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 re... See more...

Aliases for RIPK1 Gene

Aliases for RIPK1 Gene

  • Receptor Interacting Serine/Threonine Kinase 1 2 3 5
  • RIP 2 3 4
  • Receptor (TNFRSF)-Interacting Serine-Threonine Kinase 1 2 3
  • Receptor-Interacting Serine/Threonine-Protein Kinase 1 3 4
  • Receptor-Interacting Protein Kinase 1 2 3
  • Receptor-Interacting Protein 1 3 4
  • Cell Death Protein RIP 3 4
  • RIP-1 3 4
  • RIP1 3 4
  • Serine/Threonine-Protein Kinase RIP 3
  • EC 2.7.11.1 4
  • AIEFL 3
  • IMD57 3
  • RIPK1 5

External Ids for RIPK1 Gene

Previous GeneCards Identifiers for RIPK1 Gene

  • GC06P003062
  • GC06P003022
  • GC06P002949

Summaries for RIPK1 Gene

Entrez Gene Summary for RIPK1 Gene

  • 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]

GeneCards Summary for RIPK1 Gene

RIPK1 (Receptor Interacting Serine/Threonine Kinase 1) is a Protein Coding gene. Diseases associated with RIPK1 include Immunodeficiency 57 With Autoinflammation and Autoinflammation With Episodic Fever And Lymphadenopathy. Among its related pathways are Apoptosis Modulation and Signaling and Neuroscience. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is MAP3K9.

UniProtKB/Swiss-Prot Summary for RIPK1 Gene

  • Serine-threonine kinase which is a key regulator of TNF-mediated apoptosis, necroptosis and inflammatory pathways (PubMed:25459879, PubMed:31827281, PubMed:31827280). Exhibits kinase activity-dependent functions that trigger cell death and kinase-independent scaffold functions regulating inflammatory signaling and cell survival (PubMed:11101870, PubMed:25459879). Initiates ripoptocide which describes cell death that is dependent on RIPK1, be it apoptosis or necroptosis (PubMed:31457011). Upon binding of TNF to TNFR1, RIPK1 is recruited to the TNF-R1 signaling complex (TNF-RSC also known as complex I) where it acts as a scaffold protein promoting cell survival, in part, by activating the canonical NF-kB pathway (By similarity). Specific conditions can however activate RIPK1, and its kinase activity then regulates assembly of two death-inducing complexes, namely complex IIa (RIPK1-FADD-CASP8) and the complex IIb (RIPK1-RIPK3-MLKL) and these complexes respectively drive apoptosis or necroptosis, a regulated form of necrosis (PubMed:19524513, PubMed:19524512, PubMed:29440439, PubMed:30988283). Also involved in inflammatory response by promoting transcriptional production of pro-inflammatory cytokines, such as interleukin-6 (IL6) (PubMed:31827281, PubMed:31827280). During embryonic development suppresses apoptosis and necroptosis and prevents the interaction of TRADD with FADD thereby limiting aberrant activation of CASP8 (By similarity). Phosphorylates DAB2IP at 'Ser-728' in a TNF-alpha-dependent manner, and thereby activates the MAP3K5-JNK apoptotic cascade (PubMed:17389591). Required for ZBP1-induced NF-kappa-B activation and activation of NF-kappa-B by DNA damage and IR (By similarity).

Gene Wiki entry for RIPK1 Gene

Additional gene information for RIPK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIPK1 Gene

Genomics for RIPK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RIPK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIPK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIPK1

Top Transcription factor binding sites by QIAGEN in the RIPK1 gene promoter:
  • Arnt
  • CUTL1
  • Evi-1
  • GR
  • GR-alpha
  • N-Myc
  • NF-kappaB1
  • p53
  • Pax-6

Genomic Locations for RIPK1 Gene

Genomic Locations for RIPK1 Gene
chr6:3,063,967-3,115,187
(GRCh38/hg38)
Size:
51,221 bases
Orientation:
Plus strand
chr6:3,064,225-3,115,421
(GRCh37/hg19)
Size:
51,197 bases
Orientation:
Plus strand

Genomic View for RIPK1 Gene

Genes around RIPK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIPK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIPK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIPK1 Gene

Proteins for RIPK1 Gene

  • Protein details for RIPK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13546-RIPK1_HUMAN
    Recommended name:
    Receptor-interacting serine/threonine-protein kinase 1
    Protein Accession:
    Q13546
    Secondary Accessions:
    • A0AV89
    • B2RAG1
    • B4E3F9
    • Q13180
    • Q59H33

