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

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; AllianceGenome:HGNC:3091
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: mouse all
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Genomic context

Location:: 21q22.13

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (37365573..37526358)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (35747888..35908739)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (38737875..38898660)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DYRK1A interacts with the tuberous sclerosis complex and promotes mTORC1 activity.
Title: DYRK1A interacts with the tuberous sclerosis complex and promotes mTORC1 activity.
The dual-specificity kinase DYRK1A interacts with the Hepatitis B virus genome and regulates the production of viral RNA.
Title: The dual-specificity kinase DYRK1A interacts with the Hepatitis B virus genome and regulates the production of viral RNA.
Nuclear F-actin assembly on damaged chromatin is regulated by DYRK1A and Spir1 phosphorylation.
Title: Nuclear F-actin assembly on damaged chromatin is regulated by DYRK1A and Spir1 phosphorylation.
Dual-specificity tyrosine phosphorylation-regulated kinase 1A promotes the inclusion of amyloid precursor protein exon 7.
Title: Dual-specificity tyrosine phosphorylation-regulated kinase 1A promotes the inclusion of amyloid precursor protein exon 7.
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
Title: Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
MicroRNA-221-3p inhibits the inflammatory response of keratinocytes by regulating the DYRK1A/STAT3 signaling pathway to promote wound healing in diabetes.
Title: MicroRNA-221-3p inhibits the inflammatory response of keratinocytes by regulating the DYRK1A/STAT3 signaling pathway to promote wound healing in diabetes.
Functions of SRPK, CLK and DYRK kinases in stem cells, development, and human developmental disorders.
Title: Functions of SRPK, CLK and DYRK kinases in stem cells, development, and human developmental disorders.
DYRK1A gene linked to heart defects in Down syndrome.
Title: DYRK1A gene linked to heart defects in Down syndrome.
Loss of the DYRK1A Protein Kinase Results in the Reduction in Ribosomal Protein Gene Expression, Ribosome Mass and Reduced Translation.
Title: Loss of the DYRK1A Protein Kinase Results in the Reduction in Ribosomal Protein Gene Expression, Ribosome Mass and Reduced Translation.
DYRK1A is a multifunctional host factor that regulates coronavirus replication in a kinase-independent manner.
Title: DYRK1A is a multifunctional host factor that regulates coronavirus replication in a kinase-independent manner.

Submit: New GeneRIF Correction See all GeneRIFs (169)

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
DYRK1A-related intellectual disability syndrome MedGen: C5568143 OMIM: 614104 GeneReviews: DYRK1A Syndrome	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-16) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-16) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-51948 (e-PCR)
- UniSTS:26628

Dyrk1a (e-PCR), detects polymorphism
- UniSTS:259077

D21S270 (e-PCR), detects polymorphism
- UniSTS:41735

STS-G06294 (e-PCR)
- UniSTS:10505

SHGC-105235 (e-PCR)
- UniSTS:169236

RH120501 (e-PCR)
- UniSTS:133666

DYRK1A__4795 (e-PCR)
- UniSTS:462887

SHGC-63617 (e-PCR)
- UniSTS:43866

DYRK1A (e-PCR)
- UniSTS:506204

SHGC-50010 (e-PCR)
- UniSTS:5746

D21S1972 (e-PCR)
- UniSTS:378

Dyrk1a (e-PCR), detects polymorphism
- UniSTS:536448

SHGC-87629 (e-PCR)
- UniSTS:9867

SHGC-87626 (e-PCR)
- UniSTS:67212

SHGC-51949 (e-PCR)
- UniSTS:16022

D21S394 (e-PCR)
- UniSTS:147863

SHGC-170065 (e-PCR)
- UniSTS:173721

D11Wox11 (e-PCR)
- UniSTS:518811

G34602 (e-PCR)
- UniSTS:70325

SHGC-87621 (e-PCR)
- UniSTS:40388

SHGC-52085 (e-PCR)
- UniSTS:25293

RH91183 (e-PCR)
- UniSTS:86487

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables actin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytoskeletal protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone H2AXY142 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables non-membrane spanning protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	TAS Traceable Author Statement more info	PubMed
enables protein serine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein serine/threonine kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info
enables protein serine/threonine/tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables tau protein binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables tau protein binding	NAS Non-traceable Author Statement more info	PubMed
enables tau-protein kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in circadian rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of heterochromatin formation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mRNA splicing, via spliceosome	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of microtubule polymerization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in peptidyl-serine autophosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in peptidyl-serine phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in peptidyl-serine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in peptidyl-threonine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in peptidyl-tyrosine autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-tyrosine autophosphorylation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of RNA splicing	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein deacetylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein autophosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
colocalizes_with actin filament	IPI Inferred from Physical Interaction more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
colocalizes_with cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with microtubule	IPI Inferred from Physical Interaction more info	PubMed
colocalizes_with neurofilament	IPI Inferred from Physical Interaction more info	PubMed
located_in nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear speck	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info

General protein information

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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

EC 2.7.11.23

EC 2.7.12.1

NP_001334651.1

EC 2.7.11.23

EC 2.7.12.1

NP_001334652.1

EC 2.7.11.23

EC 2.7.12.1

NP_001387.2

EC 2.7.11.23

EC 2.7.12.1

NP_567824.1

EC 2.7.11.23

EC 2.7.12.1

NP_569120.1

EC 2.7.11.23

EC 2.7.12.1

NP_569122.1

EC 2.7.11.23

EC 2.7.12.1

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

NG_009366.2 RefSeqGene

Range

6202..165787

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001347721.2 → NP_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, ENST00000647188.2

Conserved Domains (1) summary

cd14226
Location:139 → 475

PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
NM_001347722.2 → NP_001334651.1 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

ENSP00000496748.1, ENST00000647425.1

Conserved Domains (1) summary

cd14226
Location:139 → 475

PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
NM_001347723.2 → NP_001334652.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 6

Status: REVIEWED

Source sequence(s)

AP001413, AP001421, AP001437, KF457264, KF511415

Consensus CDS

CCDS86987.1

UniProtKB/TrEMBL

A0A2R8Y6I6

Related

ENSP00000495571.1, ENST00000647504.1

Conserved Domains (1) summary

cd14226
Location:110 → 446

PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
NM_001396.5 → NP_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, KF511415

Consensus CDS

CCDS42925.1

UniProtKB/Swiss-Prot

O60769, Q13627, Q92582, Q92810, Q9UNM5

Related

ENSP00000381932.2, ENST00000398960.7

Conserved Domains (1) summary

cd14226
Location:148 → 484

PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
NM_101395.2 → NP_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/TrEMBL

A0A2R8Y6L5

Related

ENSP00000342690.3, ENST00000338785.8

Conserved Domains (2) summary

smart00220
Location:159 → 479

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14226
Location:148 → 484

PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
NM_130436.2 → NP_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:139 → 475

PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1
NM_130438.2 → NP_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/TrEMBL

A0A2R8YDF3

Related

ENSP00000381929.2, ENST00000398956.2

Conserved Domains (1) summary

cd14226
Location:148 → 484

PKc_DYRK1; Catalytic domain of the protein kinase, Dual-specificity tYrosine-phosphorylated and -Regulated Kinase 1

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

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

37365573..37526358

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060945.1 Alternate T2T-CHM13v2.0

Range

35747888..35908739

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.