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DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A [ Homo sapiens (human) ]

Gene ID: 1859, updated on 6-Jan-2019

Summary

Official Symbol
DYRK1Aprovided by HGNC
Official Full Name
dual specificity tyrosine phosphorylation regulated kinase 1Aprovided by HGNC
Primary source
HGNC:HGNC:3091
See related
Ensembl:ENSG00000157540 MIM:600855
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
MNB; DYRK; HP86; MNBH; MRD7; DYRK1
Summary
This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 11.6), testis (RPKM 9.5) and 25 other tissues See more
Orthologs

Genomic context

See DYRK1A in Genome Data Viewer
Location:
21q22.13
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (37365573..37515376)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (38739859..38887679)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 678, pseudogene Neighboring gene Down syndrome critical region 9 Neighboring gene VPS26 endosomal protein sorting factor C Neighboring gene uncharacterized LOC105372797 Neighboring gene uncharacterized LOC105372798 Neighboring gene potassium voltage-gated channel subfamily J member 6 Neighboring gene uncharacterized LOC107985507

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-19)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-19)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study of the metabolic syndrome in Indian Asian men.
NHGRI GWA Catalog
Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • G0 and Early G1, organism-specific biosystem (from REACTOME)
    G0 and Early G1, organism-specific biosystemIn G0 and early G1 in quiescent cells, p130 (RBL2) bound to E2F4 or E2F5 and either DP1 or DP2, associates with the MuvB complex, forming an evolutionarily conserved DREAM complex, that represses tra...
  • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
    Mitotic G1-G1/S phases, organism-specific biosystem
    Mitotic G1-G1/S phases
  • T-Cell Receptor and Co-stimulatory Signaling, organism-specific biosystem (from WikiPathways)
    T-Cell Receptor and Co-stimulatory Signaling, organism-specific biosystemThe activation and translocation of transcription factors NFAT, AP-1 and NF-kappa-B via the co-stimulatory signaling cascade triggered by MHC peptide, B7 proteins and PD-L1. The activation of NFAT in...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
non-membrane spanning protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity TAS
Traceable Author Statement
more info
 
protein self-association ISS
Inferred from Sequence or Structural Similarity
more info
 
protein serine/threonine kinase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein serine/threonine kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein serine/threonine/tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
tau protein binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
tau protein binding NAS
Non-traceable Author Statement
more info
PubMed 
tau-protein kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
amyloid-beta formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of DNA damage response, signal transduction by p53 class mediator ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
negative regulation of microtubule polymerization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
peptidyl-serine autophosphorylation TAS
Traceable Author Statement
more info
PubMed 
peptidyl-serine phosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-threonine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
peptidyl-tyrosine autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine autophosphorylation TAS
Traceable Author Statement
more info
PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein deacetylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of alternative mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
colocalizes_with cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear speck ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear speck TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
ribonucleoprotein complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dual specificity tyrosine-phosphorylation-regulated kinase 1A
Names
MNB/DYRK protein kinase
dual specificity YAK1-related kinase
dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
mnb protein kinase homolog hp86
protein kinase minibrain homolog
serine/threonine kinase MNB
serine/threonine-specific protein kinase
NP_001334650.1
NP_001334651.1
NP_001334652.1
NP_001387.2
NP_567824.1
NP_569120.1
NP_569122.1
XP_005260990.1
XP_006724039.1
XP_006724040.1
XP_006724041.1
XP_011527785.1
XP_016883773.1
XP_016883775.1
XP_024307825.1

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_009366.1 RefSeqGene

    Range
    3017..152821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001347721.2NP_001334650.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP001413, AP001421, AP001428, AP001437, KF457264, KF511415
    Consensus CDS
    CCDS13653.1
    UniProtKB/Swiss-Prot
    Q13627
    Related
    ENSP00000494572.1, ENST00000647188.1
    Conserved Domains (1) summary
    cd14226
    Location:139475
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  2. NM_001347722.1NP_001334651.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP001413, AP001421, AP001428, AP001437, KF457264
    Consensus CDS
    CCDS13653.1
    UniProtKB/Swiss-Prot
    Q13627
    Related
    ENSP00000496748.1, ENST00000647425.1
    Conserved Domains (1) summary
    cd14226
    Location:139475
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  3. NM_001347723.1NP_001334652.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP001413, AP001421, AP001437, KF457264
    Consensus CDS
    CCDS86987.1
    Related
    ENSP00000495571.1, ENST00000647504.1
    Conserved Domains (1) summary
    cd14226
    Location:110446
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  4. NM_001396.4NP_001387.2  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1

