DYRK1A - dual specificity tyrosine phosphorylation regulated kinase 1A Gene

Also Known as MNB; DYRK; HP86; MNBH; MRD7; DYRK1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1859

About DYRK1A

Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38): 21:37,365,573-37,526,358 (from NCBI)

This gene has 23 transcripts (splice variants), 236 orthologues, 12 paralogues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 11.6), testis (RPKM 9.5) and 25 other tissues.

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]

DYRK1A Products (18)

mRNA Protein Name
XM_005260933.6 XP_005260990.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X5
XM_006723977.4 XP_006724040.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X2
NM_001396.5 NP_001387.2 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1
XM_024452057.2 XP_024307825.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X4
XM_047440704.1 XP_047296660.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1
NM_130436.2 NP_569120.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2
XM_047440701.1 XP_047296657.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1
NM_101395.2 NP_567824.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 3
XM_047440702.1 XP_047296658.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1
XM_047440706.1 XP_047296662.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X3
XM_047440703.1 XP_047296659.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1
NM_001347723.2 NP_001334652.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 6
NM_130437.2
NM_001347721.2 NP_001334650.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2
XM_047440705.1 XP_047296661.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1
NM_001347722.2 NP_001334651.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2
NM_130438.2 NP_569122.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 5
XM_047440700.1 XP_047296656.1 dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1
Molecular Function GO Annotation Evidence Verweise Source
enables RNA polymerase II CTD heptapeptide repeat kinase activity IDA
IDA: Inferred from direct assay
25620562 GOA
enables actin binding IPI
IPI: Inferred from physical interaction
24327345 GOA
enables cytoskeletal protein binding IPI
IPI: Inferred from physical interaction
24327345 GOA
enables histone H3T45 kinase activity IDA
IDA: Inferred from direct assay
24820035 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
23665168 GOA
enables non-membrane spanning protein tyrosine kinase activity IDA
IDA: Inferred from direct assay
9748265 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14500717 GOA
enables protein serine kinase activity IDA
IDA: Inferred from direct assay
30773093 GOA
enables protein serine/threonine kinase activity IGI
IGI: Inferred from genetic interaction
17906291 GOA
enables tubulin binding IPI
IPI: Inferred from physical interaction
24327345 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in amyloid-beta formation IMP
IMP: Inferred from mutant phenotype
25556849 GOA
involved in negative regulation of DNA methylation-dependent heterochromatin formation IDA
IDA: Inferred from direct assay
24820035 GOA
involved in peptidyl-serine phosphorylation IGI
IGI: Inferred from genetic interaction
25556849 GOA
involved in peptidyl-tyrosine autophosphorylation IDA
IDA: Inferred from direct assay
24327345 GOA
acts upstream of or within peptidyl-tyrosine phosphorylation IDA
IDA: Inferred from direct assay
9748265 GOA
involved in positive regulation of RNA splicing IDA
IDA: Inferred from direct assay
28377597 GOA
Cellular Component GO Annotation Evidence Verweise Source
colocalizes with actin filament IPI
IPI: Inferred from physical interaction
24327345 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
15694837 GOA
colocalizes with cytoskeleton IDA
IDA: Inferred from direct assay
24327345 GOA
colocalizes with microtubule IPI
IPI: Inferred from physical interaction
24327345 GOA
colocalizes with neurofilament IPI
IPI: Inferred from physical interaction
24327345 GOA
is active in nucleus IDA
IDA: Inferred from direct assay
25620562 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15694837 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DYRK1A Protein Structure

Pkinase

Pkinase: Protein kinase domain (159 - 479)

  • 0
  • 200
  • 400
  • 600
  • 763 a.a.
Protein Preferred Names Protein Names

dual specificity tyrosine-phosphorylation-regulated kinase 1A

  • 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

DYRK1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
DYRK1A Q13627 IGF2BP2 Homo sapiens Q9Y6M1 36950384
Intra
DYRK1A Q13627 IGF2BP1 Homo sapiens Q9NZI8 36950384
Intra
DYRK1A Q13627 IGF2BP3 Homo sapiens O00425 36950384
Intra
DYRK1A Q13627 KPRP Homo sapiens Q5T749 32296183
Intra
DYRK1A Q13627 ELAVL2 Homo sapiens Q12926 36950384
Intra
DYRK1A Q13627 FAM53C Homo sapiens Q9NYF3 36950384
Intra
DYRK1A Q13627 FAM53C Homo sapiens Q9NYF3 35914814
Intra
DYRK1A Q13627 FAM53C Homo sapiens Q9NYF3
TAP
23602568
Intra
DYRK1A Q13627 TROAP Homo sapiens Q12815
TAP
23602568
Intra
DYRK1A Q13627 TROAP Homo sapiens Q12815 26949739
Intra
DYRK1A Q13627 TRIP12 Homo sapiens Q14669 36950384
Intra
DYRK1A Q13627 DYNLL1 Homo sapiens P63167 35914814
Intra
DYRK1A Q13627 DYNLL1 Homo sapiens P63167
TAP
23602568
Intra
DYRK1A Q13627 DYNLL1 Homo sapiens P63167 36950384
Intra
DYRK1A Q13627 TRAF2 Homo sapiens Q12933 35914814
Intra
DYRK1A Q13627 DCAF7 Homo sapiens P61962 32707033
Intra
DYRK1A Q13627 DCAF7 Homo sapiens P61962
TAP
23602568
Intra
DYRK1A Q13627 DCAF7 Homo sapiens P61962 36950384
Intra
DYRK1A Q13627 FMR1 Homo sapiens Q06787 36950384
Intra
DYRK1A Q13627 RB1 Homo sapiens P06400 23602568
Intra
DYRK1A Q13627 RB1 Homo sapiens P06400 32707033
Intra
DYRK1A Q13627 RB1 Homo sapiens P06400
TAP
23602568
Intra
DYRK1A Q13627 LZTS2 Homo sapiens Q9BRK4 26949739
Intra
DYRK1A Q13627 LZTS2 Homo sapiens Q9BRK4
TAP
23602568
Intra
DYRK1A Q13627 LZTS2 Homo sapiens Q9BRK4 23602568
Intra
DYRK1A Q13627 SATB1 Homo sapiens Q01826 36950384
Intra
DYRK1A Q13627 ELAVL3 Homo sapiens Q14576 36950384
Intra
DYRK1A Q13627 ZMYND8 Homo sapiens Q9ULU4 36950384
Intra
DYRK1A Q13627 USP54 Homo sapiens Q70EL1 35914814
Intra
DYRK1A Q13627 RBL1 Homo sapiens P28749 32707033
Intra
DYRK1A Q13627 RBL1 Homo sapiens P28749
TAP
23602568
Intra
DYRK1A Q13627 RBL1 Homo sapiens P28749 23602568
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Alzheimer Disease, Familial, 1
  • Alzheimer Disease

