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DSTYK dual serine/threonine and tyrosine protein kinase [ Homo sapiens (human) ]

Gene ID: 25778, updated on 3-Nov-2024

Summary

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Official Symbol
DSTYKprovided by HGNC
Official Full Name
dual serine/threonine and tyrosine protein kinaseprovided by HGNC
Primary source
HGNC:HGNC:29043
See related
Ensembl:ENSG00000133059 MIM:612666; AllianceGenome:HGNC:29043
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
RIP5; RIPK5; SPG23; CAKUT1; RHDNS1; DustyPK; HDCMD38P
Summary
This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Expression
Ubiquitous expression in brain (RPKM 8.1), bone marrow (RPKM 6.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See DSTYK in Genome Data Viewer
Location:
1q32.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (205142505..205211702, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (204406864..204475975, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205111633..205180830, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1805 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205074018 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205075359 Neighboring gene RB binding protein 5, histone lysine methyltransferase complex subunit Neighboring gene glycogenin 2 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205089166-205089724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2375 Neighboring gene Sharpr-MPRA regulatory region 3970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205101461-205101961 Neighboring gene signal peptidase complex subunit 1-like Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205104550 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:205106956-205107504 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205110917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205143827-205144328 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:205160687-205161231 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205163798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1734 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205183288 Neighboring gene ribosomal protein L17 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1735 Neighboring gene TMCC2 antisense RNA 1 Neighboring gene transmembrane and coiled-coil domain family 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:205220889-205221086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205226461-205226970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:205232393-205233090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:205237153-205237653 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205238617-205239137 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:205240913 Neighboring gene Sharpr-MPRA regulatory region 11318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205243188-205243769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205243770-205244352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205244961-205245620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2378 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:205263045-205264244 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:205269741-205270592 and GRCh37_chr1:205270593-205271445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205271446-205272297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:205273151-205274001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1736 Neighboring gene NUAK family kinase 2

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. Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies. Martino J, et al. Genet Med, 2023 Dec. PMID 37746849
  2. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Blumen SC, et al. Ann Neurol, 2003 Dec. PMID 14681889
  3. DSTYK inhibition increases the sensitivity of lung cancer cells to T cell-mediated cytotoxicity. Valencia K, et al. J Exp Med, 2022 Dec 5. PMID 36169652, Free PMC Article
  4. DSTYK Enhances Chemoresistance in Triple-Negative Breast Cancer Cells. Ogbu SC, et al. Cells, 2021 Dec 29. PMID 35011659, Free PMC Article
  5. RIPK3 promotes adenovirus type 5 activity. Weigert M, et al. Cell Death Dis, 2017 Dec 13. PMID 29238045, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
    Title: Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
  2. Aberrations in FGFR1, FGFR2, and RIP5 Expression in Human Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
    Title: Aberrations in FGFR1, FGFR2, and RIP5 Expression in Human Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
  3. DSTYK inhibition increases the sensitivity of lung cancer cells to T cell-mediated cytotoxicity.
    Title: DSTYK inhibition increases the sensitivity of lung cancer cells to T cell-mediated cytotoxicity.
  4. DSTYK Enhances Chemoresistance in Triple-Negative Breast Cancer Cells.
    Title: DSTYK Enhances Chemoresistance in Triple-Negative Breast Cancer Cells.
  5. RIPK3 promotes adenovirus type 5 oncolytic activity.
    Title: RIPK3 promotes adenovirus type 5 activity.
  6. we identified a complex homozygous 4-kb deletion/20-bp insertion in DSTYK in all four affected family members with Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
    Title: Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
  7. We detected independent DSTYK mutations in 2.3% of patients with congenital abnormalities of the kidney or urinary tract, a finding that suggests that DSTYK is a major determinant of human urinary tract development, downstream of FGF signaling.
    Title: Mutations in DSTYK and dominant urinary tract malformations.
  8. Confocal imaging of transiently expressed human Dusty-GFP fusion proteins showed a cytoplasmic distribution.
    Title: Dusty protein kinases: primary structure, gene evolution, tissue specific expression and unique features of the catalytic domain.
Submit: New GeneRIF Correction

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
Congenital anomalies of kidney and urinary tract 1
MedGen: C1835826 OMIM: 610805 GeneReviews: Not available
Compare labs
Hereditary spastic paraplegia 23
MedGen: C0796019 OMIM: 270750 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0472

