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

    Gene ID: 25778, updated on 2-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. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. Lee JYW, et al. Am J Hum Genet, 2017 Feb 2. PMID 28157540, Free PMC Article

    See all (32) 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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