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    RIPK4 receptor interacting serine/threonine kinase 4 [ Homo sapiens (human) ]

    Gene ID: 54101, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RIPK4provided by HGNC
    Official Full Name
    receptor interacting serine/threonine kinase 4provided by HGNC
    Primary source
    HGNC:HGNC:496
    See related
    Ensembl:ENSG00000183421 MIM:605706; AllianceGenome:HGNC:496
    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
    DIK; PKK; PPS2; RIP4; ANKK2; NKRD3; ANKRD3; CHANDS
    Summary
    The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in esophagus (RPKM 16.7), kidney (RPKM 9.9) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RIPK4 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (41739373..41767052, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (40129762..40157439, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43159533..43187212, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 479 Neighboring gene long intergenic non-protein coding RNA 112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43154537-43155036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43160656-43161352 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43173001-43173792 Neighboring gene microRNA 6814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43180486-43181120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43181121-43181755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43181756-43182390 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr21:43182391-43183024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43183726-43184325 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43184326-43184924 Neighboring gene uncharacterized LOC102724800 Neighboring gene Sharpr-MPRA regulatory region 172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43192149-43192696 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:43216480-43216980 Neighboring gene PR/SET domain 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18485 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:43241376-43242575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43256373-43257080 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:43274198-43275397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18492

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Retroviral insertional mutagenesis in telomerase-immortalized hepatocytes identifies RIPK4 as novel tumor suppressor in human hepatocarcinogenesis. Heim D, et al. Oncogene, 2015 Jan 15. PMID 24413083
    2. Influence of protein kinase RIPK4 expression on the apoptosis and proliferation of chondrocytes in osteoarthritis. Zou L, et al. Mol Med Rep, 2018 Feb. PMID 29257245, Free PMC Article
    3. RIPK4/PEBP1 axis promotes pancreatic cancer cell migration and invasion by activating RAF1/MEK/ERK signaling. Qi ZH, et al. Int J Oncol, 2018 Apr. PMID 29436617, Free PMC Article
    4. Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. Busa T, et al. Am J Med Genet A, 2017 Nov. PMID 28940926
    5. RIPK4 promotes bladder urothelial carcinoma cell aggressiveness by upregulating VEGF-A through the NF-κB pathway. Liu JY, et al. Br J Cancer, 2018 Jun. PMID 29867225, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GSK3beta and UCHL3 govern RIPK4 homeostasis via deubiquitination to enhance tumor metastasis in ovarian cancer.
      Title: GSK3β and UCHL3 govern RIPK4 homeostasis via deubiquitination to enhance tumor metastasis in ovarian cancer.
    2. The involvement of RIPK4 in TNF-alpha-stimulated IL-6 and IL-8 production by melanoma cells.
      Title: The involvement of RIPK4 in TNF-α-stimulated IL-6 and IL-8 production by melanoma cells.
    3. m6A-modified RIPK4 facilitates proliferation and cisplatin resistance in epithelial ovarian cancer.
      Title: m6A-modified RIPK4 facilitates proliferation and cisplatin resistance in epithelial ovarian cancer.
    4. RIPK4 Promotes Cell Invasion and the Epithelial-Mesenchymal Transition in Ovarian Cancer.
      Title: RIPK4 Promotes Cell Invasion and the Epithelial-Mesenchymal Transition in Ovarian Cancer.
    5. LncRNA MIR31HG promotes cell proliferation and invasive properties of the MCF-7 cell line by regulation of receptor-interacting serine-threonine kinase 4.
      Title: LncRNA MIR31HG promotes cell proliferation and invasive properties of the MCF-7 cell line by regulation of receptor-interacting serine-threonine kinase 4.
    6. Depletion of RIPK4 parallels higher malignancy potential in cutaneous squamous cell carcinoma.
      Title: Depletion of RIPK4 parallels higher malignancy potential in cutaneous squamous cell carcinoma.
    7. RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
      Title: RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
    8. Receptor interacting protein kinase 4 promotes cell proliferation, migration, and invasion in ovarian cancer via targeting protein kinase C delta.
      Title: Receptor interacting protein kinase 4 promotes cell proliferation, migration, and invasion in ovarian cancer via targeting protein kinase C delta.
    9. Deciphering the Functional Role of RIPK4 in Melanoma.
      Title: Deciphering the Functional Role of RIPK4 in Melanoma.
    10. Downregulation of RIPK4 Expression Inhibits Epithelial-Mesenchymal Transition in Ovarian Cancer through IL-6.
      Title: Downregulation of RIPK4 Expression Inhibits Epithelial-Mesenchymal Transition in Ovarian Cancer through IL-6.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Bartsocas-Papas syndrome 1
    MedGen: C1849718 OMIM: 263650 GeneReviews: Not available
    		Compare labs
    Curly hair, ankyloblepharon, nail dysplasia syndrome
    MedGen: C0406733 OMIM: 214350 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129992, MGC129993

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in morphogenesis of an epithelium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skin development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    receptor-interacting serine/threonine-protein kinase 4
    Names
    PKC-delta-interacting protein kinase
    ankyrin repeat domain-containing protein 3
    protein kinase C-associated kinase
    serine/threonine-protein kinase ANKRD3
    NP_065690.2

    NCBI Reference Sequences (RefSeq)

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    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_032113.2 RefSeqGene

      Range
      5038..32717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020639.3 → NP_065690.2  receptor-interacting serine/threonine-protein kinase 4

      See identical proteins and their annotated locations for NP_065690.2

      Status: REVIEWED

      Source sequence(s)
      AJ278016, AK027424, BC035755, BM979316
      Consensus CDS
      CCDS13675.1
      UniProtKB/TrEMBL
      Q2TB16, Q9H4D1
      Related
      ENSP00000332454.3, ENST00000332512.8
      Conserved Domains (5) summary
      smart00221
      Location:26 → 279
      STYKc; Protein kinase; unclassified specificity
      cd00204
      Location:598 → 723
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14025
      Location:25 → 290
      STKc_RIP4_like; Catalytic domain of the Serine/Threonine kinases, Receptor Interacting Protein 4 and similar proteins
      pfam12796
      Location:608 → 699
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:603 → 634
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      41739373..41767052 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      40129762..40157439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57078.1 GenPept UniProtKB/Swiss-Prot:P57078

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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