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... See more...

Aliases for CFL1 Gene

Aliases for CFL1 Gene

  • Cofilin 1 2 3 5
  • Cofilin 1 (Non-Muscle) 2 3
  • 18 KDa Phosphoprotein 3 4
  • Cofilin-1 3 4
  • CFL 3 4
  • P18 3 4
  • Epididymis Secretory Protein Li 15 3
  • Cofilin, Non-Muscle Isoform 4
  • HEL-S-15 3
  • Cofilin 3
  • CFL1 5

External Ids for CFL1 Gene

Previous HGNC Symbols for CFL1 Gene

  • CFL

Previous GeneCards Identifiers for CFL1 Gene

  • GC11M068156
  • GC11M067303
  • GC11M065872
  • GC11M065397
  • GC11M065378
  • GC11M065622
  • GC11M061948

Summaries for CFL1 Gene

Entrez Gene Summary for CFL1 Gene

  • 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]

GeneCards Summary for CFL1 Gene

CFL1 (Cofilin 1) is a Protein Coding gene. Diseases associated with CFL1 include Corticobasal Degeneration and Smith-Lemli-Opitz Syndrome. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Immune response CCR3 signaling in eosinophils. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CFL2.

UniProtKB/Swiss-Prot Summary for CFL1 Gene

  • Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity (PubMed:11812157). In conjunction with the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (PubMed:15580268). Required for the centralization of the mitotic spindle and symmetric division of zygotes (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization in epithelial cells (PubMed:21834987). Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation (PubMed:23633677). Required for neural tube morphogenesis and neural crest cell migration (By similarity).

Gene Wiki entry for CFL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFL1 Gene

Genomics for CFL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFL1

Top Transcription factor binding sites by QIAGEN in the CFL1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • COMP1
  • E47
  • GATA-2
  • Lmo2
  • p53
  • Pax-6

Genomic Locations for CFL1 Gene

Latest Assembly
chr11:65,823,022-65,862,026
(GRCh38/hg38)
Size:
39,005 bases
Orientation:
Minus strand

Previous Assembly
chr11:65,622,144-65,625,651
(GRCh37/hg19 by Entrez Gene)
Size:
3,508 bases
Orientation:
Minus strand

chr11:65,590,493-65,629,497
(GRCh37/hg19 by Ensembl)
Size:
39,005 bases
Orientation:
Minus strand

Genomic View for CFL1 Gene

Genes around CFL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFL1 Gene

Proteins for CFL1 Gene

  • Protein details for CFL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23528-COF1_HUMAN
    Recommended name:
    Cofilin-1
    Protein Accession:
    P23528
    Secondary Accessions:
    • B3KUQ1
    • Q53Y87
    • Q9UCA2

    Protein attributes for CFL1 Gene

    Size:
    166 amino acids
    Molecular mass:
    18502 Da
    Quaternary structure:
    • Can bind G- and F-actin in a 1:1 ratio of cofilin to actin (PubMed:11812157). It is a major component of intranuclear and cytoplasmic actin rods (By similarity). Interacts with the subcortical maternal complex (SCMC) via interaction with TLE6 isoform 1 and NLRP5 (By similarity).
    • (Microbial infection) Interacts with human respiratory syncytial virus (HRSV) matrix protein; this interaction probably facilitates viral replication.

    Three dimensional structures from OCA and Proteopedia for CFL1 Gene

neXtProt entry for CFL1 Gene

Post-translational modifications for CFL1 Gene

  • Inactivated by phosphorylation on Ser-3. Phosphorylated on Ser-3 in resting cells (By similarity). Dephosphorylated by PDXP/chronophin; this restores its activity in promoting actin filament depolymerization. The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal (By similarity). Phosphorylated via a ARRB1-RAC1-LIMK1-PAK1 cascade upon active ligand stimulation of atypical chemokine receptor ACKR2.
  • Ubiquitination at Lys13, Lys73, Lys132, Lys144, and Lys164
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for CFL1 Gene

Domains & Families for CFL1 Gene

Gene Families for CFL1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CFL1 Gene

InterPro:
Blocks:
  • Actin-binding, cofilin/tropomyosin type

Suggested Antigen Peptide Sequences for CFL1 Gene

GenScript: Design optimal peptide antigens:
  • Cofilin, non-muscle isoform (COF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23528

