1. Gene
  2. CFL1 - cofilin 1 Gene

CFL1 - cofilin 1 Gene

中文名称:肌动蛋白丝切蛋白 1

种属: Homo sapiens

同用名: CFL; cofilin; HEL-S-15

基因 ID: 1072 | 基因类型: protein coding

关于 CFL1

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,854,673-65,858,180 (from NCBI)

This gene has 15 transcripts (splice variants), 170 orthologues and 2 paralogues. Ubiquitous expression in duodenum (RPKM 413.9), colon (RPKM 411.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质可以以 pH 依赖性方式聚合和解聚 F-肌动蛋白和 G-肌动蛋白。 LIM 激酶增加该蛋白的磷酸化有助于 Rho 诱导的肌动蛋白细胞骨架重组。 Cofilin 是一种广泛分布的细胞内肌动蛋白调节蛋白,可结合和解聚丝状 F-肌动蛋白,并以 pH 依赖性方式抑制单体 G-肌动蛋白的聚合。它参与肌动蛋白-肌动蛋白丝切蛋白复合物从细胞质到细胞核的易位。[OMIM 提供,2004 年 4 月]

The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin Cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004]

CFL1 基因产物(1)

mRNA Protein Name
NM_005507.3 NP_005498.1 cofilin-1

CFL1 蛋白结构

Cofilin_ADF

Cofilin_ADF: Cofilin/tropomyosin-type actin-binding protein (22 - 147)

  • 0
  • 100
  • 166 a.a.
蛋白主名 其他名称

cofilin-1

18 kDa phosphoprotein

重组 CFL1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75682 Cofilin-1 Protein, Human (His) P23528 (M1-L166) ≥95%

关联疾病

疾病名称 别名
Smith-Lemli-Opitz Syndrome

SLOS

Rsh Syndrome

7-Dehydrocholesterol Reductase Deficiency

Slo Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

Lethal Acrodysgenital Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Smith-Opitz-Inborn Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz Syndrome, Type Ii

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Rattus norvegicus CFL1 RGD RGD:69285
Felis catus CFL1 VGNC VGNC:102749
Bos taurus CFL1 VGNC VGNC:27253
Mus musculus CFL1 MGD MGI:101757
Macaca mulatta CFL1 VGNC VGNC:100911
Canis familiaris CFL1 VGNC VGNC:56088
Others CFL1 NCBI