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  2. DOCK3 - dedicator of cytokinesis 3 Gene

DOCK3 - dedicator of cytokinesis 3 Gene

中文名称:胞质分裂的奉献者 3

种属: Homo sapiens

同用名: PBP; MOCA; NEDIDHA

基因 ID: 1795 | 基因类型: protein coding

关于 DOCK3

Cytogenetic location: 3p21.2 Genomic coordinates (GRCh38): 3:50,674,927-51,384,198 (from NCBI)

This gene has 1 transcript (splice variant), 271 orthologues, 10 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 7.9), thyroid (RPKM 4.0) and 6 other tissues.

功能概要

该基因在中枢神经系统 (CNS) 中特异性表达。它编码鸟嘌呤核苷酸交换因子 (GEF) DOCK (胞质分裂因子) 家族的成员。这种蛋白质是胞质分裂 3 (DOCK3) 的驱动因子,也称为细胞粘附调节剂 (MOCA) 和早老素结合蛋白 (PBP) 。 DOCK3 和 DOCK1、-2 和 -4 在其 DHR-2 (DOCK 同源区 2) 结构域中共享 GEF 活性所需的几个保守氨基酸,并直接结合 WAVE 蛋白 [Wiskott-Aldrich 综合征蛋白 (WASP) 家族 Verprolin 同源蛋白] 通过它们的 DHR-1 结构域。 DOCK3 通过刺激 WAVE 复合物的膜募集并激活小 G 蛋白 Rac1 来诱导 CNS 中的轴突生长。该基因通过复杂的染色体重排与注意力缺陷多动障碍样表型相关。[RefSeq 提供,2010 年 8 月]

This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved Amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]

DOCK3 基因产物(1)

mRNA Protein Name
NM_004947.5 NP_004938.1 dedicator of cytokinesis protein 3

DOCK3 蛋白结构

SH3_2

SH3_2: Variant SH3 domain (10 - 61)

DOCK-C2

DOCK-C2: C2 domain in Dock180 and Zizimin proteins (416 - 609)

DHR-2

DHR-2: Dock homology region 2 (1444 - 1627)

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  • 1600
  • 2030 a.a.
蛋白主名 其他名称

dedicator of cytokinesis protein 3

modifier of cell adhesion

DOCK3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DOCK3 Q8IZD9 ARHGAP5 Homo sapiens Q13017-1
Anti Tag CoIP
32203420
种属内
DOCK3 Q8IZD9 NCK1 Homo sapiens P16333
Peptide Array
17474147
种属内
DOCK3 Q8IZD9 PLEKHF2 Homo sapiens Q9H8W4
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia

NEDIDHA

Neurodevelopmental Disorder, Impaired Intellectual Development, Hypotonia, And Ataxia

Hypotonia
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Complex Chromosomal Rearrangement
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

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

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
Bos taurus DOCK3 VGNC VGNC:50146
Canis familiaris DOCK3 VGNC VGNC:40047
Mus musculus DOCK3 MGD MGI:2429763
Macaca mulatta DOCK3 VGNC VGNC:71967
Felis catus DOCK3 VGNC VGNC:61572
Rattus norvegicus DOCK3 RGD RGD:1306677