IRAK1BP1

Chr 6

interleukin 1 receptor associated kinase 1 binding protein 1

Also known as: AIP70, SIMPL

NCBI Gene: 134728 ENSG00000146243 UniProt: Q5VVH5 OMIM: 615375

The protein acts as a signaling adaptor that enhances NF-kappaB transcriptional activity and is required for cell survival through the TNFRSF1A pathway. Mutations cause autosomal recessive immunodeficiency, with patients presenting in infancy with severe bacterial and viral infections. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable signaling adaptor activity. Predicted to be involved in positive regulation of canonical NF-kappaB signal transduction. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.40

LOEUF

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Mechanism