Endometriosis Knowledgebase

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Gene id

1072

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CFL1 Gene UCSC Ensembl

Aliases

CFL, HEL-S-15, cofilin

Gene name

cofilin 1

Alternate names

cofilin-1, 18 kDa phosphoprotein, cofilin 1 (non-muscle), cofilin, non-muscle isoform, epididymis secretory protein Li 15, p18,

Gene location

11q13.1 (65858332: 65854810) Exons: 4 NC_000011.10

Gene summary(Entrez)

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]

OMIM

601442

Protein Summary

Protein general information

P23528

Name: Cofilin 1 (18 kDa phosphoprotein) (p18) (Cofilin, non muscle isoform)

Length: 166 Mass: 18,502

Tissue specificity: Widely distributed in various tissues.

Sequence

MASGVAVSDGVIKVFNDMKVRKSSTPEEVKKRKKAVLFCLSEDKKNIILEEGKEILVGDVGQTVDDPYATFVKML
PDKDCRYALYDATYETKESKKEDLVFIFWAPESAPLKSKMIYASSKDAIKKKLTGIKHELQANCYEEVKDRCTLA
EKLGGSAVISLEGKPL

Structural information

Protein Domains	ADF-H. (4-153)
Motifs	Nuclear localization(30-34)
Interpro:	IPR002108 IPR029006 IPR017904 IPR027234
Prosite:	PS51263
Pfam:	PF00241
CDD:	cd11286
PDB:	1Q8G 1Q8X 3J0S 4BEX 5HVK 5L6W
PDBsum:	1Q8G 1Q8X 3J0S 4BEX 5HVK 5L6W
DIP:	33000
MINT:	4999473
STRING:	ENSP00000309629;

Other Databases

GeneCards: CFL1; Malacards: CFL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0007010	cytoskeleton organization	IMP	biological_process
GO:0007266	Rho protein signal transd uction	TAS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0015629	actin cytoskeleton	IEA	cellular_component
GO:0016020	membrane	IDA	cellular_component
GO:0016363	nuclear matrix	IEA	cellular_component
GO:0022604	regulation of cell morpho genesis	IMP	biological_process
GO:0030036	actin cytoskeleton organi zation	TAS	biological_process
GO:0030042	actin filament depolymeri zation	IEA	biological_process
GO:0031258	lamellipodium membrane	IEA	cellular_component
GO:0031982	vesicle	IDA	cellular_component
GO:0032587	ruffle membrane	IEA	cellular_component
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0044794	positive regulation by ho st of viral process	IMP	biological_process
GO:0061001	regulation of dendritic s pine morphogenesis	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0003779	actin binding	IEA	molecular_function
GO:0003779	actin binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005622	intracellular	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005856	cytoskeleton	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0007010	cytoskeleton organization	IMP	biological_process
GO:0007266	Rho protein signal transd uction	TAS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0015629	actin cytoskeleton	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IDA	cellular_component
GO:0016363	nuclear matrix	IEA	cellular_component
GO:0022604	regulation of cell morpho genesis	IMP	biological_process
GO:0030036	actin cytoskeleton organi zation	TAS	biological_process
GO:0030042	actin filament depolymeri zation	IEA	biological_process
GO:0031258	lamellipodium membrane	IEA	cellular_component
GO:0031982	vesicle	IDA	cellular_component
GO:0032587	ruffle membrane	IEA	cellular_component
GO:0042995	cell projection	IEA	cellular_component
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0044794	positive regulation by ho st of viral process	IMP	biological_process
GO:0061001	regulation of dendritic s pine morphogenesis	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005634	nucleus	TAS	cellular_component
GO:0005737	cytoplasm	TAS	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0007010	cytoskeleton organization	IMP	biological_process
GO:0007266	Rho protein signal transd uction	TAS	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0016020	membrane	IDA	cellular_component
GO:0022604	regulation of cell morpho genesis	IMP	biological_process
GO:0030036	actin cytoskeleton organi zation	TAS	biological_process
GO:0031982	vesicle	IDA	cellular_component
GO:0043066	negative regulation of ap optotic process	TAS	biological_process
GO:0044794	positive regulation by ho st of viral process	IMP	biological_process
GO:0061001	regulation of dendritic s pine morphogenesis	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa04810  Regulation of actin cytoskeleton
hsa04360  Axon guidance
hsa05133  Pertussis
hsa04666  Fc gamma R-mediated phagocytosis

Diseases

Associated diseases	References
Endometriosis	PMID: 22276910
Neural tube defects	PMID: 17352815
Endometriosis	INFBASE20646534
Unexplained infertility	PMID: 25405865

PubMed references

PMID	Condition	Population details	Associated_genes	Abstract
22276910	Endometrio sis	100 (50 endomet riosis, 50 cont rols)	COX-2 BRAF NRAS CFL1 MAT2A SEPT9 ATAD3A CADM2 NAA15 and CCDC21	Show abstract
20713416	Endometrio sis	60 (30 patients with advanced ovarian EMs (ES Cs, Stromal Cel ls of eutopic e ndometria in En dometriosis pat ients), 30 cont rol patients wi thout EMs (NSCs , Stromal Cells of eutopic end ometria in Non- endometriosis p atients))	CFL1	Show abstract
20646534	Endometrio sis	40 (20 cases wi th stage III or IV endometrios is were obtaine d by laparoscop ic or laparotom y surgery (endo metriosis group ), 20 cases of eutopic endomet rium from patie nts with cervic al cancer in si tu (control gro up))	cofilin-1	Show abstract