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    RIPK1 receptor interacting serine/threonine kinase 1 [ Homo sapiens (human) ]

    Gene ID: 8737, updated on 5-Mar-2024

    Summary

    Official Symbol
    RIPK1provided by HGNC
    Official Full Name
    receptor interacting serine/threonine kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:10019
    See related
    Ensembl:ENSG00000137275 MIM:603453; AllianceGenome:HGNC:10019
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RIP; RIP1; AIEFL; IMD57; RIP-1
    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]
    Expression
    Ubiquitous expression in gall bladder (RPKM 7.8), colon (RPKM 7.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    6p25.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3063967..3115187)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (2932866..2983225)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3064201..3115421)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr6:3051320-3051459 Neighboring gene serpin family B member 8 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16840 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:3054769-3055561 Neighboring gene uncharacterized LOC124901242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3073895-3074394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3077589-3078563 Neighboring gene RNA, 5S ribosomal pseudogene 201 Neighboring gene uncharacterized LOC107986556 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3118179-3118814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16845 Neighboring gene biphenyl hydrolase like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3133721-3134377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23883 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:3148774-3148935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16846 Neighboring gene tubulin beta 2A class IIa

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autoinflammation with episodic fever and lymphadenopathy
    MedGen: C5394286 OMIM: 618852 GeneReviews: Not available
    Compare labs
    Immunodeficiency 57
    MedGen: C4748212 OMIM: 618108 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of preschool internalizing problems.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr Overexpression of RIPK1 is induced by HIV-1 Vpr in the transfected 293T cells PubMed
    retropepsin gag-pol PR cleavage of RIPK1 disrupts RIPK1 function PubMed
    gag-pol Majority of RIPK1 cleavage occurs due to post-integration expression of proviral genes (not by virion delivered PR) and is completely inhibited with the addiition of Saquinavir (PR inhibitor) PubMed
    gag-pol HIV-1 PR (WT, not D25N) cleaves endogeneously expressed (and over-expressed) RIPK1 with high specificity (RIPK1 amino acids L462-Y463) PubMed
    gag-pol HIV-1 PR (D25N) binds RIPK1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ39204

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables JUN kinase kinase kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables death domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables death receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in amyloid fibril formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hydrogen peroxide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to tumor necrosis factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in necroptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in necroptotic process TAS
    Traceable Author Statement
    more info
     
    involved_in necroptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in necroptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of necroptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-serine autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-serine autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of execution phase of apoptosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-6-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-8 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of macrophage differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of positive regulation of miRNA processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of programmed cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of programmed necrotic cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of reactive oxygen species metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in programmed necrotic cell death ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of ATP:ADP antiporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to tumor necrosis factor IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ripoptosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ripoptosome assembly involved in necroptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tumor necrosis factor-mediated signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of death-inducing signaling complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ripoptosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    receptor-interacting serine/threonine-protein kinase 1
    Names
    cell death protein RIP
    receptor (TNFRSF)-interacting serine-threonine kinase 1
    receptor-interacting protein 1
    receptor-interacting protein kinase 1
    serine/threonine-protein kinase RIP
    NP_001303990.1
    NP_001341859.1
    NP_001341860.1
    NP_001341861.1
    NP_001341862.1
    NP_001341863.1
    NP_003795.2
    XP_006715300.2
    XP_016866892.1
    XP_016866893.1
    XP_016866894.1
    XP_047275401.1
    XP_047275402.1
    XP_047275403.1
    XP_047275404.1
    XP_054212622.1
    XP_054212623.1
    XP_054212624.1
    XP_054212625.1
    XP_054212626.1
    XP_054212627.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_063914.1 RefSeqGene

