1. Gene
  2. DYRK1A - dual specificity tyrosine phosphorylation regulated kinase 1A Gene

DYRK1A - dual specificity tyrosine phosphorylation regulated kinase 1A Gene

中文名称:双特异性酪氨酸磷酸化调节激酶 1A

种属: Homo sapiens

同用名: MNB; DYRK; HP86; MNBH; MRD7; DYRK1

基因 ID: 1859 | 基因类型: protein coding

关于 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.

功能概要

该基因编码双特异性酪氨酸磷酸化调节激酶 (DYRK) 家族的成员。该成员包含一个核靶向信号序列、一个蛋白激酶结构域、一个亮氨酸拉链基序和一个高度保守的 13 连续组氨酸重复序列。它催化其在丝氨酸/苏氨酸和酪氨酸残基上的自磷酸化。它可能在调节细胞增殖的信号通路中发挥重要作用,并可能参与大脑发育。该基因是果蝇 mnb (小脑) 基因和大鼠 DYRK 基因的同系物。它位于 21 号染色体的唐氏综合症关键区域,被认为是学习唐氏综合症相关缺陷的有力候选基因。该基因的选择性剪接会产生多个转录变体,这些变体在 5' UTR 或 3' 编码区彼此不同。这些变体编码至少五种不同的异构体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA polymerase II CTD heptapeptide repeat kinase activity IDA
IDA: 通过直接分析推断
25620562 GOA
enables actin binding IPI
IPI: 通过物理相互作用推断
24327345 GOA
enables cytoskeletal protein binding IPI
IPI: 通过物理相互作用推断
24327345 GOA
enables histone H3T45 kinase activity IDA
IDA: 通过直接分析推断
24820035 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
23665168 GOA
enables non-membrane spanning protein tyrosine kinase activity IDA
IDA: 通过直接分析推断
9748265 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14500717 GOA
enables protein serine kinase activity IDA
IDA: 通过直接分析推断
30773093 GOA
enables protein serine/threonine kinase activity IGI
IGI: 通过遗传相互作用推断
17906291 GOA
enables tubulin binding IPI
IPI: 通过物理相互作用推断
24327345 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in amyloid-beta formation IMP
IMP: 通过突变表型推断
25556849 GOA
involved in negative regulation of DNA methylation-dependent heterochromatin formation IDA
IDA: 通过直接分析推断
24820035 GOA
involved in peptidyl-serine phosphorylation IGI
IGI: 通过遗传相互作用推断
25556849 GOA
involved in peptidyl-tyrosine autophosphorylation IDA
IDA: 通过直接分析推断
24327345 GOA
acts upstream of or within peptidyl-tyrosine phosphorylation IDA
IDA: 通过直接分析推断
9748265 GOA
involved in positive regulation of RNA splicing IDA
IDA: 通过直接分析推断
28377597 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with actin filament IPI
IPI: 通过物理相互作用推断
24327345 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15694837 GOA
colocalizes with cytoskeleton IDA
IDA: 通过直接分析推断
24327345 GOA
colocalizes with microtubule IPI
IPI: 通过物理相互作用推断
24327345 GOA
colocalizes with neurofilament IPI
IPI: 通过物理相互作用推断
24327345 GOA
is active in nucleus IDA
IDA: 通过直接分析推断
25620562 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15694837 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DYRK1A 蛋白结构

Pkinase

Pkinase: Protein kinase domain (159 - 479)

  • 0
  • 200
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  • 600
  • 763 a.a.
蛋白主名 其他名称

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

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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