    Protein attributes for RIPK1 Gene

    Size:
    671 amino acids
    Molecular mass:
    75931 Da
    Quaternary structure:
    • Homodimer (PubMed:29440439). Interacts (via RIP homotypic interaction motif) with RIPK3 (via RIP homotypic interaction motif); this interaction induces RIPK1 phosphorylation and formation of a RIPK1-RIPK3 necroptosis-inducing complex (PubMed:11734559, PubMed:29883609, PubMed:19524512, PubMed:10358032). Upon TNF-induced necrosis, the RIPK1-RIPK3 dimer further interacts with PGAM5 and MLKL; the formation of this complex leads to PGAM5 phosphorylation and increase in PGAM5 phosphatase activity (PubMed:22265414). Interacts (via the death domain) with TNFRSF6 (via the death domain) and TRADD (via the death domain) (PubMed:8612133). Is recruited by TRADD to TNFRSF1A in a TNF-dependent process (PubMed:24130170). Binds RNF216, EGFR, IKBKG, TRAF1, TRAF2 and TRAF3 (PubMed:8612133, PubMed:9927690, PubMed:11854271, PubMed:11116146). Interacts with BNLF1 (PubMed:10409763). Interacts with SQSTM1 upon TNF-alpha stimulation (PubMed:10356400). May interact with MAVS/IPS1 (PubMed:16127453). Interacts with ZFAND5 (PubMed:14754897). Interacts with RBCK1 (PubMed:17449468). Interacts with ZBP1 (By similarity). Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4 (PubMed:21931591). Interacts (via kinase domain) with DAB2IP (via Ras-GAP domain); the interaction occurs in a TNF-alpha-dependent manner (PubMed:17389591). Interacts with ARHGEF2 (PubMed:21887730). Interacts (via protein kinase domain) with RFFL; involved in RIPK1 ubiquitination (PubMed:18450452). Interacts with RNF34; involved in RIPK1 ubiquitination (Ref.33). Interacts with TICAM1 and this interaction is enhanced in the presence of WDFY1 (PubMed:25736436). Interacts with PELI1 (PubMed:29883609). Interacts (via death domain) with CRADD (via death domain); the interaction is direct (PubMed:9044836). Component of complex IIa composed of at least RIPK1, FADD and CASP8 (By similarity). Interacts with MAP3K7, CFLAR, CASP8, FADD and NEMO (By similarity).
    • (Microbial infection) Interacts with mumps virus protein SH; this interaction inhibits downstream NF-kappa-B pathway activation.
    • (Microbial infection) Interacts with Murid herpesvirus 1 protein RIR1.
    SequenceCaution:
    • Sequence=BAG65471.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RIPK1 Gene

    Alternative splice isoforms for RIPK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIPK1 Gene

Post-translational modifications for RIPK1 Gene

  • Proteolytically cleaved by CASP8 at Asp-324 (PubMed:10521396, PubMed:31827281, PubMed:31827280). Cleavage is crucial for limiting TNF-induced apoptosis, necroptosis and inflammatory response (PubMed:31827281, PubMed:31827280). Cleavage abolishes NF-kappa-B activation and enhances the interaction of TRADD with FADD (PubMed:10521396).
  • RIPK1 and RIPK3 undergo reciprocal auto- and trans-phosphorylation (PubMed:18408713, PubMed:19524513, PubMed:31827280). Phosphorylation of Ser-161 by RIPK3 is necessary for the formation of the necroptosis-inducing complex (PubMed:18408713). Phosphorylation at Ser-25 represses its kinase activity and consequently prevents TNF-mediated RIPK1-dependent cell death (PubMed:30988283). Phosphorylated at Ser-320 by MAP3K7 which requires prior ubiquitination with 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2 (By similarity). This phosphorylation positively regulates RIPK1 interaction with RIPK3 to promote necroptosis but negatively regulates RIPK1 kinase activity and its interaction with FADD to mediate apoptosis (By similarity).
  • Ubiquitinated with 'Lys-11'-, 'Lys-48'-, 'Lys-63'- and linear-linked type ubiquitin (PubMed:15258597, PubMed:16603398, PubMed:18450452, PubMed:21455173, PubMed:21931591, PubMed:29883609, Ref.33). Polyubiquitination with 'Lys-63'-linked chains by TRAF2 induces association with the IKK complex (PubMed:15258597). Deubiquitination of 'Lys-63'-linked chains and polyubiquitination with 'Lys-48'-linked chains by TNFAIP3 leads to RIPK1 proteasomal degradation and consequently down-regulates TNF-alpha-induced NFkappa-B signaling (PubMed:15258597). 'Lys-48'-linked polyubiquitination by RFFL or RNF34 also promotes proteasomal degradation and negatively regulates TNF-alpha-induced NF-kappa-B signaling (PubMed:18450452, Ref.33). Linear polyubiquitinated; the head-to-tail linear polyubiquitination ('Met-1'-linked) is mediated by the LUBAC complex and decreases protein kinase activity (PubMed:21455173). Deubiquitination of linear polyubiquitin by CYLD promotes the kinase activity (By similarity). Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B (PubMed:21931591). Ubiquitinated with 'Lys-63'-linked chains by PELI1 (PubMed:29883609). Ubiquitination at Lys-377 with 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2 is essential for its phosphorylation at Ser-320 mediated by MAP3K7 (By similarity). This ubiquitination is required for NF-kB activation, suppresses RIPK1 kinase activity and plays a critical role in preventing cell death during embryonic development (By similarity).
  • Ubiquitination at Lys377
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for RIPK1
  • Santa Cruz Biotechnology (SCBT) Antibodies for RIPK1