    See identical proteins and their annotated locations for NP_001387.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AP001413, AP001421, AP001428, AP001437, KF457264
    Consensus CDS
    CCDS42925.1
    UniProtKB/Swiss-Prot
    Q13627
    Related
    ENSP00000340373.4, ENST00000339659.9
    Conserved Domains (1) summary
    cd14226
    Location:148484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  5. NM_101395.2NP_567824.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 3

    See identical proteins and their annotated locations for NP_567824.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is alternatively spliced in the 5' UTR and in the 3' coding region, as compared to variant 1. It encodes a 179 aa shorter isoform which lacks the poly-His domain and has a different C-terminus, compared to isoform 1.
    Source sequence(s)
    AF108830, AP001421
    Consensus CDS
    CCDS42926.1
    UniProtKB/Swiss-Prot
    Q13627
    Related
    ENSP00000342690.3, ENST00000338785.8
    Conserved Domains (2) summary
    smart00220
    Location:159479
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14226
    Location:148484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  6. NM_130436.2NP_569120.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2

    See identical proteins and their annotated locations for NP_569120.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is alternatively spliced in the 5' UTR and in an internal region of the coding sequence, as compared to variant 1. It encodes a 9 aa shorter isoform which has identical N- and C-termini to those of isoform 1.
    Source sequence(s)
    AP001421, AP001428, D86550
    Consensus CDS
    CCDS13653.1
    UniProtKB/Swiss-Prot
    Q13627
    Related
    ENSP00000495908.1, ENST00000646548.1
    Conserved Domains (1) summary
    cd14226
    Location:139475
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  7. NM_130438.2NP_569122.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 5

    See identical proteins and their annotated locations for NP_569122.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks a 3' coding exon, as compared to variant 1. It encodes a 234 aa shorter isoform which lacks the poly-His domain and has a different C-terminus, compared to isoform 1.
    Source sequence(s)
    AF108830, AP001421
    Consensus CDS
    CCDS13654.1
    UniProtKB/Swiss-Prot
    Q13627
    Related
    ENSP00000381929.2, ENST00000398956.2
    Conserved Domains (1) summary
    cd14226
    Location:148484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    37365573..37515376
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723977.3XP_006724040.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1

    See identical proteins and their annotated locations for XP_006724040.1

    UniProtKB/Swiss-Prot
    Q13627
    Conserved Domains (1) summary
    cd14226
    Location:148484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  2. XM_006723978.3XP_006724041.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1

    See identical proteins and their annotated locations for XP_006724041.1

    UniProtKB/Swiss-Prot
    Q13627
    Related
    ENSP00000494544.1, ENST00000644942.1
    Conserved Domains (1) summary
    cd14226
    Location:148484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  3. XM_011529483.2XP_011527785.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1

    See identical proteins and their annotated locations for XP_011527785.1

    UniProtKB/Swiss-Prot
    Q13627
    Conserved Domains (1) summary
    cd14226
    Location:148484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  4. XM_006723976.3XP_006724039.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1

    See identical proteins and their annotated locations for XP_006724039.1

    UniProtKB/Swiss-Prot
    Q13627
    Related
    ENSP00000381932.2, ENST00000398960.7
    Conserved Domains (1) summary
    cd14226
    Location:148484
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  5. XM_017028284.1XP_016883773.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X2

    UniProtKB/Swiss-Prot
    Q13627
    Related
    ENSP00000493627.1, ENST00000643624.1
    Conserved Domains (1) summary
    cd14226
    Location:139475
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  6. XM_024452057.1XP_024307825.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X4

    Conserved Domains (1) summary
    cd14226
    Location:110446
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  7. XM_017028286.2XP_016883775.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X3

    Conserved Domains (1) summary
    cd14226
    Location:119455
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
  8. XM_005260933.5XP_005260990.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X5

    See identical proteins and their annotated locations for XP_005260990.1

    Conserved Domains (2) summary
    smart00220
    Location:3251
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14226
    Location:1256
    PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_130437.2: Suppressed sequence

    Description
    NM_130437.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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