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

Gene ID: 1859, updated on 8-Apr-2014
Official Symbol
DYRK1Aprovided by HGNC
Official Full Name
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1Aprovided by HGNC
Primary source
HGNC:3091
See related
Ensembl:ENSG00000157540; HPRD:09018; MIM:600855; Vega:OTTHUMG00000086657
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]
Location :
21q22.13
Sequence :
Chromosome: 21; NC_000021.9 (37365790..37515376)
See DYRK1A in Epigenomics, MapViewer

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene Down syndrome critical region gene 9 (non-protein coding) Neighboring gene Down syndrome critical region gene 3 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 6 Neighboring gene uncharacterized LOC101928368 Neighboring gene Down syndrome critical region gene 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mental retardation, autosomal dominant 7
MedGen: C3279839 OMIM: 614104 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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
  • 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...
  • 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...
  • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog proteins are a family of secreted ligands that include sonic hedgehog, Indian hedgehog and desert hedgehog in humans. Binding of Hedgehog ligands to their receptors, Patched 1 and 2, pre...
  • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
    Mitotic G1-G1/S phases, organism-specific biosystem
    Mitotic G1-G1/S phases
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP 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
PubMed 
protein self-association ISS
Inferred from Sequence or Structural Similarity
more info
 
protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
Process Evidence Code Pubs
circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
mitotic cell cycle TAS
Traceable Author Statement
more info
 
negative regulation of DNA damage response, signal transduction by p53 class mediator ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
peptidyl-serine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
peptidyl-threonine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
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 protein deacetylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear speck ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
ribonucleoprotein complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
dual specificity tyrosine-phosphorylation-regulated kinase 1A
Names
dual specificity tyrosine-phosphorylation-regulated kinase 1A
hMNB
MNB/DYRK protein kinase
serine/threonine kinase MNB
mnb protein kinase homolog hp86
protein kinase minibrain homolog
dual specificity YAK1-related kinase
serine/threonine-specific protein kinase
NP_001387.2
NP_567824.1
NP_569120.1
NP_569122.1

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
    5001..152821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001396.3NP_001387.2  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1

    See proteins identical to NP_001387.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AP001421, U52373
    Consensus CDS
    CCDS42925.1
    UniProtKB/Swiss-Prot
    Q13627
    Conserved Domains (2) summary
    smart00220
    Location:159479
    Blast Score: 614
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:159479
    Blast Score: 510
    PKc_like; Protein Kinases, catalytic domain
  2. NM_101395.2NP_567824.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 3

    See proteins identical to 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, OTTHUMP00000109090, ENST00000338785, OTTHUMT00000194799
    Conserved Domains (2) summary
    smart00220
    Location:159479
    Blast Score: 599
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:159479
    Blast Score: 502
    PKc_like; Protein Kinases, catalytic domain
  3. NM_130436.2NP_569120.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2

    See proteins identical to 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
    Conserved Domains (2) summary
    smart00220
    Location:150470
    Blast Score: 614
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:150470
    Blast Score: 510
    PKc_like; Protein Kinases, catalytic domain
  4. NM_130438.2NP_569122.1  dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 5

    See proteins identical to 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
    Conserved Domains (2) summary
    smart00220
    Location:159479
    Blast Score: 593
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:159479
    Blast Score: 496
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000021.9

    Range
    37365790..37515376
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723977.1XP_006724040.1  

    See proteins identical to XP_006724040.1

    Conserved Domains (2) summary
    smart00220
    Location:159479
    Blast Score: 614
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:159479
    Blast Score: 510
    PKc_like; Protein Kinases, catalytic domain
  2. XM_006723979.1XP_006724042.1  

    See proteins identical to XP_006724042.1

    Conserved Domains (2) summary
    smart00220
    Location:150470
    Blast Score: 614
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:150470
    Blast Score: 510
    PKc_like; Protein Kinases, catalytic domain
  3. XM_006723978.1XP_006724041.1  

    See proteins identical to XP_006724041.1

    Conserved Domains (2) summary
    smart00220
    Location:159479
    Blast Score: 614
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:159479
    Blast Score: 510
    PKc_like; Protein Kinases, catalytic domain
  4. XM_006723976.1XP_006724039.1  

    See proteins identical to XP_006724039.1

    Conserved Domains (2) summary
    smart00220
    Location:159479
    Blast Score: 614
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:159479
    Blast Score: 510
    PKc_like; Protein Kinases, catalytic domain
  5. XM_005260931.2XP_005260988.1  

    See proteins identical to XP_005260988.1

    Conserved Domains (2) summary
    smart00220
    Location:130450
    Blast Score: 614
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:130450
    Blast Score: 510
    PKc_like; Protein Kinases, catalytic domain
  6. XM_005260933.2XP_005260990.1  

    See proteins identical to XP_005260990.1

    UniProtKB/TrEMBL
    F8WAP0
    Conserved Domains (2) summary
    smart00220
    Location:3251
    Blast Score: 454
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl09925
    Location:4251
    Blast Score: 421
    PKc_like; Protein Kinases, catalytic domain

Alternate HuRef

Genomic

  1. AC_000153.1 Alternate HuRef

    Range
    24215875..24363782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    38301002..38448854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.

Supplemental Content

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