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Q9Y281 (COF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cofilin-2
Alternative name(s):
Cofilin, muscle isoform
Gene names
Name:CFL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length166 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Controls reversibly actin polymerization and depolymerization in a pH-sensitive manner. It has the ability to bind G- and F-actin in a 1:1 ratio of cofilin to actin. It is the major component of intranuclear and cytoplasmic actin rods By similarity.

Subcellular location

Nucleus matrix By similarity. Cytoplasmcytoskeleton By similarity.

Tissue specificity

Isoform CFL2b is expressed predominantly in skeletal muscle and heart. Isoform CFL2a is expressed in various tissues.

Post-translational modification

The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.

Involvement in disease

Nemaline myopathy 7 (NEM7) [MIM:610687]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14

Sequence similarities

Belongs to the actin-binding proteins ADF family.

Contains 1 ADF-H domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ACTBP607093EBI-351218,EBI-353944
ACTG1P632612EBI-351218,EBI-351292

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Isoforms are identical at the level of the protein sequence.
Isoform CFL2b (identifier: Q9Y281-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform CFL2a (identifier: Q9Y281-2)

The sequence of this isoform is not available.
Isoform 3 (identifier: Q9Y281-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 166165Cofilin-2
PRO_0000214907

Regions

Domain4 – 153150ADF-H
Motif30 – 345Nuclear localization signal Potential

Amino acid modifications

Modified residue21N-acetylalanine Ref.6 Ref.8 Ref.9 Ref.11 Ref.12
Modified residue31Phosphoserine Ref.7 Ref.9
Modified residue61Phosphothreonine By similarity

Natural variations

Alternative sequence1 – 1717Missing in isoform 3.
VSP_046831
Natural variant351A → T in NEM7; protein is less soluble when expressed in Escherichia coli. Ref.14
VAR_031989
Natural variant471I → M in a breast cancer sample; somatic mutation. Ref.13
VAR_036458

Sequences

Sequence LengthMass (Da)Tools
Isoform CFL2b [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 48B6CDCCAE9FE1CC

FASTA16618,737
        10         20         30         40         50         60 
MASGVTVNDE VIKVFNDMKV RKSSTQEEIK KRKKAVLFCL SDDKRQIIVE EAKQILVGDI 

        70         80         90        100        110        120 
GDTVEDPYTS FVKLLPLNDC RYALYDATYE TKESKKEDLV FIFWAPESAP LKSKMIYASS 

       130        140        150        160 
KDAIKKKFTG IKHEWQVNGL DDIKDRSTLG EKLGGNVVVS LEGKPL 

« Hide

Isoform CFL2a (Sequence not available).
Isoform 3 [UniParc].

Checksum: 208CA2A540FB2A78
Show »

FASTA14916,917

References

« Hide 'large scale' references
[1]"Isolation of two isoforms of human cofilin cDNA."
Jin J., Li G., Hu S., Li W., Yuan J., Qiang B.
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS CFL2A AND CFL2B).
[2]"Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle."
Thirion C., Stucka R., Mendel B., Gruhler A., Jaksch M., Nowak K.J., Binz N., Laing N.G., Lochmuller H.
Eur. J. Biochem. 268:3473-3482(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS CFL2A AND CFL2B).
Tissue: Bone marrow, Placenta and Skeletal muscle.
[6]Bienvenut W.V., Calvo F., Kolch W.
Submitted (MAR-2008) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 2-21; 35-92; 96-112; 115-125 AND 153-166, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[7]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-47.
[14]"Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2."
Agrawal P.B., Greenleaf R.S., Tomczak K.K., Lehtokari V.-L., Wallgren-Pettersson C., Wallefeld W., Laing N.G., Darras B.T., Maciver S.K., Dormitzer P.R., Beggs A.H.
Am. J. Hum. Genet. 80:162-167(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NEM7 THR-35, CHARACTERIZATION OF VARIANT NEM7 THR-35.
+Additional computationally mapped references.

Web resources

Wikipedia

Cofilin entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF134802 mRNA. Translation: AAD31280.1.
AF134803 mRNA. Translation: AAD31281.1.
AF283513 Genomic DNA. Translation: AAF97934.1.
AF242299 Genomic DNA. Translation: AAF64498.1.
AL355885 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65912.1.
BC011444 mRNA. Translation: AAH11444.1.
BC022364 mRNA. Translation: AAH22364.1.
BC022876 mRNA. Translation: AAH22876.1.
CCDSCCDS58311.1. [Q9Y281-3]
CCDS9649.1. [Q9Y281-1]
CCDS9650.1. [Q9Y281-1]
RefSeqNP_001230574.1. NM_001243645.1. [Q9Y281-3]
NP_068733.1. NM_021914.7. [Q9Y281-1]
NP_619579.1. NM_138638.4. [Q9Y281-1]
UniGeneHs.180141.

3D structure databases

ProteinModelPortalQ9Y281.
SMRQ9Y281. Positions 1-166.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107500. 7 interactions.
DIPDIP-33178N.
IntActQ9Y281. 4 interactions.
MINTMINT-1161448.
STRING9606.ENSP00000298159.

PTM databases

PhosphoSiteQ9Y281.

Polymorphism databases

DMDM6831517.

Proteomic databases

MaxQBQ9Y281.
PaxDbQ9Y281.
PRIDEQ9Y281.

Protocols and materials databases

DNASU1073.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000298159; ENSP00000298159; ENSG00000165410. [Q9Y281-1]
ENST00000341223; ENSP00000340635; ENSG00000165410. [Q9Y281-1]
ENST00000555765; ENSP00000452451; ENSG00000165410. [Q9Y281-3]
ENST00000556161; ENSP00000452188; ENSG00000165410. [Q9Y281-3]
GeneID1073.
KEGGhsa:1073.
UCSCuc001wsg.3. human. [Q9Y281-1]

Organism-specific databases

CTD1073.
GeneCardsGC14M035179.
GeneReviewsCFL2.
HGNCHGNC:1875. CFL2.
HPACAB037078.
HPA045599.
MIM601443. gene.
610687. phenotype.
neXtProtNX_Q9Y281.
Orphanet171436. Typical nemaline myopathy.
PharmGKBPA26424.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG303866.
HOGENOMHOG000039697.
HOVERGENHBG000381.
InParanoidQ9Y281.
KOK05765.
OMACFVKLLP.
OrthoDBEOG7353Z9.
PhylomeDBQ9Y281.
TreeFamTF328601.

Gene expression databases

ArrayExpressQ9Y281.
BgeeQ9Y281.
CleanExHS_CFL2.
GenevestigatorQ9Y281.

Family and domain databases

Gene3D3.40.20.10. 1 hit.
InterProIPR002108. ADF-H.
IPR029006. ADF-H/Gelsolin-like_dom.
IPR017904. ADF/Cofilin/Destrin.
[Graphical view]
PANTHERPTHR11913. PTHR11913. 1 hit.
PfamPF00241. Cofilin_ADF. 1 hit.
[Graphical view]
PRINTSPR00006. COFILIN.
SMARTSM00102. ADF. 1 hit.
[Graphical view]
PROSITEPS51263. ADF_H. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCFL2_(gene).
GenomeRNAi1073.
NextBio4480.
PROQ9Y281.
SOURCESearch...

Entry information

Entry nameCOF2_HUMAN
AccessionPrimary (citable) accession number: Q9Y281
Secondary accession number(s): G3V5P4
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: July 9, 2014
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM