UBA-like and NBR1-like domainsprovided by HGNC
    Primary source
    HGNC:HGNC:21215
    See related
    Ensembl:ENSG00000196821 MIM:612217; AllianceGenome:HGNC:21215
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FP852; C6orf106; dJ391O22.4
    Summary
    This gene encodes a protein with N-terminal ubiquitin-associated (UBA)-like and central neighbor of BRCA1 gene 1 (NBR1)-like domains. The protein acts an inhibitor of antiviral and proinflammatory cytokine transcription and as a regulator of the renin-angiotensin-aldosterone system (RAAS). [provided by RefSeq, Jul 2021]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in fat (RPKM 19.9), testis (RPKM 15.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p21.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (34587288..34696767, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (34411143..34520743, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (34555065..34664544, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr6:34505376-34505582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:34518352-34519346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:34522694-34523210 Neighboring gene SAM pointed domain containing ETS transcription factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:34528110-34528841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:34528842-34529572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:34529573-34530303 Neighboring gene IFITM3 pseudogene 3 Neighboring gene ribosomal protein L7 pseudogene 25 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:34610756-34610930 Neighboring gene NFE2L2 motif-containing MPRA enhancer 28 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:34629950-34630131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24385 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:34646295-34646510 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC105375028 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, 7SL, cytoplasmic 200, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17081 Neighboring gene ILRUN antisense RNA 1 Neighboring gene ATP6V1F pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:34710368-34710541 Neighboring gene ribosomal protein S10 pseudogene 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Molecular characterisation of ILRUN, a novel inhibitor of proinflammatory and antimicrobial cytokines. Ambrose RL, et al. Heliyon, 2020 Jun. PMID 32518853, Free PMC Article
    2. C6orf106 accelerates pancreatic cancer cell invasion and proliferation via activating ERK signaling pathway. Li X, et al. Mol Cell Biochem, 2019 Apr. PMID 30311108
    3. A novel biomarker C6orf106 promotes the malignant progression of breast cancer. Jiang G, et al. Tumour Biol, 2015 Sep. PMID 25953261
    4. Enhancement of PPAR-beta activity by repetitive low-grade H(2)O(2) stress protects human umbilical vein endothelial cells from subsequent oxidative stress-induced apoptosis. Jiang B, et al. Free Radic Biol Med, 2009 Mar 1. PMID 19059477
    5. ILRUN Downregulates ACE2 Expression and Blocks Infection of Human Cells by SARS-CoV-2. Tribolet L, et al. J Virol, 2021 Jul 12. PMID 33963054, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ILRUN Downregulates ACE2 Expression and Blocks Infection of Human Cells by SARS-CoV-2.
      Title: ILRUN Downregulates ACE2 Expression and Blocks Infection of Human Cells by SARS-CoV-2.
    2. C6orf106 facilitates invasion and proliferation of pancreatic cancer cells, likely via activating ERK-P90RSK signaling pathway.
      Title: C6orf106 accelerates pancreatic cancer cell invasion and proliferation via activating ERK signaling pathway.
    3. we detected a novel obesity and BMI-associated locus at PKHD1 and novel variants driving associations at previously established signals (e.g. rs205262 at the SNRPC/C6orf106 locus and rs112446794 at the PRDM6-CEP120 locus).
      Title: Genetic architecture of human thinness compared to severe obesity.
    4. High C6orf106 expression is associated with innate antiviral response.
      Title: C6orf106 is a novel inhibitor of the interferon-regulatory factor 3-dependent innate antiviral response.
    5. High C6orf106 expression was significantly correlated with lymph node metastasis in triple-negative breast cancer.
      Title: A novel biomarker C6orf106 promotes the malignant progression of breast cancer.
    6. C6orf106 promotes invasion in NSCLC cells. Finally, C6orf106 upregulates vimentin, and downregulates E-cadherin and P120ctn.
      Title: C6orf106 enhances NSCLC cell invasion by upregulating vimentin, and downregulating E-cadherin and P120ctn.
    7. up-regulated expression by repetitive low-grade oxidative stress through p38MAPK or NF-kappaB pathways
      Title: Enhancement of PPAR-beta activity by repetitive low-grade H(2)O(2) stress protects human umbilical vein endothelial cells from subsequent oxidative stress-induced apoptosis.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.
    9. DSCR2 was found to interact with PPARbeta and to inhibit it.
      Title: Down syndrome critical region 2 protein inhibits the transcriptional activity of peroxisome proliferator-activated receptor beta in HEK293 cells.
    10. Ethanol, but not acetaldehyde, inhibited PPAR-beta transactivation.
      Title: PPARalpha and PPARbeta are differentially affected by ethanol and the ethanol metabolite acetaldehyde in the MCF-7 breast cancer cell line.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    EBI GWAS Catalog
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4614, FLJ22195, FLJ32402

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in macroautophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of type I interferon production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in phagophore assembly site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein ILRUN
    Names
    inflammation and lipid regulator with UBA-like and NBR1-like domains protein
    uncharacterized protein C6orf106

    NCBI Reference Sequences (RefSeq)

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    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_022758.6 → NP_073595.2  protein ILRUN isoform b

      See identical proteins and their annotated locations for NP_073595.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform b, which is shorter than isoform a.
      Source sequence(s)
      AL031577, AL451165
      Consensus CDS
      CCDS4795.1
      UniProtKB/Swiss-Prot
      Q9H6K1
      Related
      ENSP00000363138.3, ENST00000374026.7
      Conserved Domains (2) summary
      cd14349
      Location:23 → 64
      UBA_CF106; UBA-like domain found in uncharacterized protein C6orf106 and similar proteins
      cd14947
      Location:71 → 169
      NBR1_like; Functionally uncharacterized domain in neighbor of Brca1 Gene 1 and related proteins

    2. NM_024294.4 → NP_077270.1  protein ILRUN isoform a

      See identical proteins and their annotated locations for NP_077270.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL031577, AL451165
      Consensus CDS
      CCDS4796.1
      UniProtKB/Swiss-Prot
      B2R8K7, Q5VV77, Q96MG5, Q9BUR9, Q9H6K1
      Related
      ENSP00000363135.3, ENST00000374023.8
      Conserved Domains (2) summary
      cd14349
      Location:23 → 64
      UBA_CF106; UBA-like domain found in uncharacterized protein C6orf106 and similar proteins
      cd14947
      Location:71 → 180
      NBR1_like; Functionally uncharacterized domain in neighbor of Brca1 Gene 1 and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      34587288..34696767 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249298.4 → XP_005249355.1  protein ILRUN isoform X1

      See identical proteins and their annotated locations for XP_005249355.1

      Conserved Domains (2) summary
      cd14349
      Location:23 → 64
      UBA_CF106; UBA-like domain found in uncharacterized protein C6orf106 and similar proteins
      cd14947
      Location:71 → 180
      NBR1_like; Functionally uncharacterized domain in neighbor of Brca1 Gene 1 and related proteins

    RNA

    1. XR_926300.4 RNA Sequence

    2. XR_007059333.1 RNA Sequence

    3. XR_007059332.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      34411143..34520743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356238.1 → XP_054212213.1  protein ILRUN isoform X1

    RNA

    1. XR_008487430.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6K1.2 GenPept UniProtKB/Swiss-Prot:Q9H6K1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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