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P68032

- ACTC_HUMAN

UniProt

P68032 - ACTC_HUMAN

Protein

Actin, alpha cardiac muscle 1

Gene

ACTC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 1 (20 Mar 1987)
      Previous versions | rss
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    Functioni

    Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

    GO - Molecular functioni

    1. ATPase activity Source: UniProtKB
    2. ATP binding Source: UniProtKB
    3. myosin binding Source: UniProtKB

    GO - Biological processi

    1. actin filament-based movement Source: UniProtKB
    2. actin-myosin filament sliding Source: BHF-UCL
    3. actomyosin structure organization Source: UniProtKB
    4. apoptotic process Source: UniProtKB
    5. ATP catabolic process Source: GOC
    6. cardiac muscle contraction Source: Ensembl
    7. cardiac muscle tissue morphogenesis Source: UniProtKB
    8. cardiac myofibril assembly Source: UniProtKB
    9. heart contraction Source: UniProtKB
    10. muscle filament sliding Source: Reactome
    11. negative regulation of apoptotic process Source: Ensembl
    12. response to drug Source: Ensembl
    13. response to ethanol Source: Ensembl
    14. skeletal muscle thin filament assembly Source: UniProtKB

    Keywords - Molecular functioni

    Muscle protein

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_16969. Striated Muscle Contraction.
    SignaLinkiP68032.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Actin, alpha cardiac muscle 1
    Alternative name(s):
    Alpha-cardiac actin
    Gene namesi
    Name:ACTC1
    Synonyms:ACTC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:143. ACTC1.

    Subcellular locationi

    GO - Cellular componenti

    1. actin filament Source: UniProtKB
    2. actomyosin, actin portion Source: UniProtKB
    3. blood microparticle Source: UniProt
    4. cytoplasm Source: BHF-UCL
    5. cytosol Source: Reactome
    6. extracellular space Source: UniProt
    7. extracellular vesicular exosome Source: UniProtKB
    8. I band Source: UniProtKB
    9. membrane Source: UniProtKB
    10. sarcomere Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti314 – 3141R → H in CMD1R. 1 Publication
    VAR_012860
    Natural varianti363 – 3631E → G in CMD1R. 1 Publication
    VAR_012862
    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901H → Y in CMH11. 1 Publication
    VAR_045924
    Natural varianti97 – 971R → C in CMH11. 1 Publication
    VAR_045925
    Natural varianti101 – 1011E → K in CMH11. 1 Publication
    VAR_012857
    Natural varianti166 – 1661P → A in CMH11. 1 Publication
    VAR_012858
    Natural varianti168 – 1681Y → C in CMH11. 1 Publication
    VAR_046503
    Natural varianti297 – 2971A → S in CMH11. 1 Publication
    VAR_012859
    Natural varianti307 – 3071M → L in CMH11. 1 Publication
    VAR_046504
    Natural varianti333 – 3331A → P in CMH11. 1 Publication
    VAR_012861
    Atrial septal defect 5 (ASD5) [MIM:612794]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti125 – 1251M → V in ASD5; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function. 1 Publication
    VAR_046502

    Keywords - Diseasei

    Atrial septal defect, Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi612098. phenotype.
    612794. phenotype.
    613424. phenotype.
    Orphaneti99103. Atrial septal defect, ostium secundum type.
    154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    54260. Left ventricular noncompaction.
    PharmGKBiPA162375571.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Propeptidei1 – 22Removed in mature formBy similarityPRO_0000000812
    Chaini3 – 377375Actin, alpha cardiac muscle 1PRO_0000000813Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei3 – 31N-acetylaspartateBy similarity
    Modified residuei46 – 461Methionine (R)-sulfoxideBy similarity
    Modified residuei49 – 491Methionine (R)-sulfoxideBy similarity
    Modified residuei75 – 751Tele-methylhistidineBy similarity
    Modified residuei86 – 861N6-methyllysine1 Publication

    Post-translational modificationi

    Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization By similarity.By similarity
    Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.

    Keywords - PTMi

    Acetylation, Methylation, Oxidation

    Proteomic databases

    MaxQBiP68032.
    PaxDbiP68032.
    PRIDEiP68032.

    2D gel databases

    REPRODUCTION-2DPAGEP68032.

    PTM databases

    PhosphoSiteiP68032.

