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Aliases for CFL1 Gene

Aliases for CFL1 Gene

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

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 Deafness, Autosomal Dominant 20. Among its related pathways are ERK Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is CFL2.

UniProtKB/Swiss-Prot for CFL1 Gene

  • Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity. Regulates actin cytoskeleton dynamics. Important for normal progress through mitosis and normal cytokinesis. Plays a role in the regulation of cell morphology and cytoskeletal organization. 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:11812157, PubMed:15580268, PubMed:21834987, PubMed:23633677). Required for neural tube morphogenesis and neural crest cell migration (By similarity).

Gene Wiki entry for CFL1 Gene

Additional gene information for CFL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFL1 Gene

Genomics for CFL1 Gene

GeneHancer (GH) Regulatory Elements for CFL1 Gene

Promoters and enhancers for CFL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J065851 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +4.5 4542 12.2 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MUS81 CFL1 EIF1AD ENSG00000258297 POLA2 RBM14 SART1 PCNX3 RBM4 ZFPL1
GH11J065886 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.2 -33.4 -33432 18.4 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 FOSL1 FIBP DRAP1 RBM14 ENSG00000258297 KAT5 MUS81 SART1 SF3B2 RBM4
GH11J065636 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 +221.3 221344 8.2 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A YBX1 POLR2B ZNF207 ZNF143 SIPA1 RBM14 RBM4 EIF1AD SF1 ZFPL1 PCNX3 KAT5 SF3B2 POLA2
GH11J065927 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.4 -66.2 -66219 2.4 HDGF SMAD1 RB1 NFRKB ZBTB40 IRF4 TCF12 ZNF766 ZNF143 ETV6 EIF1AD CST6 CCDC85B FIBP CTSW SART1 FOSL1 CFL1 MUS81 BANF1
GH11J065940 Enhancer 1.1 Ensembl ENCODE 11.3 -79.3 -79342 2 PKNOX1 ATF1 ARNT TCF12 GATA2 FOS ATF7 ZNF263 NCOA1 ATF4 SART1 MUS81 EIF1AD ENSG00000258297 RBM14 SF3B2 RBM4 PCNX3 RCE1 KAT5
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for CFL1 Gene

Genomic Locations for CFL1 Gene
chr11:65,823,022-65,862,026
(GRCh38/hg38)
Size:
39,005 bases
Orientation:
Minus strand
chr11:65,590,493-65,629,497
(GRCh37/hg19)
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. It is a major component of intranuclear and cytoplasmic actin rods.

    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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

Suggested Antigen Peptide Sequences for CFL1 Gene

GenScript: Design optimal peptide antigens:

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. Regulates actin cytoskeleton dynamics. Important for normal progress through mitosis and normal cytokinesis. Plays a role in the regulation of cell morphology and cytoskeletal organization. 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:11812157, PubMed:15580268, PubMed:21834987, 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:0005102 signaling receptor binding IEA --
GO:0005515 protein binding IPI 12361576
GO:0051015 actin filament binding 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 Model Products

  • Taconic Biosciences Mouse Models for CFL1

CRISPR Products

miRNA for CFL1 Gene

miRTarBase miRNAs that target CFL1

Inhibitory RNA Products

  • 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

Gene Ontology (GO) - Cellular Components for CFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005622 intracellular IEA --
GO:0005634 nucleus TAS 16130169
GO:0005737 cytoplasm TAS,IDA 16130169
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CFL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFL1 Gene

Pathways & Interactions for CFL1 Gene

genes like me logo Genes that share pathways with CFL1: view

SIGNOR curated interactions for CFL1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IEA --
GO:0001755 neural crest cell migration IEA --
GO:0001842 neural fold formation IEA --
GO:0006468 protein phosphorylation IEA --
GO:0007010 cytoskeleton organization 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 202
Dihydroartemisinin Approved, Investigational Pharma Target, ligand 100
Lauryl Dimethylamine-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 :
(12) Additional mRNA sequences :
(2886) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CFL1 Gene

Cofilin 1 (non-muscle):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • 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
ECgene alternative splicing isoforms for
CFL1

Expression for CFL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of CFL1 Gene:

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

  • Lung(5)
  • Nervous system(5)
  • Blood(4.9)
  • Liver(4.9)
  • Skin(4.9)
  • Intestine(4.7)
  • Pancreas(4.7)
  • Eye(4.6)
  • Kidney(4.3)
  • Bone(4.1)
  • Stomach(4.1)
  • Muscle(3.5)
  • Lymph node(3.2)
  • Heart(3.1)
  • Bone marrow(3)
  • Spleen(2.9)
  • Adrenal gland(2.6)
  • Gall bladder(2.4)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with CFL1: view

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 34 33
  • 99.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CFL1 34 33
  • 94.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cfl1 16 34 33
  • 93.37 (n)
dog
(Canis familiaris)
Mammalia CFL1 34 33
  • 93.37 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cfl1 33
  • 91.97 (n)
lizard
(Anolis carolinensis)
Reptilia CFL1 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cfl1 33
  • 71.08 (n)
zebrafish
(Danio rerio)
Actinopterygii cfl1 34
  • 75 (a)
OneToOne
Dr.28198 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COF1 36 34
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4636 34
  • 28 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
Species where no ortholog for CFL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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

Sequence variations from dbSNP and Humsavar for CFL1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000036052 -- 65,856,309(-) G/A/T intron_variant
rs1000490980 -- 65,856,144(-) C/T coding_sequence_variant, synonymous_variant
rs1000856599 -- 65,860,136(-) T/C upstream_transcript_variant
rs1000963823 -- 65,858,287(-) C/G/T 5_prime_UTR_variant
rs1001567706 -- 65,858,358(-) G/C upstream_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFL1 Gene

Disorders for CFL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CFL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corticobasal degeneration
  • cbgd
deafness, autosomal dominant 20
  • dfna20
- elite association - COSMIC cancer census association via MalaCards
Search CFL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CFL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 44 58
  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 58
  4. 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 58
  5. HUNK suppresses metastasis of basal type breast cancers by disrupting the interaction between PP2A and cofilin-1. (PMID: 20133759) Quintela-Fandino M … Mak TW (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 22 58

Products for CFL1 Gene

  • Addgene plasmids for CFL1

Sources for CFL1 Gene

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