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

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Summary

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]

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Genomic context

Location :: 21q22.13

Sequence :: Chromosome: 21; NC_000021.8 (38739859..38887679)

See DYRK1A in Epigenomics, MapViewer

Chromosome 21 - NC_000021.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Dyrk1a has a role in megakaryoblastic leukemia in Down syndrome and the murine model
Title: Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome.
Down syndrome subjects may exhibit not only upregulation of total DYRK1A, but also more subtle differences in phosphorylation levels of this kinase
Title: Form of dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A nonphosphorylated at tyrosine 145 and 147 is enriched in the nuclei of astroglial cells, adult hippocampal progenitors, and some cholinergic axon terminals.
The inhibitory effect of Dyrk1A on synaptic vesicle endocytosis is confirmed in neuronal cultures derived from transgenic mice overexpressing Dyrk1A at levels found in Down syndrome.
Title: Overexpression of Dyrk1A causes the defects in synaptic vesicle endocytosis.
In response to DNA damage, p53 induces the expression of miR-1246 which, in turn, reduces the level of DYRK1A, a Down syndrome-associated protein kinase.
Title: p53 downregulates Down syndrome-associated DYRK1A through miR-1246.
a direct link between Dyrk1A and RCAN1 in the Caln-NFAT signaling and Tau hyperphosphorylation pathways
Title: Regulation of RCAN1 protein activity by Dyrk1A protein-mediated phosphorylation.
DYRK1A binds specifically to WDR68 in cells; the binding, but not the phosphorylation event, induces the nuclear translocation of WDR68.
Title: DYRK1A binds to an evolutionarily conserved WD40-repeat protein WDR68 and induces its nuclear translocation.
REVIEW: role of DYRK1A in neurodegenerative diseases
Title: The role of DYRK1A in neurodegenerative diseases.
REVIEW: DYRK1A as a multiple regulator of neuronal development
Title: MNB/DYRK1A as a multiple regulator of neuronal development.
REVIEW: insights into DYRK1A function
Title: Recent insights into the function of DYRK1A.
REVIEW: Activation, regulation, and inhibition of DYRK1A
Title: Activation, regulation, and inhibition of DYRK1A.

Submit: New GeneRIF Correction See all (54)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study of the metabolic syndrome in Indian Asian men.

Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages.

Mental retardation, autosomal dominant 7

MIM: 614104

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001387.2	NP_004370.1	CREB1	BIND	PubMed	DYRK1A interacts with and phosphorylates CREB. This interaction was modeled on a demonstrated interaction between human DYRK1A and CREB from rat.
NP_001387.2	NP_055574.2	PHYHIP	BIND	PubMed	DYRK1A interacts with PAHX-AP1.
Q13627	Q96S94	CCNL2	HPRD	PubMed
Q13627	P16220	CREB1	HPRD	PubMed
Q13627	Q13627	DYRK1A	HPRD	PubMed
Q13627	Q12778	FOXO1	HPRD	PubMed
Q13627	P08151	GLI1	HPRD	PubMed
Q13627	Q92561	PHYHIP	HPRD	PubMed
Q13627	O75533	SF3B1	HPRD	PubMed
Q13627	P31946	YWHAB	HPRD	PubMed
Q13627	P62258	YWHAE	HPRD	PubMed
Q13627	P61981	YWHAG	HPRD	PubMed
BioGRID:108192	BioGRID:123566	CCNL2	BioGRID	PubMed	Biochemical Activity
BioGRID:108192	BioGRID:116302	CLASRP	BioGRID	PubMed	Biochemical Activity
BioGRID:108192	BioGRID:115532	DCAF7	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:108192	BioGRID:108099	DNM1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108192	BioGRID:109271	HIST1H2BB	BioGRID	PubMed	Biochemical Activity
BioGRID:108192	BioGRID:113946	HIST1H3A	BioGRID	PubMed	Biochemical Activity
BioGRID:108192	BioGRID:113955	HIST1H4A	BioGRID	PubMed	Biochemical Activity
BioGRID:108192	BioGRID:109072	SFN	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108192	BioGRID:112324	SRSF1	BioGRID	PubMed	Biochemical Activity
BioGRID:108192	BioGRID:112327	SRSF4	BioGRID	PubMed	Biochemical Activity
BioGRID:108192	BioGRID:112328	SRSF5	BioGRID	PubMed	Biochemical Activity
BioGRID:108192	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108192	BioGRID:113364	YWHAG	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
kinase activity	IEA Inferred from Electronic Annotation more info
non-membrane spanning protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase activity	TAS Traceable Author Statement more info	PubMed
protein self-association	IEA Inferred from Electronic Annotation more info
protein self-association	ISS Inferred from Sequence or Structural Similarity more info
protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
protein tyrosine kinase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
mitotic cell cycle	TAS Traceable Author Statement more info
nervous system development	TAS Traceable Author Statement more info	PubMed
peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
protein autophosphorylation	IEA Inferred from Electronic Annotation more info
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