    Expressioni

    Gene expression databases

    ArrayExpressiP68032.
    BgeeiP68032.
    CleanExiHS_ACTC1.
    GenevestigatoriP68032.

    Organism-specific databases

    HPAiCAB037330.
    HPA041271.

    Interactioni

    Subunit structurei

    Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others.

    Protein-protein interaction databases

    BioGridi106585. 30 interactions.
    IntActiP68032. 14 interactions.
    MINTiMINT-1425728.
    STRINGi9606.ENSP00000290378.

    Structurei

    3D structure databases

    ProteinModelPortaliP68032.
    SMRiP68032. Positions 6-377.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the actin family.Curated

    Phylogenomic databases

    eggNOGiCOG5277.
    HOGENOMiHOG000233340.
    HOVERGENiHBG003771.
    InParanoidiP68032.
    KOiK12314.
    OMAiGGERFRC.
    OrthoDBiEOG72RMZ1.
    PhylomeDBiP68032.
    TreeFamiTF354237.

    Family and domain databases

    InterProiIPR004000. Actin-related.
    IPR020902. Actin/actin-like_CS.
    IPR004001. Actin_CS.
    [Graphical view]
    PANTHERiPTHR11937. PTHR11937. 1 hit.
    PfamiPF00022. Actin. 1 hit.
    [Graphical view]
    PRINTSiPR00190. ACTIN.
    SMARTiSM00268. ACTIN. 1 hit.
    [Graphical view]
    PROSITEiPS00406. ACTINS_1. 1 hit.
    PS00432. ACTINS_2. 1 hit.
    PS01132. ACTINS_ACT_LIKE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P68032-1 [UniParc]FASTAAdd to Basket

    « Hide

    MCDDEETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG    50
    QKDSYVGDEA QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP 100
    EEHPTLLTEA PLNPKANREK MTQIMFETFN VPAMYVAIQA VLSLYASGRT 150
    TGIVLDSGDG VTHNVPIYEG YALPHAIMRL DLAGRDLTDY LMKILTERGY 200
    SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK SYELPDGQVI 250
    TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV 300
    LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS 350
    LSTFQQMWIS KQEYDEAGPS IVHRKCF 377
    Length:377
    Mass (Da):42,019
    Last modified:March 20, 1987 - v1
    Checksum:iE5C10FA19730CAD2
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901H → Y in CMH11. 1 Publication
    VAR_045924
    Natural varianti97 – 971R → C in CMH11. 1 Publication
    VAR_045925
    Natural varianti101 – 1011E → K in CMH11. 1 Publication
    VAR_012857
    Natural varianti125 – 1251M → V in ASD5; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function. 1 Publication
    VAR_046502
    Natural varianti166 – 1661P → A in CMH11. 1 Publication
    VAR_012858
    Natural varianti168 – 1681Y → C in CMH11. 1 Publication
    VAR_046503
    Natural varianti297 – 2971A → S in CMH11. 1 Publication
    VAR_012859
    Natural varianti307 – 3071M → L in CMH11. 1 Publication
    VAR_046504
    Natural varianti314 – 3141R → H in CMD1R. 1 Publication
    VAR_012860
    Natural varianti333 – 3331A → P in CMH11. 1 Publication
    VAR_012861
    Natural varianti363 – 3631E → G in CMD1R. 1 Publication
    VAR_012862

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J00073
    , J00070, J00071, J00072 Genomic DNA. Translation: AAB59619.1.
    CR541795 mRNA. Translation: CAG46594.1.
    BC009978 mRNA. Translation: AAH09978.1.
    CCDSiCCDS10041.1.
    PIRiA02998. ATHUC.
    RefSeqiNP_005150.1. NM_005159.4.
    UniGeneiHs.118127.

    Genome annotation databases

    EnsembliENST00000290378; ENSP00000290378; ENSG00000159251.
    GeneIDi70.
    KEGGihsa:70.
    UCSCiuc001ziu.1. human.

    Polymorphism databases

    DMDMi54036697.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J00073
    , J00070 , J00071 , J00072 Genomic DNA. Translation: AAB59619.1 .
    CR541795 mRNA. Translation: CAG46594.1 .
    BC009978 mRNA. Translation: AAH09978.1 .
    CCDSi CCDS10041.1.
    PIRi A02998. ATHUC.
    RefSeqi NP_005150.1. NM_005159.4.
    UniGenei Hs.118127.

