Gene Gene information from NCBI Gene database.
Entrez ID 134728
Gene name Interleukin 1 receptor associated kinase 1 binding protein 1
Gene symbol IRAK1BP1
Synonyms (NCBI Gene)
AIP70SIMPL
Chromosome 6
Chromosome location 6q14.1
miRNA miRNA information provided by mirtarbase database.
103
miRTarBase ID miRNA Experiments Reference
MIRT689153 hsa-miR-508-5p HITS-CLIP 23313552
MIRT689152 hsa-miR-1273g-3p HITS-CLIP 23313552
MIRT689151 hsa-miR-6849-3p HITS-CLIP 23313552
MIRT689150 hsa-miR-939-3p HITS-CLIP 23313552
MIRT689149 hsa-miR-766-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0006955 Process Immune response IEA
GO:0035591 Function Signaling adaptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615375 17368 ENSG00000146243
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VVH5
Protein name Interleukin-1 receptor-associated kinase 1-binding protein 1 (IRAK1-binding protein 1)
Protein function Component of the IRAK1-dependent TNFRSF1A signaling pathway that leads to NF-kappa-B activation and is required for cell survival. Acts by enhancing RELA transcriptional activity (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04402 SIMPL 53 253 Protein of unknown function (DUF541) Family
Sequence
Sequence length 260
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal fear/anxiety-related behavior Behavioral abnormality CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 17079333 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES Developmental Delay, Intellectual Disability, Obesity, And Dysmorphic Features CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 17079333 Associate
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 24165912 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation Mental retardation CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Neonatal Hypotonia Hypotonia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Obsessive compulsive behavior Obsessive-Compulsive Disorder CLINVAR_DG
★☆☆☆☆
Found in Text Mining only