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine/tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cellular response to fibroblast growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to fibroblast growth factor stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of fibroblast growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of fibroblast growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
dual serine/threonine and tyrosine protein kinase
Names
RIP-homologous kinase
dusty PK
dusty protein kinase
receptor-interacting serine/threonine-protein kinase 5
sgK496
spastic paraplegia 23 (autosomal recessive)
sugen kinase 496
NP_056190.1
NP_955749.1
XP_011507694.1
XP_011507696.1
XP_047273101.1
XP_047273103.1
XP_047273107.1
XP_047273108.1
XP_054191825.1
XP_054191826.1
XP_054191827.1
XP_054191828.1
XP_054191829.1
XP_054191830.1

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_033904.1 RefSeqGene

    Range
    4898..74095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015375.3 → NP_056190.1  dual serine/threonine and tyrosine protein kinase isoform 1

    See identical proteins and their annotated locations for NP_056190.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC093422, AY429674, BC060870
    Consensus CDS
    CCDS1451.1
    UniProtKB/Swiss-Prot
    B7ZL64, O75060, Q17R94, Q5RKT0, Q6IN87, Q6P997, Q6XUX3, Q86Y03, Q9P1S5
    UniProtKB/TrEMBL
    B4DNQ3
    Related
    ENSP00000356130.3, ENST00000367162.8
    Conserved Domains (2) summary
    smart00220
    Location:653 → 897
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd13975
    Location:651 → 912
    PKc_Dusty; Catalytic domain of the Dual-specificity Protein Kinase, Dusty

  2. NM_199462.3 → NP_955749.1  dual serine/threonine and tyrosine protein kinase isoform 2

    See identical proteins and their annotated locations for NP_955749.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, as compared to variant 1. The encoded isoform 2 is missing an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC093422, AY429674, BC053627, BC060870
    Consensus CDS
    CCDS1452.1
    UniProtKB/TrEMBL
    B4DNQ3
    Related
    ENSP00000356129.3, ENST00000367161.7
    Conserved Domains (2) summary
    smart00220
    Location:653 → 852
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:651 → 867
    PKc_like; Protein Kinases, catalytic domain

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    205142505..205211702 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417152.1 → XP_047273108.1  dual serine/threonine and tyrosine protein kinase isoform X6

  2. XM_011509394.3 → XP_011507696.1  dual serine/threonine and tyrosine protein kinase isoform X4

    Conserved Domains (2) summary
    smart00220
    Location:444 → 688
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd13975
    Location:442 → 703
    PKc_Dusty; Catalytic domain of the Dual-specificity Protein Kinase, Dusty

  3. XM_047417145.1 → XP_047273101.1  dual serine/threonine and tyrosine protein kinase isoform X2

  4. XM_011509392.3 → XP_011507694.1  dual serine/threonine and tyrosine protein kinase isoform X1

    UniProtKB/TrEMBL
    B4DNQ3
    Conserved Domains (2) summary
    smart00220
    Location:644 → 888
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd13975
    Location:642 → 903
    PKc_Dusty; Catalytic domain of the Dual-specificity Protein Kinase, Dusty

  5. XM_047417151.1 → XP_047273107.1  dual serine/threonine and tyrosine protein kinase isoform X5

  6. XM_047417147.1 → XP_047273103.1  dual serine/threonine and tyrosine protein kinase isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    204406864..204475975 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335855.1 → XP_054191830.1  dual serine/threonine and tyrosine protein kinase isoform X6

  2. XM_054335853.1 → XP_054191828.1  dual serine/threonine and tyrosine protein kinase isoform X4

  3. XM_054335851.1 → XP_054191826.1  dual serine/threonine and tyrosine protein kinase isoform X2

  4. XM_054335850.1 → XP_054191825.1  dual serine/threonine and tyrosine protein kinase isoform X1

  5. XM_054335854.1 → XP_054191829.1  dual serine/threonine and tyrosine protein kinase isoform X5

  6. XM_054335852.1 → XP_054191827.1  dual serine/threonine and tyrosine protein kinase isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6XUX3.2 GenPept UniProtKB/Swiss-Prot:Q6XUX3

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