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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
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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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