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DYRK1A Gene

protein-coding GIFtS: 72
GCID: GC21P038739

Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated...

(Previous symbols: DYRK1, DYRK, MNBH)

See DYRK1A-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, ¹⁵RNAdb, and/or ¹¹Nature:405,311-319 and CroW21)
About This Section

Aliases
Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A¹ ²		MRD7² ⁵
MNBH¹ ² ³ ⁵		Dual-Specificity Tyrosine-Y-Phosphorylation Regulated Kinase, EC 2.7.111
DYRK¹ ² ³		Dual Specificity Tyrosine-Phosphorylation-Regulated Kinase 1A²
MNB² ³ ⁵		Mnb Protein Kinase Homolog Hp86²
DYRK1¹ ²		MNB/DYRK Protein Kinase²
Dual Specificity YAK1-Related Kinase² ³		Serine/Threonine Kinase MNB²
Protein Kinase Minibrain Homolog² ³		Serine/Threonine-Specific Protein Kinase²
HP86² ³		EC 2.7.12.1³
hMNB² ³		EC 2.7.12⁸

External Ids:	HGNC: 3091¹	Entrez Gene: 1859²	Ensembl: ENSG00000157540⁷	OMIM: 600855⁵	UniProtKB: Q13627³

Export aliases for DYRK1A gene to outside databases

Previous GC identifers: GC21P035317 GC21P037659 GC21P037712 GC21P037660 GC21P037661 GC21P024215

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DYRK1A Gene:

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)

GeneCards Summary for DYRK1A Gene:

DYRK1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A) is a protein-coding gene. Diseases associated with DYRK1A include mental retardation, autosomal dominant 7, and down syndrome. GO annotations related to this gene include protein serine/threonine kinase activity and protein tyrosine kinase activity. An important paralog of this gene is DYRK2.

UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627

Function: May play a role in a signaling pathway regulating nuclear functions of cell proliferation.

Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates such as CRY2,

FOXO1 and SIRT1

Gene Wiki entry for DYRK1A Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000021.8 NT_011512.12 NC_018932.2

Regulatory elements:

Regulatory transcription factor binding sites in the DYRK1A gene promoter:
AP-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DYRK1A promoter sequence

Search Chromatin IP Primers for DYRK1A

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DYRK1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.13 Ensembl cytogenetic band: 21q22.13 HGNC cytogenetic band: 21q22.13
Nature(405: 311-319) cytogenetic band: 21q22.13

DYRK1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYRK1A gene location

GeneLoc information about chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21P038739:	GeneLoc	Nature:405,311-319
Start:	38,738,092 bp from pter	24,367,732 bp from centromere
End:	38,889,753 bp from pter	24,464,002 bp from centromere
Size:	151,662 bases	96,271 bases
Orientation:	plus strand	plus strand

Whole chromosome sequencing:
cDNA sequence:	D86550
genomic clones:	pT1091 to pS165

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627 (See protein sequence)

Recommended Name: Dual specificity tyrosine-phosphorylation-regulated kinase 1A

Size: 763 amino acids; 85584 Da

Subunit: Interacts RAD54L2/ARIP4. Interacts with CRY2 (By similarity). Interacts with RANBP9. Interacts with WDR68

Developmental stage: Expressed in the developing central nervous system. Overexpressed 1.5-fold in fetal Down

syndrome brain

Selected PDB 3D structures from and Proteopedia for DYRK1A (see all 7):

2VX3 (3D)

2WO6 (3D)

3ANQ (3D)

3ANR (3D)

4AZE (3D)

4MQ1 (3D)

Secondary accessions: O60769 Q92582 Q92810 Q9UNM5

Alternative splicing: 5 isoforms: Q13627-1 Q13627-2 Q13627-3 Q13627-4 Q13627-5

Explore the universe of human proteins at neXtProt for DYRK1A: NX_Q13627

Explore proteomics data for DYRK1A at MOPED

Post-translational modifications:

Autophosphorylated on tyrosine residues¹

Ubiquitination² at Lys304

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for DYRK1A (Q13627) (see all 21)