No data available for DME Specific Peptides for RIPK1 Gene

Domains & Families for RIPK1 Gene

Gene Families for RIPK1 Gene

Suggested Antigen Peptide Sequences for RIPK1 Gene

GenScript: Design optimal peptide antigens:
  • Serine/threonine-protein kinase RIP (RIPK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13546

UniProtKB/Swiss-Prot:

RIPK1_HUMAN :
  • The death domain mediates dimerization and activation of its kinase activity during necroptosis and apoptosis (PubMed:29440439). It engages other DD-containing proteins as well as a central (intermediate) region important for NF-kB activation and RHIM-dependent signaling (PubMed:10356400).
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
Domain:
  • The death domain mediates dimerization and activation of its kinase activity during necroptosis and apoptosis (PubMed:29440439). It engages other DD-containing proteins as well as a central (intermediate) region important for NF-kB activation and RHIM-dependent signaling (PubMed:10356400).
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
genes like me logo Genes that share domains with RIPK1: view

Function for RIPK1 Gene

Molecular function for RIPK1 Gene

UniProtKB/Swiss-Prot Function:
Serine-threonine kinase which is a key regulator of TNF-mediated apoptosis, necroptosis and inflammatory pathways (PubMed:25459879, PubMed:31827281, PubMed:31827280). Exhibits kinase activity-dependent functions that trigger cell death and kinase-independent scaffold functions regulating inflammatory signaling and cell survival (PubMed:11101870, PubMed:25459879). Initiates ripoptocide which describes cell death that is dependent on RIPK1, be it apoptosis or necroptosis (PubMed:31457011). Upon binding of TNF to TNFR1, RIPK1 is recruited to the TNF-R1 signaling complex (TNF-RSC also known as complex I) where it acts as a scaffold protein promoting cell survival, in part, by activating the canonical NF-kB pathway (By similarity). Specific conditions can however activate RIPK1, and its kinase activity then regulates assembly of two death-inducing complexes, namely complex IIa (RIPK1-FADD-CASP8) and the complex IIb (RIPK1-RIPK3-MLKL) and these complexes respectively drive apoptosis or necroptosis, a regulated form of necrosis (PubMed:19524513, PubMed:19524512, PubMed:29440439, PubMed:30988283). Also involved in inflammatory response by promoting transcriptional production of pro-inflammatory cytokines, such as interleukin-6 (IL6) (PubMed:31827281, PubMed:31827280). During embryonic development suppresses apoptosis and necroptosis and prevents the interaction of TRADD with FADD thereby limiting aberrant activation of CASP8 (By similarity). Phosphorylates DAB2IP at 'Ser-728' in a TNF-alpha-dependent manner, and thereby activates the MAP3K5-JNK apoptotic cascade (PubMed:17389591). Required for ZBP1-induced NF-kappa-B activation and activation of NF-kappa-B by DNA damage and IR (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:23473668, ECO:0000269|PubMed:30988283, ECO:0000269|PubMed:31827280, ECO:0000269|PubMed:8612133};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:23473668, ECO:0000269|PubMed:30988283, ECO:0000269|PubMed:31827280, ECO:0000269|PubMed:8612133};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Serine-threonine kinase activity is inhibited by linear polyubiquitination ('Met-1'-linked) by the LUBAC complex (By similarity). Inhibited by necrostatins, including necrostatin-1, necrostatin-3 and necrostatin-4 (PubMed:23473668).
GENATLAS Biochemistry:
receptor interacting serine-threonine kinase 1,expressed in brain,small intestine,testis,interacting weakly with TNFRSF1A,associating with the intracellular domain of TNFRSF6 (CD95,FAS)

