1. Gene
  2. CFL1 - cofilin 1 Gene

CFL1 - cofilin 1 Gene

Homo sapiens

Also known as CFL; cofilin; HEL-S-15

Gene ID: 1072 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

CFL1 Protein Structure

Cofilin_ADF

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

  • 0
  • 100
  • 166 a.a.
Protein Preferred Names Protein Names

cofilin-1

18 kDa phosphoprotein

Recombinant CFL1 Proteins

Cat. No. Product Name Accession Purity
HY-P75682 Cofilin-1 Protein, Human (His) P23528 (M1-L166) ≥95%

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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