QYSDRRQ

DQIQQPL

EAPTQVT

QAPKARK

See DYRK1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts):

NP_001387.2 NP_567824.1 NP_569120.1 NP_569122.1

ENSEMBL proteins:

ENSP00000342690 ENSP00000398483 ENSP00000412269 ENSP00000340373 ENSP00000381932

ENSP00000381929 ENSP00000319032 ENSP00000416089 ENSP00000407854

Reactome Protein details: Q13627

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IUPHAR Guide to PHARMACOLOGY protein family classification: dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A

Dyrk1 subfamily

5 InterPro protein domains:

IPR017441 Protein_kinase_ATP_BS

IPR002290 Ser/Thr_dual-sp_kinase_dom

IPR011009 Kinase-like_dom

IPR008271 Ser/Thr_kinase_AS

IPR000719 Prot_kinase_dom

Graphical View of Domain Structure for InterPro Entry Q13627

ProtoNet protein and cluster: Q13627

UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627

Domain: The polyhistidine repeats act as targeting signals to nuclear speckles (PubMed:19266028)

Similarity: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily

Similarity: Contains 1 protein kinase domain

Find genes that share domains with DYRK1A About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DYR1A_HUMAN, Q13627

Function: May play a role in a signaling pathway regulating nuclear functions of cell proliferation.

Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates such as CRY2,

FOXO1 and SIRT1

Catalytic activity: ATP + a protein = ADP + a phosphoprotein

Enzyme regulation: Inhibited by RANBP9

Genatlas biochemistry entry for DYRK1A:

dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1,Drosophila minibrain homolog Dres27,mouse homolog

ubiquitously expressed at low levels in embryo,expressed in adult central nervous system

-cortex,hippocampus,striatum and spinal cord) located in the Down syndrome critical region (DCR),involved in

post-embryonic neurogenesis,putatively overexpressed in Down syndrome and involved in the learning defect and in

hypotonia

Enzyme Numbers (IUBMB): EC 2.7.12² EC 2.7.12.1¹

Gene Ontology (GO): Selected molecular function terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004672	protein kinase activity	TAS	8769099
GO:0004674	protein serine/threonine kinase activity	ISS	--
GO:0004712	protein serine/threonine/tyrosine kinase activity	IEA	--
GO:0004713	protein tyrosine kinase activity	ISS	--
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IDA	9748265

Find genes that share ontologies with DYRK1A About GenesLikeMe

Phenotypes:
5 GenomeRNAi human phenotypes for DYRK1A:

Decreased 12E8 tau but not tot	Decreased substrate adherent c	Increased cell death HMECs cel	Increased colony dispersion (i
Increased mitotic index

7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dyrk1a):

cardiovascular system	craniofacial	embryogenesis	growth/size/body	liver/biliary system
mortality/aging	nervous system

Find genes that share phenotypes with DYRK1A About GenesLikeMe

Animal Models:
MGI mouse knock-out Dyrk1a^tm1Mla for DYRK1A

genOway: Develop your customized and physiologically relevant rodent model for DYRK1A

miRNA Products:		miRTarBase miRNAs that target DYRK1A: hsa-mir-99b-5p (MIRT044178), hsa-mir-192-5p (MIRT026227), hsa-mir-324-5p (MIRT043199), hsa-mir-92a-3p (MIRT049774), hsa-mir-215-5p (MIRT024657), hsa-mir-335-5p (MIRT017031), hsa-mir-148a-3p (MIRT026006)

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

DYR1A_HUMAN, Q13627: Nucleus speckle

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5
cytoskeleton	2
cytosol	2

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	ISS	--
GO:0005654	nucleoplasm	TAS	--
GO:0016607	nuclear speck	ISS	--
GO:0030529	ribonucleoprotein complex	IEA	--

Find genes that share ontologies with DYRK1A About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
About This Section

SuperPaths for DYRK1A About (see all 7)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Cell Cycle, Mitotic