Enzyme Numbers (IUBMB) for RIPK1 Gene

Phenotypes From GWAS Catalog for RIPK1 Gene

Gene Ontology (GO) - Molecular Function for RIPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IMP 22817896
GO:0004674 protein serine/threonine kinase activity IMP 30988283
GO:0004706 JUN kinase kinase kinase activity IBA 21873635
GO:0005123 death receptor binding IPI 7538908
genes like me logo Genes that share ontologies with RIPK1: view
genes like me logo Genes that share phenotypes with RIPK1: view

Human Phenotype Ontology for RIPK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RIPK1 Gene

MGI Knock Outs for RIPK1:

Animal Model Products

CRISPR Products

miRNA for RIPK1 Gene

miRTarBase miRNAs that target RIPK1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIPK1

No data available for Transcription Factor Targets and HOMER Transcription for RIPK1 Gene

Localization for RIPK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIPK1 Gene

Cytoplasm. Cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIPK1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
cytosol 5
nucleus 4
endosome 4
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RIPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 16507998
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with RIPK1: view

Pathways & Interactions for RIPK1 Gene

PathCards logo

SuperPathways for RIPK1 Gene

SuperPathway Contained pathways
1 TNFR1 Pathway
.87
.87
.56
.55
.52
.42
.42
2 CASP8 activity is inhibited
3 Activated TLR4 signalling
4 TNF signaling
5 Apoptosis Modulation and Signaling
.41
.35
.31
genes like me logo Genes that share pathways with RIPK1: view

Pathways by source for RIPK1 Gene

3 Sino Biological pathways for RIPK1 Gene
10 GeneGo (Thomson Reuters) pathways for RIPK1 Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
  • Apoptosis and survival Apoptotic TNF-family pathways
  • Apoptosis and survival Caspase cascade
  • Apoptosis and survival FAS signaling cascades
17 Qiagen pathways for RIPK1 Gene
  • Apoptosis through Death Receptors
  • Apoptotic Pathways Triggered By HIV1
  • Cellular Apoptosis Pathway
  • Ceramide Pathway
  • DR3 Signaling
3 Cell Signaling Technology pathways for RIPK1 Gene
2 GeneTex pathways for RIPK1 Gene

SIGNOR curated interactions for RIPK1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RIPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IMP 17389591
GO:0002756 MyD88-independent toll-like receptor signaling pathway TAS --
GO:0006468 protein phosphorylation IEA --
GO:0006915 apoptotic process IMP 21737330
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS --
genes like me logo Genes that share ontologies with RIPK1: view

Drugs & Compounds for RIPK1 Gene

(11) Drugs for RIPK1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0
Necrostatin-1 Pharma RIP1 inhibitor, RIPK1 inhibitor; inhibits necroptosis 0

(7) Additional Compounds for RIPK1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0

(1) ApexBio Compounds for RIPK1 Gene

Compound Action Cas Number
Necrostatin-1 RIP1 inhibitor 4311-88-0
genes like me logo Genes that share compounds with RIPK1: view

Drug Products

Transcripts for RIPK1 Gene

mRNA/cDNA for RIPK1 Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIPK1

Alternative Splicing Database (ASD) splice patterns (SP) for RIPK1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for RIPK1 Gene

GeneLoc Exon Structure for
RIPK1

Expression for RIPK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIPK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RIPK1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.0) and Plasma (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RIPK1 Gene



Protein tissue co-expression partners for RIPK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIPK1

SOURCE GeneReport for Unigene cluster for RIPK1 Gene:

Hs.519842

Evidence on tissue expression from TISSUES for RIPK1 Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Heart(4.6)
  • Adrenal gland(4.3)
  • Spleen(3)
  • Intestine(3)
  • Kidney(3)
  • Blood(3)
  • Skin(2.8)
  • Lymph node(2.7)
  • Lung(2.7)
  • Bone marrow(2.5)
  • Muscle(2.5)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with RIPK1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIPK1 Gene

Orthologs for RIPK1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RIPK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RIPK1 30 31
  • 99.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RIPK1 30 31
  • 84.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RIPK1 30 31
  • 79.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ripk1 30 17 31
  • 79.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ripk1 30
  • 79.08 (n)
Oppossum
(Monodelphis domestica)
Mammalia RIPK1 31
  • 59 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RIPK1 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RIPK1 30 31
  • 60.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RIPK1 31
  • 47 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ripk1 30
  • 56 (n)
Zebrafish
(Danio rerio)
Actinopterygii ripk1l 30 31
  • 51.71 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
OneToOne
Species where no ortholog for RIPK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RIPK1 Gene

