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

Gene ID: 25778, updated on 25-Apr-2020

Summary

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
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; 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

Genomic context

See DSTYK in Genome Data Viewer
Location:
1q32.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (205142497..205211702, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (205111631..205180727, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 81 Neighboring gene RB binding protein 5, histone lysine methyltransferase complex subunit Neighboring gene glycogenin 2 pseudogene 2 Neighboring gene ribosomal protein L17 pseudogene 8 Neighboring gene TMCC2 antisense RNA 1 Neighboring gene transmembrane and coiled-coil domain family 2 Neighboring gene NUAK family kinase 2

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

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0472

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine/tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_011507695.1
XP_011507696.1

NCBI Reference Sequences (RefSeq)

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_015375.3NP_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
    Q6XUX3
    Related
    ENSP00000356130.3, ENST00000367162.8
    Conserved Domains (2) summary
    smart00220
    Location:653897
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd13975
    Location:651912
    PKc_Dusty; Catalytic domain of the Dual-specificity Protein Kinase, Dusty
  2. NM_199462.3NP_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/Swiss-Prot
    Q6XUX3
    Related
    ENSP00000356129.3, ENST00000367161.7
    Conserved Domains (2) summary
    smart00220
    Location:653852
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:651867
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    205142497..205211702 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509392.2XP_011507694.1  dual serine/threonine and tyrosine protein kinase isoform X1

    Conserved Domains (2) summary
    smart00220
    Location:644888
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd13975
    Location:642903
    PKc_Dusty; Catalytic domain of the Dual-specificity Protein Kinase, Dusty
  2. XM_011509393.2XP_011507695.1  dual serine/threonine and tyrosine protein kinase isoform X2

    Conserved Domains (2) summary
    smart00220
    Location:458702
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd13975
    Location:456717
    PKc_Dusty; Catalytic domain of the Dual-specificity Protein Kinase, Dusty
  3. XM_011509394.2XP_011507696.1  dual serine/threonine and tyrosine protein kinase isoform X3

    Conserved Domains (2) summary
    smart00220
    Location:444688
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd13975
    Location:442703
    PKc_Dusty; Catalytic domain of the Dual-specificity Protein Kinase, Dusty
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