Cell Cycle, Mitotic

0.90

Cell Cycle

0.90

Mitotic G1-G1/S phases

Mitotic G1-G1/S phases

0.81

Translation Insulin regulation of translation

Translation Regulation of EIF2 activity

0.47

Hedgehog Signaling Pathway

Hedgehog Signaling Pathway

0.32

Notch Signaling Pathways

Notch Signaling Pathways

Find genes that share SuperPaths with DYRK1A About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 R&D Systems Pathway for DYRK1A

Notch Signaling Pathways

1 Cell Signaling Technology (CST) Pathway for DYRK1A

Neuroscience

1 GeneGo (Thomson Reuters) Pathway for DYRK1A

Translation Regulation of EIF2 activity

1 BioSystems Pathway for DYRK1A

Hedgehog Signaling Pathway

1 Reactome Pathway for DYRK1A

G0 and Early G1

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for DYRK1A
Interactions:

GeneGlobe Interaction Network for DYRK1A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for DYRK1A (Q13627^{1, 2, 3} ENSP00000381932⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 107)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³, ENSP00000352980⁴	I2D: score=1 STRING: ENSP00000352980
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: score=1

About this table

Gene Ontology (GO): Selected biological process terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000278	mitotic cell cycle	TAS	--
GO:0006468	protein phosphorylation	ISS	--
GO:0007399	nervous system development	TAS	8769099
GO:0007623	circadian rhythm	ISS	--
GO:0018105	peptidyl-serine phosphorylation	IEA	--

Find genes that share ontologies with DYRK1A About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for DYRK1A (DYR1A)

2 HMDB Compounds for DYRK1A About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--

1 DrugBank Compound for DYRK1A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
N-(5-{[(2S)-4-amino-2-(3-chlorophenyl)butanoyl]amino}-1H-indazol-3-yl)benzamide	--	--	target	--	10592235

10 Novoseek inferred chemical compound relationships for DYRK1A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
threonine	63.7	6	15780591 (1), 11828259 (1), 14990717 (1), 19016842 (1) (see all 6)
serine	52.2	4	11828259 (1), 14990717 (1), 19801542 (1), 19796173 (1)
tyrosine	49.9	47	17536841 (6), 19796173 (3), 12604362 (2), 19016842 (2) (see all 17)
glycogen	40.2	1	11311121 (1)
phosphotyrosine	21.3	10	17536841 (2)
leucine	11.7	2	8975710 (1), 9070862 (1)
arginine	8.37	4	10644696 (1), 14623875 (1), 11755526 (1)
proline	3.33	2	11311121 (1)
histidine	0	1	17536841 (1)
alanine	0	2	10644696 (1), 12604362 (1)

Find genes that share compounds with DYRK1A About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for DYRK1A gene (5 alternative transcripts):

NM_001396.3 NM_101395.2 NM_130436.2 NM_130438.2 NM_130437.2

Unigene Cluster for DYRK1A:

Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A

Hs.368240 [show with all ESTs]

Unigene Representative Sequence: NM_130436

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000608928 ENST00000462274 ENST00000338785(uc002ywg.1 uc002ywh.1 uc002ywi.3 uc002ywk.3 uc002ywm.3 uc011aei.2)

ENST00000455097(uc010gno.1) ENST00000426672 ENST00000339659(uc002ywj.3)

ENST00000398960 ENST00000498351 ENST00000398956 ENST00000321219 ENST00000451934

ENST00000455387

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Additional mRNA sequence:

AB015282.1 AB015283.1 AB015284.1 AF108830.1 AJ001870.1 AJ001871.1 AK301752.1 BC030515.1

BC045802.1 BC065184.1 D85759.1 D86550.1 U52373.1 U58496.1 Z25423.1

9 DOTS entries:

DT.97806866 DT.100791954 DT.449194 DT.92438592 DT.75101238 DT.121141919 DT.121141927 DT.92044861

DT.92438591

Selected AceView cDNA sequences (see all 287):

AI424886 AI391600 BE790930 BM722758 CD557221 AA932861 W93238 AB015282

F12144 AA729988 AU119258 AA887600 NM_101395 NM_001396 AA933085 AI394170

NM_130436 AA704601 BI495555 AU280024 AL047452 BM553514 AL046742 BI753541

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for DYRK1A (see all 6) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14
SP1:											-
SP2:																			-																		-
SP3:																																					-
SP4:									-		-								-
SP5:									-		-		-						-

