RIPK1

Chr 6

receptor interacting serine/threonine kinase 1

Also known as: AIEFL, IMD57, RIP, RIP-1, RIP1

NCBI Gene: 8737 ENSG00000137275 UniProt: Q13546

The protein is a serine-threonine kinase that regulates TNF-mediated cell death pathways (apoptosis and necroptosis) and inflammatory signaling, functioning both as an enzyme and scaffold protein in cellular survival and immune responses. Mutations cause autoinflammation with episodic fever and lymphadenopathy or immunodeficiency with autoinflammation, following either autosomal dominant or autosomal recessive inheritance patterns. The gene shows high constraint against loss-of-function variants (LOEUF 0.554), reflecting its essential role in development and immune regulation.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue damage, pathogen recognition, and as part of developmental regulation. RIPK1/RIPK3 kinase-mediated necrosis is referred to as necroptosis. Genetic disruption of this gene in mice results in death shortly after birth. [provided by RefSeq, Aug 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 57 with autoinflammation

UniProtAutoinflammation with episodic fever and lymphadenopathy

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency 57 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

709

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.55

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)