Reviewed,
UniProtKB/Swiss-Prot Q9Y281 (COF2_HUMAN)
Last modified
January 19, 2010.
Version 98.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Cofilin-2 Alternative name(s): Cofilin, muscle isoform | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 166 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence 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. Cytoplasm › cytoskeleton 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 | Defects in CFL2 are the cause of nemaline myopathy type 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-or rod-like 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. Ref.11 |
| Sequence similarities | Belongs to the actin-binding proteins ADF family. Contains 1 ADF-H domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Nemaline myopathy |
| Ligand | Actin-binding |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome Direct protein sequencing |
| Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW cytoskeletonInferred from electronic annotation. Source: UniProtKB-SubCell nuclear matrixInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | actin binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ACTB | P60709 | 1 | EBI-351218,EBI-353944 | |
| ACTG1 | P63261 | 1 | EBI-351218,EBI-351292 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [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. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.4 | ||||||
| Chain | 2 – 166 | 165 | Cofilin-2 | PRO_0000214907 | |||||
Regions | |||||||||
| Domain | 4 – 153 | 150 | ADF-H | ||||||
| Motif | 30 – 34 | 5 | Nuclear localization signal Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.4 Ref.8 | ||||||
| Modified residue | 3 | 1 | Phosphoserine Ref.8 Ref.6 | ||||||
| Modified residue | 6 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 24 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 89 | 1 | Phosphotyrosine Ref.5 | ||||||
| Modified residue | 92 | 1 | N6-acetyllysine Ref.9 | ||||||
Natural variations | |||||||||
| Natural variant | 35 | 1 | A → T in NEM7; protein is less soluble when expressed in Escherichia coli. Ref.11 | VAR_031989 | |||||
| Natural variant | 47 | 1 | I → M in a breast cancer sample; somatic mutation. Ref.10 | VAR_036458 | |||||
Sequences
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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]. |
| [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: 11422377] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow, Placenta and Skeletal muscle. |
| [4] | 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [5] | "Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules." Zhang Y., Wolf-Yadlin A., Ross P.L., Pappin D.J., Rush J., Lauffenburger D.A., White F.M. Mol. Cell. Proteomics 4:1240-1250(2005) [PubMed: 15951569] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-89, MASS SPECTROMETRY. Tissue: Epithelium. |
| [6] | "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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3, MASS SPECTROMETRY. Tissue: Epithelium. |
| [7] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [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: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-3, MASS SPECTROMETRY. |
| [9] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-92, MASS SPECTROMETRY. |
| [10] | "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. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-47. |
| [11] | "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: 17160903] [Abstract] Cited for: VARIANT NEM7 THR-35, CHARACTERIZATION OF VARIANT NEM7 THR-35. |
| + | Additional computationally mapped references. |
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. BC011444 mRNA. Translation: AAH11444.1. BC022364 mRNA. Translation: AAH22364.1. BC022876 mRNA. Translation: AAH22876.1. |
| IPI | IPI00413344. |
| RefSeq | NP_068733.1. NP_619579.1. |
| UniGene | Hs.180141 |
3D structure databases | |
| SMR | Q9Y281. Positions 1-166. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y281. 4 interactions. |
| STRING | Q9Y281. |
PTM databases | |
| PhosphoSite | Q9Y281. |
Proteomic databases | |
| PRIDE | Q9Y281. |
Genome annotation databases | |
| Ensembl | ENST00000298159; ENSP00000298159; ENSG00000165410; Homo sapiens. [Genome view] ENST00000341223; ENSP00000340635; ENSG00000165410; Homo sapiens. [Genome view] |
| GeneID | 1073. |
| KEGG | hsa:1073. |
| UCSC | uc001wsg.2. human. |
Organism-specific databases | |
| CTD | 1073. |
| GeneCards | GC14M034249. |
| H-InvDB | HIX0011593. |
| HGNC | HGNC:1875. CFL2. |
| MIM | 601443. gene. 610687. phenotype. |
| Orphanet | 607. Nemaline myopathy. |
| PharmGKB | PA26424. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG628477. |
| HOVERGEN | Q9Y281. |
| InParanoid | Q9Y281. |
| OMA | YTAFVKL. |
| PhylomeDB | Q9Y281. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | caspase_pathway. Caspase cascade in apoptosis. |
Gene expression databases | |
| ArrayExpress | Q9Y281. |
| Bgee | Q9Y281. |
| CleanEx | HS_CFL2. |
| Genevestigator | Q9Y281. |
| GermOnline | ENSG00000165410. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002108. Actin-bd_cofilin/tropomyosin. IPR017904. ADF/Cofilin/Destrin. [Graphical view] |
| Pfam | PF00241. Cofilin_ADF. 1 hit. [Graphical view] |
| PRINTS | PR00006. COFILIN. |
| SMART | SM00102. ADF. 1 hit. [Graphical view] |
| PROSITE | PS51263. ADF_H. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 4480. |
| SOURCE | Search... |
Entry information
| Entry name | COF2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y281 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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
| Human chromosome 14 Human chromosome 14: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