      Range
      9654..56347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317061.3NP_001303990.1  receptor-interacting serine/threonine-protein kinase 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AB208926, AJ420482, AK314176, AL031963
      Conserved Domains (2) summary
      cd08777
      Location:420505
      Death_RIP1; Death Domain of Receptor-Interacting Protein 1
      cl21453
      Location:1127
      PKc_like; Protein Kinases, catalytic domain
    2. NM_001354930.2NP_001341859.1  receptor-interacting serine/threonine-protein kinase 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL031963
      Consensus CDS
      CCDS4482.1
      UniProtKB/Swiss-Prot
      A0AV89, B2RAG1, B4E3F9, Q13180, Q13546, Q59H33
      Related
      ENSP00000259808.3, ENST00000259808.9
      Conserved Domains (2) summary
      cd08777
      Location:583668
      Death_RIP1; Death Domain of Receptor-Interacting Protein 1
      cd14027
      Location:23290
      STKc_RIP1; Catalytic domain of the Serine/Threonine kinase, Receptor Interacting Protein 1
    3. NM_001354931.2NP_001341860.1  receptor-interacting serine/threonine-protein kinase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL031963
      Consensus CDS
      CCDS93851.1
      Related
      ENSP00000369773.3, ENST00000380409.3
      Conserved Domains (2) summary
      cd08777
      Location:537622
      Death_RIP1; Death Domain of Receptor-Interacting Protein 1
      cl21453
      Location:23244
      PKc_like; Protein Kinases, catalytic domain
    4. NM_001354932.2NP_001341861.1  receptor-interacting serine/threonine-protein kinase 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL031963
      Conserved Domains (2) summary
      cd08777
      Location:420505
      Death_RIP1; Death Domain of Receptor-Interacting Protein 1
      cl21453
      Location:1127
      PKc_like; Protein Kinases, catalytic domain
    5. NM_001354933.2NP_001341862.1  receptor-interacting serine/threonine-protein kinase 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL031963
      Conserved Domains (2) summary
      cd08777
      Location:420505
      Death_RIP1; Death Domain of Receptor-Interacting Protein 1
      cl21453
      Location:1127
      PKc_like; Protein Kinases, catalytic domain
    6. NM_001354934.2NP_001341863.1  receptor-interacting serine/threonine-protein kinase 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL031963
      Conserved Domains (2) summary
      cd08777
      Location:420505
      Death_RIP1; Death Domain of Receptor-Interacting Protein 1
      cl21453
      Location:1127
      PKc_like; Protein Kinases, catalytic domain
    7. NM_003804.6NP_003795.2  receptor-interacting serine/threonine-protein kinase 1 isoform 1

      See identical proteins and their annotated locations for NP_003795.2

      Status: REVIEWED

      Source sequence(s)
      AB208926, AJ420482, AK314176, AL031963, U50062
      Consensus CDS
      CCDS4482.1
      UniProtKB/Swiss-Prot
      A0AV89, B2RAG1, B4E3F9, Q13180, Q13546, Q59H33
      Related
      ENST00000676758.1
      Conserved Domains (2) summary
      cd08777
      Location:583668
      Death_RIP1; Death Domain of Receptor-Interacting Protein 1
      cd14027
      Location:23290
      STKc_RIP1; Catalytic domain of the Serine/Threonine kinase, Receptor Interacting Protein 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      3063967..3115187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419447.1XP_047275403.1  receptor-interacting serine/threonine-protein kinase 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AV89, B2RAG1, B4E3F9, Q13180, Q13546, Q59H33
    2. XM_047419448.1XP_047275404.1  receptor-interacting serine/threonine-protein kinase 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AV89, B2RAG1, B4E3F9, Q13180, Q13546, Q59H33
    3. XM_017011405.2XP_016866894.1  receptor-interacting serine/threonine-protein kinase 1 isoform X2

      Related
      ENST00000676995.1
      Conserved Domains (2) summary
      smart00221
      Location:22285
      STYKc; Protein kinase; unclassified specificity
      cd14027
      Location:23290
      STKc_RIP1; Catalytic domain of the Serine/Threonine kinase, Receptor Interacting Protein 1
    4. XM_006715237.4XP_006715300.2  receptor-interacting serine/threonine-protein kinase 1 isoform X2

      Conserved Domains (2) summary
      smart00221
      Location:22285
      STYKc; Protein kinase; unclassified specificity
      cd14027
      Location:23290
      STKc_RIP1; Catalytic domain of the Serine/Threonine kinase, Receptor Interacting Protein 1
    5. XM_047419445.1XP_047275401.1  receptor-interacting serine/threonine-protein kinase 1 isoform X5

    6. XM_047419446.1XP_047275402.1  receptor-interacting serine/threonine-protein kinase 1 isoform X5

    7. XM_017011403.2XP_016866892.1  receptor-interacting serine/threonine-protein kinase 1 isoform X3

      Conserved Domains (2) summary
      cd08777
      Location:420505
      Death_RIP1; Death Domain of Receptor-Interacting Protein 1
      cl21453
      Location:1127
      PKc_like; Protein Kinases, catalytic domain
    8. XM_017011404.3XP_016866893.1  receptor-interacting serine/threonine-protein kinase 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      2932866..2983225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356647.1XP_054212622.1  receptor-interacting serine/threonine-protein kinase 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AV89, B2RAG1, B4E3F9, Q13180, Q13546, Q59H33
    2. XM_054356652.1XP_054212627.1  receptor-interacting serine/threonine-protein kinase 1 isoform X2

    3. XM_054356648.1XP_054212623.1  receptor-interacting serine/threonine-protein kinase 1 isoform X2

    4. XM_054356650.1XP_054212625.1  receptor-interacting serine/threonine-protein kinase 1 isoform X6

    5. XM_054356649.1XP_054212624.1  receptor-interacting serine/threonine-protein kinase 1 isoform X3

    6. XM_054356651.1XP_054212626.1  receptor-interacting serine/threonine-protein kinase 1 isoform X4