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

Gene ID: 54101, updated on 2-Nov-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
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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

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