UniProtKB/Swiss-Prot:

COF1_HUMAN :
  • Belongs to the actin-binding proteins ADF family.
Family:
  • Belongs to the actin-binding proteins ADF family.
genes like me logo Genes that share domains with CFL1: view

Function for CFL1 Gene

Molecular function for CFL1 Gene

UniProtKB/Swiss-Prot Function:
Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity (PubMed:11812157). In conjunction with the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (PubMed:15580268). Required for the centralization of the mitotic spindle and symmetric division of zygotes (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization in epithelial cells (PubMed:21834987). Required for the up-regulation of atypical chemokine receptor ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation (PubMed:23633677). Required for neural tube morphogenesis and neural crest cell migration (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).
GENATLAS Biochemistry:
cofilin 1,actin-binding protein,non-muscle type,depolymerisation factor of F-actin to G-actin

Phenotypes From GWAS Catalog for CFL1 Gene

Gene Ontology (GO) - Molecular Function for CFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 12361576
GO:0051015 actin filament binding IBA,ISS --
genes like me logo Genes that share ontologies with CFL1: view
genes like me logo Genes that share phenotypes with CFL1: view

Animal Models for CFL1 Gene

MGI Knock Outs for CFL1:
  • Cfl1 Cfl1<tm1.2Wit>

Animal Models for research

  • Taconic Biosciences Mouse Models for CFL1

miRNA for CFL1 Gene

miRTarBase miRNAs that target CFL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CFL1 Gene

Localization for CFL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFL1 Gene

Nucleus matrix. Cytoplasm, cytoskeleton. Cell projection, ruffle membrane. Peripheral membrane protein. Cytoplasmic side. Cell projection, lamellipodium membrane. Peripheral membrane protein. Cytoplasmic side. Cell projection, lamellipodium. Note=Colocalizes with the actin cytoskeleton in membrane ruffles and lamellipodia. Detected at the cleavage furrow and contractile ring during cytokinesis. Almost completely in nucleus in cells exposed to heat shock or 10% dimethyl sulfoxide.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFL1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 4
cytoskeleton 4
mitochondrion 3
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005634 nucleus IEA,TAS 16130169
GO:0005737 cytoplasm IDA,TAS 16130169
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CFL1: view

Pathways & Interactions for CFL1 Gene

PathCards logo

SuperPathways for CFL1 Gene

SuperPathway Contained pathways
1 Response to elevated platelet cytosolic Ca2+
2 Actin Nucleation by ARP-WASP Complex
.66
.41
.35
3 EPH-Ephrin signaling
.35
4 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
.49
.42
5 G-protein signaling RAC1 in cellular process
.37
genes like me logo Genes that share pathways with CFL1: view

Pathways by source for CFL1 Gene

10 GeneGo (Thomson Reuters) pathways for CFL1 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cytoskeleton remodeling CDC42 in cellular processes
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
15 Qiagen pathways for CFL1 Gene
  • Actin Nucleation and Branching
  • Actin-Based Motility by Rho Family GTPases
  • CCR3 Pathway in Eosinophils
  • CDC42 Pathway
  • EphrinA-EphR Signaling
1 Cell Signaling Technology pathway for CFL1 Gene

SIGNOR curated interactions for CFL1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP 21834987
GO:0007266 Rho protein signal transduction TAS 10436159
GO:0009615 response to virus IEP 16548883
GO:0016032 viral process IEA --
GO:0022604 regulation of cell morphogenesis IMP 21834987
genes like me logo Genes that share ontologies with CFL1: view

Drugs & Compounds for CFL1 Gene

(5) Drugs for CFL1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Dihydroartemisinin Approved, Experimental, Investigational Pharma Target, ligand 123
Dodecyldimethylamine N-oxide Experimental Pharma Target 0

(2) Additional Compounds for CFL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CFL1: view

Transcripts for CFL1 Gene

mRNA/cDNA for CFL1 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFL1

Alternative Splicing Database (ASD) splice patterns (SP) for CFL1 Gene

No ASD Table

Relevant External Links for CFL1 Gene

GeneLoc Exon Structure for
CFL1

Expression for CFL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CFL1 Gene

This gene is overexpressed in Whole Blood (x5.4).

