1. Gene
  2. LIMK1 - LIM domain kinase 1 Gene

LIMK1 - LIM domain kinase 1 Gene

中文名称:LIM 结构域激酶 1

种属: Homo sapiens

同用名: LIMK; LIMK-1

基因 ID: 3984 | 基因类型: protein coding

关于 LIMK1

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,083,804-74,122,525 (from NCBI)

This gene has 8 transcripts (splice variants), 262 orthologues, 23 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 15.7), spleen (RPKM 11.2) and 25 other tissues.

功能概要

大约有 40 种已知的真核 LIM 蛋白,以它们包含的 LIM 结构域命名。 LIM 结构域是高度保守的富含半胱氨酸的结构,包含 2 个锌指。尽管锌指通常通过与 DNA 或 RNA 结合发挥作用,但 LIM 基序可能介导蛋白质-蛋白质相互作用。 LIM 激酶 1 和 LIM 激酶 2 属于一个小亚家族,具有 2 个 N 末端 LIM 基序和一个 C 末端蛋白激酶结构域的独特组合。 LIMK1 是一种丝氨酸/苏氨酸激酶,可通过肌动蛋白结合因子 cofilin 的磷酸化和失活来调节肌动蛋白聚合。这种蛋白质在发育过程中普遍表达,并在许多与细胞骨架结构相关的细胞过程中发挥作用。这种蛋白质还可以刺激轴突生长,并可能在大脑发育中发挥作用。 LIMK1 半合子与威廉姆斯综合征的视觉空间建设性认知受损有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 2 月]

There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]

LIMK1 基因产物(3)

mRNA Protein Name
NM_016735.1
NM_002314.4 NP_002305.1 LIM domain kinase 1 isoform 1
NM_001204426.2 NP_001191355.1 LIM domain kinase 1 isoform 2

LIMK1 蛋白结构

LIM

LIM: LIM domain (25 - 79)

LIM

LIM: LIM domain (84 - 140)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (166 - 254)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (341 - 602)

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  • 647 a.a.
蛋白主名 其他名称

LIM domain kinase 1

LIM motif-containing protein kinase

关联疾病

疾病名称 别名
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Williams-Beuren Region Duplication Syndrome

Chromosome 7q11.23 Duplication Syndrome

7q11.23 Duplication Syndrome

7q11.23 Microduplication Syndrome

Wbs Duplication Syndrome

Somerville-Van Der Aa Syndrome

Dup(7)(Q11.23)

Trisomy 7q11.23

William-Beuren Region Duplication Syndrome

Chromosome 7q11.23 Duplication

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Supravalvular Aortic Stenosis

SVAS

Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular

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 LIMK1 MGD MGI:104572
Bos taurus LIMK1 VGNC VGNC:30890
Rattus norvegicus LIMK1 RGD RGD:62055
Canis familiaris LIMK1 VGNC VGNC:42681
Felis catus LIMK1 VGNC VGNC:68053
Macaca mulatta LIMK1 VGNC VGNC:74269
Others LIMK1 NCBI