ECgene alternative splicing isoforms for DYRK1A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DYRK1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CGGTCTTATG

About this image

DYRK1A expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 6) fully expand


Brain (Nervous System) fully expand to see all 2 entries
Cerebellum

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Ovary (Reproductive System)
Oviduct

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Liver (Hepatobiliary System)
Liver Bud

DYRK1A Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

DYRK1A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.368240

UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627

Tissue specificity: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for DYRK1A gene from Selected species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dyrk1a^{1 , 5}	dual-specificity tyrosine-(Y)-phosphorylation regulated more^{1, 5}	93.93(n)¹ 99.21(a)¹		16 (55.30 cM)⁵ 13548¹ NM_001113389.1¹ NP_001106860.1¹ 94570010⁵
chicken (Gallus gallus)	Aves	DYRK1A¹	dual-specificity tyrosine-(Y)-phosphorylation regulated more	88.15(n) 96.42(a)		395233 NM_204550.1 NP_989881.1
lizard (Anolis carolinensis)	Reptilia	DYRK1A⁶	dual-specificity tyrosine-(Y)-phosphorylation regu...	98(a)	1 ↔ 1	3(140718560-140857690)
African clawed frog (Xenopus laevis)	Amphibia	dyrk1a-prov²	dual-specificity tyrosine-(Y)-phosphorylation regulated more	79.47(n)		BC044104.1
zebrafish (Danio rerio)	Actinopterygii	dyrk1aa¹	dual-specificity tyrosine-(Y)-phosphorylation regulated more	72.44(n) 82.83(a)		100005019 NM_001080689.1 NP_001074158.1
fruit fly (Drosophila melanogaster)	Insecta	mnb³	circadian rhythm protein serine/threonine kinase	82(a)		--
worm (Caenorhabditis elegans)	Secernentea	mbk-1³	serine/threonine kinase (2 domains)	70(a)		X(14855249-14860148) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	YAK1⁶	Serine-threonine protein kinase; component of a gl...	21(a)	1 → many	X(147967-150390) YJL141C
rice (Oryza sativa)	Liliopsida	Os.14313²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	78.14(n)		AK068489.1

ENSEMBL Gene Tree for DYRK1A (if available)
TreeFam Gene Tree for DYRK1A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for DYRK1A gene

DYRK2² DYRK3² HIPK1² ENSG00000272921² DYRK4² HIPK3² HIPK4² HIPK2²

DYRK1B²

14 SIMAP similar genes for DYRK1A using alignment to 4 protein entries: DYR1A_HUMAN (see all proteins):

MNB/DYRK DYRK1B CDK7 DYRK4 MOK DYRK2

DYRK3 HIPK1 SRPK3 MAPK14 MARK4 HIPK2

CDK4 ULK1

Find genes that share paralogs with DYRK1A About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73903928^1,2	C,F	--	24213563(+)	`GGGTAG/AGGAGA`	1	--	us2k¹		1		WA	2
rs192909760^1,2		--	24213590(+)	`GCCAGA/GATATT`	1	--	us2k¹		0	--	--	--	--
rs142807657^1,2		--	24213736(+)	`TTCCGA/CTGGAG`	1	--	us2k¹		0	--	--	--	--
rs73203936^1,2	C,F	--	24213773(+)	`GGAGAG/AGTTGG`	1	--	us2k¹		1		NA	120
rs147953387^1,2	C	--	24215031(+)	`GGGCG-/GGAGGAGG`	1	--	us2k¹		0	--	--	--	--
rs184099506^1,2		--	24215122(+)	`TGGTTA/GGTTTT`	1	--	us2k¹		0	--	--	--	--
rs200778467^1,2		--	24215123(+)	`GTTGG-/TTTTTT`	1	--	us2k¹		0	--	--	--	--
rs139482990^1,2		--	24215236(+)	`CTGCTA/GTCGCT`	1	--	us2k¹		0	--	--	--	--
rs188091808^1,2		--	24215340(+)	`TGCTGC/TTGCTG`	1	--	us2k¹		0	--	--	--	--
rs180905969^1,2		--	24215620(+)	`GCCGGC/TAGCAG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DYRK1A (38738092 - 38889753 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for DYRK1A: About this table

