CFL1 cofilin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFL1provided by HGNC
Official Full Name: cofilin 1provided by HGNC
Primary source: HGNC:HGNC:1874
See related: Ensembl:ENSG00000172757 MIM:601442; AllianceGenome:HGNC:1874
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CFL; cofilin; HEL-S-15
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]
Expression: Ubiquitous expression in duodenum (RPKM 413.9), colon (RPKM 411.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65854673..65858180, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65849144..65852651, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65622144..65625651, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Distinct functional constraints driving conservation of the cofilin N-terminal regulatory tail.
Title: Distinct functional constraints driving conservation of the cofilin N-terminal regulatory tail.
CFL1 restores the migratory capacity of bone marrow mesenchymal stem cells in primary Sjogren's syndrome by regulating CCR1 expression.
Title: CFL1 restores the migratory capacity of bone marrow mesenchymal stem cells in primary Sjögren's syndrome by regulating CCR1 expression.
The Multifaceted Role of Cofilin in Neurodegeneration and Stroke: Insights into Pathogenesis and Targeting as a Therapy.
Title: The Multifaceted Role of Cofilin in Neurodegeneration and Stroke: Insights into Pathogenesis and Targeting as a Therapy.
Cofilin promotes tau pathology in Alzheimer's disease.
Title: Cofilin promotes tau pathology in Alzheimer's disease.
The Activation of the LIMK/Cofilin Signaling Pathway via Extracellular Matrix-Integrin Interactions Is Critical for the Generation of Mature and Vascularized Cardiac Organoids.
Title: The Activation of the LIMK/Cofilin Signaling Pathway via Extracellular Matrix-Integrin Interactions Is Critical for the Generation of Mature and Vascularized Cardiac Organoids.
Cofilin promotes vasculogenic mimicry by regulating the actin cytoskeleton in human breast cancer cells.
Title: Cofilin promotes vasculogenic mimicry by regulating the actin cytoskeleton in human breast cancer cells.
The phosphorylation level of Cofilin-1 is related to the pathological subtypes of gastric cancer.
Title: The phosphorylation level of Cofilin-1 is related to the pathological subtypes of gastric cancer.
Estradiol inhibits HIV-1BaL infection and induces CFL1 expression in peripheral blood mononuclear cells and endocervical mucosa.
Title: Estradiol inhibits HIV-1(BaL) infection and induces CFL1 expression in peripheral blood mononuclear cells and endocervical mucosa.
Identification of the most damaging nsSNPs in the human CFL1 gene and their functional and structural impacts on cofilin-1 protein.
Title: Identification of the most damaging nsSNPs in the human CFL1 gene and their functional and structural impacts on cofilin-1 protein.
Hhex inhibits cell migration via regulating RHOA/CDC42-CFL1 axis in human lung cancer cells.
Title: Hhex inhibits cell migration via regulating RHOA/CDC42-CFL1 axis in human lung cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (185)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	CCR5 expression inhibits HIV-1 gp120-induced LIMK1 activation and cofilin phosphorylation in CD4/CXCR4 expressing 293T cells	PubMed
	env	HIV-1 gp120-CXCR4 signaling triggers cofilin activation and actin reorganization, which are important for a post entry process leading to viral nuclear localization	PubMed
	env	The N-terminal leucine-rich repeat fragment of Slit2 inhibits HIV-1 gp120-induced phosphorylation of both LIMK1 and cofilin	PubMed
	env	Filamin-A-dependent activation of the RhoA-ROCK-LIMK-cofilin pathway is a major event in HIV-1 gp120-induced receptor clustering	PubMed
Nef	nef	HIV-1 Nef-induced LIMK1 activation and CFL1 phosphorylation are required for Nef-mediated inhibition of retinoid receptor function	PubMed
	nef	The HIV-1 Nef highly conserved valine-glycine-phenylalanine amino acid triplet (VGF) motif is important for Nef-PAK2 association and cofillin hyper-phosphorylation	PubMed
	nef	HIV-1 Nef inactivates cofilin by inducing its hyperphosphorylation via association with PAK2 activity	PubMed
Pr55(Gag)	gag	The cytoskeletal proteins ezrin, moesin, and cofilin are incorporated into HIV-1 particles, presumably through their interaction with actin which binds to the nucleocapsid domain of HIV-1 Gag	PubMed
Tat	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79826 (e-PCR)
- UniSTS:88150

RH48139 (e-PCR)
- UniSTS:44444

MARC_23793-23794:1027526010:3 (e-PCR)
- UniSTS:268775

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in actin cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in actin filament depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament depolymerization	NAS Non-traceable Author Statement more info	PubMed
involved_in actin filament fragmentation	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament severing	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of spindle localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation by host of viral process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of dendritic spine morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to virus	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone	IEA Inferred from Electronic Annotation more info
is_active_in lamellipodium	IBA Inferred from Biological aspect of Ancestor more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
located_in lamellipodium membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: cofilin-1

Names: 18 kDa phosphoprotein; cofilin 1 (non-muscle); epididymis secretory protein Li 15; p18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.