ILRUN (inflammation and lipid regulator with UBA-like and NBR1-like domains)

Gene

• Entrez ID: 64771
• Gene name: Inflammation and lipid regulator with UBA-like and NBR1-like domains
• Gene symbol: ILRUN
• Synonyms (NCBI Gene): C6orf106, FP852, dJ391O22.4
• Chromosome: 6
• Chromosome location: 6p21.31

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000407	Component	Phagophore assembly site	IBA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	29802199
GO:0005634	Component	Nucleus	IDA	29802199
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	29802199
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0016236	Process	Macroautophagy	IBA
GO:0016607	Component	Nuclear speck	IDA
GO:0032480	Process	Negative regulation of type I interferon production	IMP	29802199
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IMP	29802199
GO:0043130	Function	Ubiquitin binding	IBA
GO:0043392	Process	Negative regulation of DNA binding	IDA	29802199
GO:0045087	Process	Innate immune response	IEA
GO:0050687	Process	Negative regulation of defense response to virus	IMP	29802199
GO:1900181	Process	Negative regulation of protein localization to nucleus	IMP	29802199

Other IDs

• MIM: 612217
• HGNC: 21215
• e!Ensembl: ENSG00000196821

Protein

• UniProt ID: Q9H6K1
• Protein name: Protein ILRUN (Inflammation and lipid regulator with UBA-like and NBR1-like domains protein)
• Protein function: Negative regulator of innate antiviral response. Blocks IRF3-dependent cytokine production such as IFNA, IFNB and TNF (PubMed:29802199). Interacts with IRF3 and inhibits IRF3 recruitment to type I IFN promoter sequences while also reducing nucle
• PDB: 6VHI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14555	UBA_4	25 → 68		Domain
  PF16158	N_BRCA1_IG	82 → 179	Ig-like domain from next to BRCA1 gene	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in lung (at protein level). {ECO:0000269|PubMed:25736925}.
• Sequence:

  MEGMDVDLDPELMQKFSCLGTTDKDVLISEFQRLLGFQLNPAGCAFFLDMTNWNLQAAIG
  AYYDFESPNISVPSMSFVEDVTIGEGESIPPDTQFVKTWRIQNSGAEAWPPGVCLKYVGG
  DQFGHVNMVMVRSLEPQEIADVSVQMCSPSRAGMYQGQWRMCTATGLYYGDVIWVILSVE
  VGGLLGVTQQLSSFETEFNTQPHRKVEGNFNPFASPQKNRQSDENNLKDPGGSEFDSISK
  NTWAPAPDTWAPAPDQTEQDQNRLSQNSVNLSPSSHANNLSVVTYSKGLHGPYPFGQS

• Sequence length: 298

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHAGAS CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	25953261, 30311108		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25953261	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25953261	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	25953261	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25736925		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas Cardiomyopathy	GWASCAT_DG	24324551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	GWASCAT_DG	28165464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	37964352	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38035073	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	25953261		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25736925	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	23273568		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25736925	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25953261	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25953261, 30311108		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25736925		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30311108		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25953261, 30311108		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30311108		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25736925		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30677029	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30311108		★☆☆☆☆ Found in Text Mining only
Small Lymphocytic Lymphoma	Lymphocytic Leukemia	GWASCAT_DG	28165464		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25953261		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25953261	Associate	★☆☆☆☆ Found in Text Mining only