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Q9Y281

- COF2_HUMAN

UniProt

Q9Y281 - COF2_HUMAN

Protein

Cofilin-2

Gene

CFL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    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.By similarity

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. actin filament depolymerization Source: InterPro
    2. positive regulation of actin filament depolymerization Source: UniProt

    Keywords - Ligandi

    Actin-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cofilin-2
    Alternative name(s):
    Cofilin, muscle isoform
    Gene namesi
    Name:CFL2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:1875. CFL2.

    Subcellular locationi

    Nucleus matrix By similarity. Cytoplasmcytoskeleton By similarity

    GO - Cellular componenti

    1. actin cytoskeleton Source: InterPro
    2. extracellular space Source: UniProt
    3. I band Source: UniProt
    4. nuclear matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351A → T in NEM7; protein is less soluble when expressed in Escherichia coli. 1 Publication
    VAR_031989

    Keywords - Diseasei

    Disease mutation, Nemaline myopathy

    Organism-specific databases

    MIMi610687. phenotype.
    Orphaneti171436. Typical nemaline myopathy.
    PharmGKBiPA26424.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed5 Publications
    Chaini2 – 166165Cofilin-2PRO_0000214907Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine5 Publications
    Modified residuei3 – 31Phosphoserine2 Publications
    Modified residuei6 – 61PhosphothreonineBy similarity

    Post-translational modificationi

    The phosphorylation of Ser-24 may prevent recognition of the nuclear localization signal.2 Publications

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9Y281.
    PaxDbiQ9Y281.
    PRIDEiQ9Y281.

    PTM databases

    PhosphoSiteiQ9Y281.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ9Y281.
    BgeeiQ9Y281.
    CleanExiHS_CFL2.
    GenevestigatoriQ9Y281.

    Organism-specific databases

    HPAiCAB037078.
    HPA045599.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACTBP607093EBI-351218,EBI-353944
    ACTG1P632612EBI-351218,EBI-351292
    CSRP3P504612EBI-351218,EBI-5658719

    Protein-protein interaction databases

    BioGridi107500. 7 interactions.
    DIPiDIP-33178N.
    IntActiQ9Y281. 5 interactions.
    MINTiMINT-1161448.
    STRINGi9606.ENSP00000298159.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y281.
    SMRiQ9Y281. Positions 1-166.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini4 – 153150ADF-HPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi30 – 345Nuclear localization signalSequence Analysis

    Sequence similaritiesi

    Belongs to the actin-binding proteins ADF family.Curated
    Contains 1 ADF-H domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG303866.
    HOGENOMiHOG000039697.
    HOVERGENiHBG000381.
    InParanoidiQ9Y281.
    KOiK05765.
    OMAiCFVKLLP.
    OrthoDBiEOG7353Z9.
    PhylomeDBiQ9Y281.
    TreeFamiTF328601.

    Family and domain databases

    Gene3Di3.40.20.10. 1 hit.
    InterProiIPR002108. ADF-H.
    IPR029006. ADF-H/Gelsolin-like_dom.
    IPR017904. ADF/Cofilin/Destrin.
    [Graphical view]
    PANTHERiPTHR11913. PTHR11913. 1 hit.
    PfamiPF00241. Cofilin_ADF. 1 hit.
    [Graphical view]
    PRINTSiPR00006. COFILIN.
    SMARTiSM00102. ADF. 1 hit.
    [Graphical view]
    PROSITEiPS51263. ADF_H. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Note: Isoforms are identical at the level of the protein sequence.

    Isoform CFL2b (identifier: Q9Y281-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MASGVTVNDE VIKVFNDMKV RKSSTQEEIK KRKKAVLFCL SDDKRQIIVE    50
    EAKQILVGDI GDTVEDPYTS FVKLLPLNDC RYALYDATYE TKESKKEDLV 100
    FIFWAPESAP LKSKMIYASS KDAIKKKFTG IKHEWQVNGL DDIKDRSTLG 150
    EKLGGNVVVS LEGKPL 166
    Length:166
    Mass (Da):18,737
    Last modified:November 1, 1999 - v1
    Checksum:i48B6CDCCAE9FE1CC
    GO
    Isoform CFL2a (identifier: Q9Y281-2)

    Sequence is not available
    Length:
    Mass (Da):
    Isoform 3 (identifier: Q9Y281-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-17: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:149
    Mass (Da):16,917
    Checksum:i208CA2A540FB2A78
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351A → T in NEM7; protein is less soluble when expressed in Escherichia coli. 1 Publication
    VAR_031989
    Natural varianti47 – 471I → M in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036458

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1717Missing in isoform 3. CuratedVSP_046831Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS58311.1. [Q9Y281-3]
    CCDS9649.1. [Q9Y281-1]
    CCDS9650.1. [Q9Y281-1]
    RefSeqiNP_001230574.1. NM_001243645.1. [Q9Y281-3]
    NP_068733.1. NM_021914.7. [Q9Y281-1]
    NP_619579.1. NM_138638.4. [Q9Y281-1]
    UniGeneiHs.180141.

