RIPK1 receptor interacting serine/threonine kinase 1
Gene ID: 8737, updated on 5-Mar-2024Gene type: protein coding
Also known as: RIP; RIP1; AIEFL; IMD57; RIP-1
- See all available tests in GTR for this gene
- Go to complete Gene record for RIPK1
- Go to Variation Viewer for RIPK1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of preschool internalizing problems. GeneReviews: Not available | |
| Autoinflammation with episodic fever and lymphadenopathy | See labs |
| Immunodeficiency 57 | See labs |
Genomic context
- Location:
- 6p25.2
- Sequence:
- Chromosome: 6; NC_000006.12 (3063967..3115187)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RIPK1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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