Protein differential expression in normal tissues from HIPED for CFL1 Gene

This gene is overexpressed in NK cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CFL1 Gene



Protein tissue co-expression partners for CFL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFL1

SOURCE GeneReport for Unigene cluster for CFL1 Gene:

Hs.170622

mRNA Expression by UniProt/SwissProt for CFL1 Gene:

P23528-COF1_HUMAN
Tissue specificity: Widely distributed in various tissues.

Evidence on tissue expression from TISSUES for CFL1 Gene

  • Nervous system(5)
  • Lung(5)
  • Liver(4.9)
  • Skin(4.9)
  • Blood(4.9)
  • Intestine(4.8)
  • Pancreas(4.8)
  • Eye(4.7)
  • Kidney(4.4)
  • Stomach(4.3)
  • Bone(4.1)
  • Heart(3.6)
  • Muscle(3.6)
  • Lymph node(3.5)
  • Bone marrow(3.3)
  • Spleen(3.3)
  • Adrenal gland(3.1)
  • Thyroid gland(2.9)
  • Gall bladder(2.7)
genes like me logo Genes that share expression patterns with CFL1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CFL1 Gene

Orthologs for CFL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CFL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CFL1 29 30
  • 99.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CFL1 29 30
  • 94.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cfl1 29 16 30
  • 93.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CFL1 29 30
  • 93.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cfl1 29
  • 91.97 (n)
Lizard
(Anolis carolinensis)
Reptilia CFL1 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cfl1 29
  • 71.08 (n)
Zebrafish
(Danio rerio)
Actinopterygii cfl1 30
  • 75 (a)
OneToOne
Dr.28198 29
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COF1 30 32
  • 41 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4636 30
  • 28 (a)
ManyToMany
-- 30
  • 26 (a)
ManyToMany
Species where no ortholog for CFL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CFL1 Gene

ENSEMBL:
Gene Tree for CFL1 (if available)
TreeFam:
Gene Tree for CFL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFL1: view image
Alliance of Genome Resources:
Additional Orthologs for CFL1

Paralogs for CFL1 Gene

Paralogs for CFL1 Gene

(2) SIMAP similar genes for CFL1 Gene using alignment to 7 proteins:

  • COF1_HUMAN
  • E9PK25_HUMAN
  • E9PLJ3_HUMAN
  • E9PP50_HUMAN
  • E9PQB7_HUMAN
  • E9PS23_HUMAN
  • G3V1A4_HUMAN
genes like me logo Genes that share paralogs with CFL1: view

Variants for CFL1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CFL1 Gene

Variant ID Type Subtype PubMed ID
esv2759834 CNV gain 17122850
nsv1159905 CNV duplication 26073780
nsv555215 CNV loss 21841781

Variation tolerance for CFL1 Gene

Residual Variation Intolerance Score: 40.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFL1
Leiden Open Variation Database (LOVD)
CFL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFL1 Gene

Disorders for CFL1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for CFL1 Gene - From: COP and GCD

Additional Disease Information for CFL1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CFL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFL1 Gene

Publications for CFL1 Gene

  1. Mapping of human non-muscle type cofilin (CFL1) to chromosome 11q13 and muscle-type cofilin (CFL2) to chromosome 14. (PMID: 8800436) Gillett GT … Povey S (Annals of human genetics 1996) 2 3 4 22
  2. Association between CFL1 gene polymorphisms and spina bifida risk in a California population. (PMID: 17352815) Zhu H … Finnell RH (BMC medical genetics 2007) 3 22 40
  3. Dephosphorylation of cofilin in stimulated platelets: roles for a GTP-binding protein and Ca2+. (PMID: 8037689) Davidson MM … Haslam RJ (The Biochemical journal 1994) 3 4 22
  4. New host factors important for respiratory syncytial virus (RSV) replication revealed by a novel microfluidics screen for interactors of matrix (M) protein. (PMID: 25556234) Kipper S … Bajorek M (Molecular & cellular proteomics : MCP 2015) 3 4
  5. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. (PMID: 21834987) Bai SW … Ridley AJ (BMC biology 2011) 3 4

Products for CFL1 Gene

Sources for CFL1 Gene