Gene Gene information from NCBI Gene database.
Entrez ID 8737
Gene name Receptor interacting serine/threonine kinase 1
Gene symbol RIPK1
Synonyms (NCBI Gene)
AIEFLIMD57RIPRIP-1RIP1
Chromosome 6
Chromosome location 6p25.2
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 development
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1561772403 G>- Pathogenic, likely-pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
248
miRTarBase ID miRNA Experiments Reference
MIRT1307576 hsa-miR-1184 CLIP-seq
MIRT1307577 hsa-miR-1205 CLIP-seq
MIRT1307578 hsa-miR-1225-5p CLIP-seq
MIRT1307579 hsa-miR-1236 CLIP-seq
MIRT1307580 hsa-miR-125a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
124
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001934 Process Positive regulation of protein phosphorylation IMP 17389591
GO:0004672 Function Protein kinase activity IDA 15001576, 22265413
GO:0004672 Function Protein kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603453 10019 ENSG00000137275
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13546
Protein name Receptor-interacting serine/threonine-protein kinase 1 (EC 2.7.11.1) (Cell death protein RIP) (Receptor-interacting protein 1) (RIP-1)
Protein function Serine-threonine kinase which is a key regulator of TNF-mediated apoptosis, necroptosis and inflammatory pathways (PubMed:17703191, PubMed:24144979, PubMed:31827280, PubMed:31827281, PubMed:32657447, PubMed:35831301). Exhibits kinase activity-de
PDB 4ITH , 4ITI , 4ITJ , 4NEU , 5HX6 , 5TX5 , 5V7Z , 6AC5 , 6C3E , 6C4D , 6HHO , 6NW2 , 6NYH , 6OCQ , 6R5F , 6RLN , 7CJB , 7FCZ , 7FD0 , 7XMK , 7YDX , 8I2N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07714 PK_Tyr_Ser-Thr 18 285 Protein tyrosine and serine/threonine kinase Domain
PF12721 RHIM 504 549 RIP homotypic interaction motif Family
PF00531 Death 584 669 Death domain Domain
Sequence
MQPDMSLNVIKMKSSDFLESAELDSGGFGKVSLCFHRTQGLMIMKTVYKGPNCIEHNEAL
LEEAKMMNRLRHSRVVKLLGVIIEEGKYSLVMEYMEKGNLMHVLKAEMSTPLSVKGRIIL
EIIEGMCYLHGKGVIHKDLKPENILVDNDFHIKIADLGLASFKMWSKLNNEEHNELREVD
GTAKKNGGTLYYMAPEHLNDVNAKPTEKSDVYSFAVVLWAIFANKEPYENAICEQQLIMC
IKSGNRPDVDDITEYCPREIISLMKLCWEANPEARPTFPGIEEKF
RPFYLSQLEESVEED
VKSLKKEYSNENAVVKRMQSLQLDCVAVPSSRSNSATEQPGSLHSSQGLGMGPVEESWFA
PSLEHPQEENEPSLQSKLQDEANYHLYGSRMDRQTKQQPRQNVAYNREEERRRRVSHDPF
AQQRPYENFQNTEGKGTAYSSAASHGNAVHQPSGLTSQPQVLYQNNGLYSSHGFGTRPLD
PGTAGPRVWYRPIPSHMPSLHNIPVPETNYLGNTPTMPFSSLPPTDESIKYTIYNSTGIQ
IGAYNYMEI
GGTSSSLLDSTNTNFKEEPAAKYQAIFDNTTSLTDKHLDPIRENLGKHWKN
CARKLGFTQSQIDEIDHDYERDGLKEKVYQMLQKWVMREGIKGATVGKLAQALHQCSRID
LLSSLIYVS
QN
Sequence length 671
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
65
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autoinflammation with episodic fever and lymphadenopathy Pathogenic rs1760720617, rs1760720924 RCV001089772
RCV001089773
RCV001089774
RCV001089775
Hereditary breast ovarian cancer syndrome Pathogenic rs2113726155 RCV001374515
IL10-related early-onset inflammatory bowel disease Likely pathogenic; Pathogenic rs1561772403, rs374657927, rs1561780980, rs752183065 RCV000754605
RCV000754604
RCV000754606
RCV000754602
Immunodeficiency 57 Pathogenic; Likely pathogenic rs2113607375, rs1759915032, rs1759514836, rs1561772403 RCV003152783
RCV000680190
RCV000680191
RCV000985125
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RIPK1-related disorder Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs17548383, rs17548390, rs558445528, rs373199261, rs372626426, rs1310821227, rs114570616, rs2533381909, rs755615425, rs2533348665, rs2533150167, rs2533382708, rs114183703 RCV003948495
RCV003921113
RCV003403663
RCV003895844
RCV003951190
RCV004747264
RCV003898590
RCV003399665
RCV003392876
RCV003939069
RCV003982751
RCV003893914
RCV003920607
Uterine corpus endometrial carcinoma Likely benign rs781683197 RCV005921191
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 35588657
Adenocarcinoma Associate 37519036
Adenocarcinoma of Lung Associate 33985619, 35907206
Anal Gland Neoplasms Associate 36466854
Aortic Dissection Associate 35480868
Arthritis Associate 30026316
Arthritis Rheumatoid Stimulate 16951485
Breast Neoplasms Associate 30808745, 36976201
Calcinosis Cutis Inhibit 26992898
Carcinogenesis Associate 22674009