1. Gene
  2. CDC42BPB - CDC42 binding protein kinase beta Gene

CDC42BPB - CDC42 binding protein kinase beta Gene

中文名称:CDC42 结合蛋白激酶β

种属: Homo sapiens

同用名: MRCKB; CHOCNS

基因 ID: 9578 | 基因类型: protein coding

关于 CDC42BPB

Cytogenetic location: 14q32.32 Genomic coordinates (GRCh38): 14:102,932,380-103,057,549 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 24.8), fat (RPKM 20.9) and 24 other tissues.

功能概要

该基因编码丝氨酸/苏氨酸蛋白激酶家族的成员。编码的蛋白质包含一个类似于 PAK 激酶的 Cdc42/Rac 结合 p21 结合结构域。该蛋白的激酶结构域与强直性营养不良激酶相关 ROK 的激酶结构域最密切相关。对大鼠中相似基因的研究表明,这种激酶可能在细胞骨架重组中充当 Cdc42 的下游效应子。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]

CDC42BPB 基因产物(2)

mRNA Protein Name
NM_001411054.1 NP_001397983.1 serine/threonine-protein kinase MRCK beta isoform 2
NM_006035.4 NP_006026.3 serine/threonine-protein kinase MRCK beta isoform 1
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 protein kinase activity IDA
IDA: 通过直接分析推断
21949762 GOA
enables protein-containing complex binding IPI
IPI: 通过物理相互作用推断
25743393 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actomyosin structure organization IMP
IMP: 通过突变表型推断
18854160 GOA
involved in cell migration IMP
IMP: 通过突变表型推断
18854160 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
21949762 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actomyosin IDA
IDA: 通过直接分析推断
18854160 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

CDC42BPB 蛋白结构

Pkinase

Pkinase: Protein kinase domain (76 - 341)

DMPK_coil

DMPK_coil: DMPK coiled coil domain like (878 - 939)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (1026 - 1076)

CNH

CNH: CNH domain (1247 - 1509)

  • 0
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  • 1500
  • 1711 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase MRCK beta

CDC42 binding protein kinase beta (DMPK-like)

关联疾病

疾病名称 别名
Chilton-Okur-Chung Neurodevelopmental Syndrome

CHOCNS

Epidermolysis Bullosa Simplex 1a, Generalized Severe

Epidermolysis Bullosa Simplex, Dowling-Meara Type

Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

EBS1A

Ebsdm

Epidermolysis Bullosa Simplex Dowling-Meara Type

Epidermolysis Bullosa Simplex, Herpetiformis

Ebs-Dm

Epidermolysis Bullosa Simplex 1a, Dowling-Meara Type

Ebs-Gen Sev

Epidermolysis Bullosa Herpetiformis Dowling-Meara Type

Generalized Severe Epidermolysis Bullosa Simplex

Dowling-Meara Type Epidermolysis Bullosa Simplex

Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form

Autosomal Dominant Generalized Ebs, Severe Form

Epidermolysis Bullosa Simplex Herpetiformis

Dm-Ebs

Epidermolysis Bullosa Simplex, Generalized Severe

Epidermolysis Bullosa Herpetiformis, Dowling-Meara

Epidermolysis Bullosa Herpetiformis Dowling-Meara

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

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
Canis familiaris CDC42BPB VGNC VGNC:38998
Felis catus CDC42BPB VGNC VGNC:60658
Bos taurus CDC42BPB VGNC VGNC:27070
Mus musculus CDC42BPB MGD MGI:2136459
Macaca mulatta CDC42BPB VGNC VGNC:81369
Rattus norvegicus CDC42BPB RGD RGD:621753
Others CDC42BPB NCBI