  • Alzheimer'S Disease

  • Presenile And Senile Dementia

  • AD1

  • Alzheimer Disease, Susceptibility To

  • Alzheimer Disease, Late-Onset, Susceptibility To

  • Alzheimer Disease 1, Familial

  • AD

  • Familial Alzheimer Disease

  • Alzheimer Disease, Late-Onset

  • Alzheimers Dementia

  • Alzheimer Dementia

  • Alzheimer Sclerosis

  • Alzheimer Syndrome

  • Alzheimer-Type Dementia

  • Dat

  • Primary Senile Degenerative Dementia

  • Sdat

  • Alzheimer Disease 1

  • Autosomal Dominant Alzheimer Disease

  • Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

  • Late Onset Alzheimer Disease

  • Alzheimers Disease

  • Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

  • Late-Onset Alzheimers Disease

  • Alzheimer'S Disease Pathway Kegg

  • Dementia Due To Alzheimer'S Disease

  • Alzheimer Disease Type 1

  • Alzheimers

Intellectual Developmental Disorder, Autosomal Dominant 7
  • MRD7

  • Mental Retardation, Autosomal Dominant 7

  • Autosomal Dominant Non-Syndromic Intellectual Disability 7

  • Dyrk1a Syndrome

  • Autosomal Dominant Intellectual Developmental Disorder 7

  • Autosomal Dominant Mental Retardation 7

  • Mental Retardation, Autosomal Dominant, Type 7

Autosomal Dominant Intellectual Developmental Disorder
  • Autosomal Dominant Mental Retardation

  • Autosomal Dominant Non-Syndromic Mental Retardation

  • Autosomal Dominant Non-Syndromic Intellectual Disability

  • Mental Retardation, Autosomal Dominant

Non-Specific Syndromic Intellectual Disability
  • Complex Neurodevelopmental Disorder

Primary Microcephaly
  • True Microcephaly

  • Microcephaly, Primary

Chromosomal Duplication Syndrome
Myeloproliferative Syndrome, Transient
  • Transient Abnormal Myelopoiesis

  • Transient Myeloproliferative Syndrome

  • Transient Myeloproliferative Disease

  • Mst

  • Tam

  • Leukemia, Transient, Of Down Syndrome

  • Tmd

  • Leukemia, Transient

  • Transient Leukemia

  • Transient Leukemia Of Down Syndrome

Acute Dacryocystitis
  • Dacryocystitis - Acute

Dyrk1a-Related Intellectual Disability Syndrome Due To 21q22.13q22.2 Microdeletion
  • 21q22.13q22.2 Microdeletion Syndrome

  • Del(21)(Q22.13q22.2)

  • Monosomy 21q22.13q22.2

Specific Developmental Disorder
Enophthalmos
Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Abdominal Obesity-Metabolic Syndrome 3
  • AOMS3

  • Central Obesity, Type 2 Diabetes, Hypertension, And Early-Onset Coronary Artery Disease

  • Obesity, Abdominal, Metabolic Syndrome, Type 3

Chromosomal Disease
  • Chromosomal Disorders

  • Congenital Chromosomal Disease

Pick Disease Of Brain
  • Pick Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Pick'S Disease

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Male Urethral Cancer
  • Male Urethral Malignant Neoplasm

Dyrk1a-Related Intellectual Disability Syndrome
  • Dyrk1a Syndrome

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Microphthalmia
  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye

Down Syndrome
  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21

Intellectual Disability Syndrome Due To A Dyrk1a Point Mutation
  • Dyrk1a-Related Intellectual Disability Syndrome Due To A Point Mutation

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus DYRK1A MGD MGI:1330299
Bos taurus DYRK1A VGNC VGNC:28279
Macaca mulatta DYRK1A VGNC VGNC:72015
Canis familiaris DYRK1A VGNC VGNC:40155
Rattus norvegicus DYRK1A RGD RGD:2528
Felis catus DYRK1A VGNC VGNC:61685
Others DYRK1A NCBI