ENSEMBL:
Gene Tree for RIPK1 (if available)
TreeFam:
Gene Tree for RIPK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RIPK1: view image

Paralogs for RIPK1 Gene

genes like me logo Genes that share paralogs with RIPK1: view

Variants for RIPK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIPK1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
561164 Pathogenic: Immunodeficiency 57 3,089,604(+) TTTTA/T NONSENSE
561165 Pathogenic: Immunodeficiency 57 3,083,312(+) AAGTAAGGCATTACTT SPLICE_DONOR_VARIANT
561166 Pathogenic: Immunodeficiency 57 3,082,950(+) GAACCTGCCCAGTGCA SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT,INITIATIOR_CODON_VARIANT
712317 Benign: not provided 3,113,258(+) G/A SYNONYMOUS_VARIANT
809859 Uncertain Significance: not provided 3,076,950(+) A/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for RIPK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RIPK1 Gene

Variant ID Type Subtype PubMed ID
esv1036383 CNV deletion 17803354
esv23861 CNV loss 19812545
esv25797 CNV gain 19812545
nsv1126743 CNV deletion 24896259
nsv600834 CNV loss 21841781
nsv950762 CNV deletion 24416366

Variation tolerance for RIPK1 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 30.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIPK1 Gene

Human Gene Mutation Database (HGMD)
RIPK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIPK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIPK1 Gene

Disorders for RIPK1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for RIPK1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

RIPK1_HUMAN
  • Immunodeficiency 57 (IMD57) [MIM:618108]: An autosomal recessive primary immunodeficiency characterized by lymphopenia and recurrent viral, bacterial, and fungal infections. Patients exhibit early-onset inflammatory bowel disease involving the upper and lower gastrointestinal tract, and develop progressive polyarthritis. {ECO:0000269 PubMed:30026316}. Note=The disease is caused by mutations affecting the gene represented in this entry. RIPK1-deficient immune cells from IMD57 patients have impaired proinflammatory signaling leading to dysregulated cytokine secretion and are prone to necroptosis. {ECO:0000269 PubMed:30026316}.
  • Note=Defects in RIPK1 are the cause of cleavage-resistant RIPK1-induced autoinflammatory syndrome (CRIA), an autosomal dominant syndrome characterized by fevers and pronounced lymphadenopathy beginning in early childhood and continuing throughout adulthood (PubMed:31827281, PubMed:31827280). Patients experience fevers occurring approximately every 2-4 weeks, lasting 1-7 days, and reaching temperatures as high as 40-41 degrees Celsius (PubMed:31827281, PubMed:31827280). In contrast to more severe autoinflammatory disorders, no signs of rash, arthritis, genital ulcers or end-stage organ damage are observed, and the conditions are not threatening life of the patients (PubMed:31827281, PubMed:31827280). The disease is caused by mutations affecting the gene represented in this entry (PubMed:31827281, PubMed:31827280). Defects are caused by strong RIPK1-dependent activation of inflammatory signaling pathways and overproduction of inflammatory cytokines and chemokines, such as interleukin-6 (IL6) and TNF (PubMed:31827281, PubMed:31827280). {ECO:0000269 PubMed:31827280, ECO:0000269 PubMed:31827281}.

Additional Disease Information for RIPK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RIPK1: view

No data available for Genatlas for RIPK1 Gene

Publications for RIPK1 Gene

  1. TNF-dependent recruitment of the protein kinase RIP to the TNF receptor-1 signaling complex. (PMID: 8612133) Hsu H … Goeddel DV (Immunity 1996) 2 3 4 23
  2. CARP-2 is an endosome-associated ubiquitin ligase for RIP and regulates TNF-induced NF-kappaB activation. (PMID: 18450452) Liao W … Srinivasula SM (Current biology : CB 2008) 3 4 23
  3. Genetic variation in tumor necrosis factor and the nuclear factor-kappaB canonical pathway and risk of non-Hodgkin's lymphoma. (PMID: 18990758) Cerhan JR … Slager SL (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 23 41
  4. RBCK1 negatively regulates tumor necrosis factor- and interleukin-1-triggered NF-kappaB activation by targeting TAB2/3 for degradation. (PMID: 17449468) Tian Y … Shu HB (The Journal of biological chemistry 2007) 3 4 23
  5. Identification of a novel homotypic interaction motif required for the phosphorylation of receptor-interacting protein (RIP) by RIP3. (PMID: 11734559) Sun X … Dixit VM (The Journal of biological chemistry 2002) 3 4 23

Products for RIPK1 Gene

  • Addgene plasmids for RIPK1