Gene Gene information from NCBI Gene database.
Entrez ID 54472
Gene name Toll interacting protein
Gene symbol TOLLIP
Synonyms (NCBI Gene)
IL-1RAcPIP
Chromosome 11
Chromosome location 11p15.5
Summary This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover
miRNA miRNA information provided by mirtarbase database.
353
miRTarBase ID miRNA Experiments Reference
MIRT020158 hsa-miR-130b-3p Sequencing 20371350
MIRT028044 hsa-miR-93-5p Sequencing 20371350
MIRT041248 hsa-miR-193b-3p CLASH 23622248
MIRT439404 hsa-miR-205-5p HITS-CLIP 22473208
MIRT439404 hsa-miR-205-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005150 Function Interleukin-1, type I receptor binding IEA
GO:0005515 Function Protein binding IPI 11397809, 14563850, 15047686, 16189514, 16412388, 16713569, 19060904, 19447967, 20936779, 21903422, 21988832, 25042851, 25416956, 25910212, 26320582, 31263572, 31515488, 32296183, 32814053, 33961781, 34524948, 35271311
GO:0005576 Component Extracellular region TAS
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606277 16476 ENSG00000078902
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0E2
Protein name Toll-interacting protein
Protein function Component of the signaling pathway of IL-1 and Toll-like receptors (PubMed:10854325, PubMed:11751856). Inhibits cell activation by microbial products. Recruits IRAK1 to the IL-1 receptor complex (PubMed:10854325). Inhibits IRAK1 phosphorylation
PDB 1WGL , 2N31
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 53 154 C2 domain Domain
PF02845 CUE 230 271 CUE domain Domain
Sequence
MATTVSTQRGPVYIGELPQDFLRITPTQQQRQVQLDAQAAQQLQYGGAVGTVGRLNITVV
QAKLAKNYGMTRMDPYCRLRLGYAVYETPTAHNGAKNPRWNKVIHCTVPPGVDSFYLEIF
DERAFSMDDRIAWTHITIPESLRQGKVEDKWYSL
SGRQGDDKEGMINLVMSYALLPAAMV
MPPQPVVLMPTVYQQGVGYVPITGMPAVCSPGMVPVALPPAAVNAQPRCSEEDLKAIQDM
FPNMDQEVIRSVLEAQRGNKDAAINSLLQMG
EEP
Sequence length 274
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Toll-like receptor signaling pathway   Neutrophil degranulation
Interleukin-1 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHRONIC OBSTRUCTIVE AIRWAY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic obstructive pulmonary disease association; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Combined pulmonary fibrosis-emphysema syndrome association; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Airway Obstruction Associate 35172835
★☆☆☆☆
Found in Text Mining only
Alveolitis Extrinsic Allergic Associate 38309995
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 23300433
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Associate 33993221
★☆☆☆☆
Found in Text Mining only
Asthma Associate 35172835, 36946148
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Associate 33420630
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 17855441, 35441740
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 36499030
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Inhibit 26462859
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Associate 29757592
★☆☆☆☆
Found in Text Mining only