    Genome annotation databases

    EnsembliENST00000298159; ENSP00000298159; ENSG00000165410. [Q9Y281-1]
    ENST00000341223; ENSP00000340635; ENSG00000165410. [Q9Y281-1]
    ENST00000555765; ENSP00000452451; ENSG00000165410. [Q9Y281-3]
    ENST00000556161; ENSP00000452188; ENSG00000165410. [Q9Y281-3]
    GeneIDi1073.
    KEGGihsa:1073.
    UCSCiuc001wsg.3. human. [Q9Y281-1]

    Polymorphism databases

    DMDMi6831517.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Cofilin entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS58311.1. [Q9Y281-3 ]
    CCDS9649.1. [Q9Y281-1 ]
    CCDS9650.1. [Q9Y281-1 ]
    RefSeqi NP_001230574.1. NM_001243645.1. [Q9Y281-3 ]
    NP_068733.1. NM_021914.7. [Q9Y281-1 ]
    NP_619579.1. NM_138638.4. [Q9Y281-1 ]
    UniGenei Hs.180141.

    3D structure databases

    ProteinModelPortali Q9Y281.
    SMRi Q9Y281. Positions 1-166.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107500. 7 interactions.
    DIPi DIP-33178N.
    IntActi Q9Y281. 5 interactions.
    MINTi MINT-1161448.
    STRINGi 9606.ENSP00000298159.

    PTM databases

    PhosphoSitei Q9Y281.

    Polymorphism databases

    DMDMi 6831517.

    Proteomic databases

    MaxQBi Q9Y281.
    PaxDbi Q9Y281.
    PRIDEi Q9Y281.

    Protocols and materials databases

    DNASUi 1073.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298159 ; ENSP00000298159 ; ENSG00000165410 . [Q9Y281-1 ]
    ENST00000341223 ; ENSP00000340635 ; ENSG00000165410 . [Q9Y281-1 ]
    ENST00000555765 ; ENSP00000452451 ; ENSG00000165410 . [Q9Y281-3 ]
    ENST00000556161 ; ENSP00000452188 ; ENSG00000165410 . [Q9Y281-3 ]
    GeneIDi 1073.
    KEGGi hsa:1073.
    UCSCi uc001wsg.3. human. [Q9Y281-1 ]

    Organism-specific databases

    CTDi 1073.
    GeneCardsi GC14M035179.
    GeneReviewsi CFL2.
    HGNCi HGNC:1875. CFL2.
    HPAi CAB037078.
    HPA045599.
    MIMi 601443. gene.
    610687. phenotype.
    neXtProti NX_Q9Y281.
    Orphaneti 171436. Typical nemaline myopathy.
    PharmGKBi PA26424.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG303866.
    HOGENOMi HOG000039697.
    HOVERGENi HBG000381.
    InParanoidi Q9Y281.
    KOi K05765.
    OMAi CFVKLLP.
    OrthoDBi EOG7353Z9.
    PhylomeDBi Q9Y281.
    TreeFami TF328601.

    Miscellaneous databases

    GeneWikii CFL2_(gene).
    GenomeRNAii 1073.
    NextBioi 4480.
    PROi Q9Y281.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y281.
    Bgeei Q9Y281.
    CleanExi HS_CFL2.
    Genevestigatori Q9Y281.

    Family and domain databases

    Gene3Di 3.40.20.10. 1 hit.
    InterProi IPR002108. ADF-H.
    IPR029006. ADF-H/Gelsolin-like_dom.
    IPR017904. ADF/Cofilin/Destrin.
    [Graphical view ]
    PANTHERi PTHR11913. PTHR11913. 1 hit.
    Pfami PF00241. Cofilin_ADF. 1 hit.
    [Graphical view ]
    PRINTSi PR00006. COFILIN.
    SMARTi SM00102. ADF. 1 hit.
    [Graphical view ]
    PROSITEi PS51263. ADF_H. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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. 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. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. 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.

    Entry informationi

    Entry nameiCOF2_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y281
    Secondary accession number(s): G3V5P4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 140 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3