Component	Evidence Code	Pubs
nuclear speck	IEA Inferred from Electronic Annotation more info
nuclear speck	ISS Inferred from Sequence or Structural Similarity more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IEA Inferred from Electronic Annotation more info
nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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

EC 2.7.12.1

NP_567824.1

EC 2.7.12.1

NP_569120.1

EC 2.7.12.1

NP_569122.1

EC 2.7.12.1

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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

NG_009366.1 RefSeqGene

Range

5001..152821

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

Related

ENSP00000381932, OTTHUMP00000109094, ENST00000398960, OTTHUMT00000194804

Conserved Domains (2) summary

smart00220
Location:159 – 398
Blast Score: 582

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl09925
Location:159 – 479
Blast Score: 498

PKc_like; Protein Kinases, catalytic domain
NM_101395.2 → NP_567824.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 3

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:159 – 398
Blast Score: 563

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl09925
Location:159 – 479
Blast Score: 483

PKc_like; Protein Kinases, catalytic domain
NM_130436.2 → NP_569120.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2

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

ENSP00000340373, OTTHUMP00000109091, ENST00000339659, OTTHUMT00000194801

Conserved Domains (2) summary

smart00220
Location:150 – 389
Blast Score: 583

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl09925
Location:150 – 470
Blast Score: 499

PKc_like; Protein Kinases, catalytic domain
NM_130438.2 → NP_569122.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 5

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, OTTHUMP00000174799, ENST00000398956, OTTHUMT00000268824

Conserved Domains (2) summary

smart00220
Location:159 – 398
Blast Score: 558

S_TKc; Serine/Threonine protein kinases, catalytic domain

cl09925
Location:159 – 479
Blast Score: 478

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000021.8 Reference GRCh37.p5 Primary Assembly

Range

38739859..38887679

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000153.1 Alternate HuRef

Range

24215875..24363782

Download

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.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP001413.1	None
genomic	AP001421.1	None
genomic	AP001428.1	None
genomic	AP001437.1 (46524..91527)	None
genomic	CH471079.2	EAX09702.1
		EAX09703.1
		EAX09704.1
		EAX09705.1
		EAX09706.1
		EAX09707.1
		EAX09708.1
mRNA	AB015282.1	BAA33975.1
mRNA	AB015283.1	BAA33976.1
mRNA	AB015284.1	BAA33977.1
mRNA	AF108830.1	AAD31169.1
mRNA	AJ001870.1	CAA05059.1
mRNA	AJ001871.1	CAA05060.1
mRNA	AK301752.1	BAG63214.1
mRNA	BC030515.1	None
mRNA	BC045802.1	None
mRNA	BC065184.1	None
mRNA	D85759.1	BAA12866.1
mRNA	D86550.1	BAA13110.1
mRNA	U52373.1	AAB18639.1
mRNA	U58496.1	AAC50939.1
mRNA	Z25423.1	CAA80910.1
other-genetic	BC156309.1	AAI56310.1
other-genetic	BC172505.1	AAI72505.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O60770	GenPept	UniProtKB/TrEMBL:O60770
O94789	GenPept	UniProtKB/TrEMBL:O94789
Q13627.2	GenPept	UniProtKB/Swiss-Prot:Q13627
Q15446	GenPept	UniProtKB/TrEMBL:Q15446
Q76N25	GenPept	UniProtKB/TrEMBL:Q76N25