Variant ID	Type	Subtype	PubMed ID
esv1001034	CNV	Deletion	20482838
nsv834096	CNV	Loss	17160897

Human Gene Mutation Database (HGMD): DYRK1A

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 600855
OMIM disorders: 614104
UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627

Mental retardation, autosomal dominant 7 (MRD7) [MIM:614104]: A disease characterized by primary

microcephaly, severe mental retardation without speech, anxious autistic behavior, and dysmorphic features,

including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Mental retardation is

characterized by significantly below average general intellectual functioning associated with impairments in

adaptive behavior and manifested during the developmental period. Note=The disease is caused by mutations

affecting the gene represented in this entry

4 diseases for DYRK1A:
About MalaCards

mental retardation, autosomal dominant 7 down syndrome syndromic intellectual disability mental retardation, autosomal dominant 6

2 inferred disease relationships from the University of Copenhagen DISEASES database for DYRK1A:

Down syndrome Intellectual disability

Find genes that share disorders with DYRK1A About GenesLikeMe

6 Novoseek inferred disease relationships for DYRK1A gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
down syndrome	86	67	12618396 (4), 15694837 (3), 10812554 (3), 12814361 (2) (see all 33)
mental retardation	71.7	8	15906374 (1), 16959772 (1), 9918863 (1), 11877424 (1) (see all 8)
trisomy	45.4	7	11555628 (1), 16554754 (1), 19242551 (1)
memory impairment	41.3	4	17696169 (1), 17536841 (1)
alzheimers disease	37.6	8	19995442 (2), 18696092 (1), 17135279 (1), 19665384 (1) (see all 5)
neuropathology	36.6	1	12618396 (1)

Genetic Association Database (GAD): DYRK1A
Human Genome Epidemiology (HuGE) Navigator: DYRK1A (2 documents)

Export disorders for DYRK1A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for DYRK1A gene, integrated from 10 sources (see all 184):
(articles sorted by number of sources associating them with DYRK1A)

Utopia: connect your pdf to the dynamic
world of online information

Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome 'critical region'. (PubMed id 8975710)^{1, 2, 9} Song W.J....Kurnit D.W. (Genomics 1996)
DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort. (PubMed id 19995442)^{1, 4, 9} VA!zquez-Higuera J.L....Combarros O. (BMC Med. Genet. 2009)
Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. (PubMed id 10329007)^{1, 2, 9} Guimera J.... Pritchard M.A. (Genomics 1999)
Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. (PubMed id 9284911)^{1, 3, 9} Guimera J....Estivill X. (Cytogenet. Cell Genet. 1997)
Cloning of a human homolog of the Drosophila minibrain/rat Dyrk gene from 'the Down syndrome critical region' of chromosome 21. (PubMed id 8769099)^{1, 2, 9} Shindoh N....Shimizu N. (Biochem. Biophys. Res. Commun. 1996)
A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. (PubMed id 8872470)^{1, 2, 9} Guimera J.... Pritchard M.A. (Hum. Mol. Genet. 1996)
Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. (PubMed id 9037601)^{1, 2, 9} Ohira M....Ohki M. (Genome Res. 1997)
Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages. (PubMed id 21364930)^{1, 4} Bol S.M....van 't Wout A.B. (PLoS ONE 2011)
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. (PubMed id 21294719)^{1, 2} van Bon B.W.... de Vries B.B. (Clin. Genet. 2011)
A genome-wide association study of the metabolic syndrome in Indian Asian men. (PubMed id 20694148)^{1, 4} Zabaneh D. and Balding D.J. (PLoS ONE 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1859	HGNC: 3091	AceView: DYRK1A	Ensembl:ENSG00000157540	euGenes: HUgn1859
ECgene: DYRK1A	H-InvDB: DYRK1A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DYRK1A	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DYRK1A	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for DYRK1A gene
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Patent Information for DYRK1A gene:
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