    3D structure databases

    ProteinModelPortali P68032.
    SMRi P68032. Positions 6-377.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106585. 30 interactions.
    IntActi P68032. 14 interactions.
    MINTi MINT-1425728.
    STRINGi 9606.ENSP00000290378.

    PTM databases

    PhosphoSitei P68032.

    Polymorphism databases

    DMDMi 54036697.

    2D gel databases

    REPRODUCTION-2DPAGE P68032.

    Proteomic databases

    MaxQBi P68032.
    PaxDbi P68032.
    PRIDEi P68032.

    Protocols and materials databases

    DNASUi 70.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290378 ; ENSP00000290378 ; ENSG00000159251 .
    GeneIDi 70.
    KEGGi hsa:70.
    UCSCi uc001ziu.1. human.

    Organism-specific databases

    CTDi 70.
    GeneCardsi GC15M035080.
    GeneReviewsi ACTC1.
    HGNCi HGNC:143. ACTC1.
    HPAi CAB037330.
    HPA041271.
    MIMi 102540. gene.
    612098. phenotype.
    612794. phenotype.
    613424. phenotype.
    neXtProti NX_P68032.
    Orphaneti 99103. Atrial septal defect, ostium secundum type.
    154. Familial isolated dilated cardiomyopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    54260. Left ventricular noncompaction.
    PharmGKBi PA162375571.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5277.
    HOGENOMi HOG000233340.
    HOVERGENi HBG003771.
    InParanoidi P68032.
    KOi K12314.
    OMAi GGERFRC.
    OrthoDBi EOG72RMZ1.
    PhylomeDBi P68032.
    TreeFami TF354237.

    Enzyme and pathway databases

    Reactomei REACT_16969. Striated Muscle Contraction.
    SignaLinki P68032.

    Miscellaneous databases

    GeneWikii ACTC1.
    GenomeRNAii 70.
    NextBioi 275.
    PROi P68032.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P68032.
    Bgeei P68032.
    CleanExi HS_ACTC1.
    Genevestigatori P68032.

    Family and domain databases

    InterProi IPR004000. Actin-related.
    IPR020902. Actin/actin-like_CS.
    IPR004001. Actin_CS.
    [Graphical view ]
    PANTHERi PTHR11937. PTHR11937. 1 hit.
    Pfami PF00022. Actin. 1 hit.
    [Graphical view ]
    PRINTSi PR00190. ACTIN.
    SMARTi SM00268. ACTIN. 1 hit.
    [Graphical view ]
    PROSITEi PS00406. ACTINS_1. 1 hit.
    PS00432. ACTINS_2. 1 hit.
    PS01132. ACTINS_ACT_LIKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular structure and evolutionary origin of human cardiac muscle actin gene."
      Hamada H., Petrino M.G., Kakunaga T.
      Proc. Natl. Acad. Sci. U.S.A. 79:5901-5905(1982) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Muscle.
    4. Cited for: METHYLATION AT LYS-86, DEMETHYLATION BY ALKBH4.
    5. "Actin mutations in dilated cardiomyopathy, a heritable form of heart failure."
      Olson T.M., Michels V.V., Thibodeau S.N., Tai Y.-S., Keating M.T.
      Science 280:750-752(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMD1R HIS-314 AND GLY-363.
    6. "Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy."
      Mogensen J., Klausen I.C., Pedersen A.K., Egeblad H., Bross P., Kruse T.A., Gregersen N., Hansen P.S., Baandrup U., Boerglum A.D.
      J. Clin. Invest. 103:R39-R43(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMH11 SER-297.
    7. "Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy."
      Olson T.M., Doan T.P., Kishimoto N.Y., Whitby F.G., Ackerman M.J., Fananapazir L.
      J. Mol. Cell. Cardiol. 32:1687-1694(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMH11 LYS-101; ALA-166 AND PRO-333.
    8. Cited for: VARIANTS CMH11 CYS-168 AND LEU-307.
    9. Cited for: VARIANT ASD5 VAL-125, CHARACTERIZATION OF VARIANT ASD5 VAL-125.
    10. Cited for: VARIANTS CMH11 TYR-90 AND CYS-97.

    Entry informationi

    Entry nameiACTC_HUMAN
    AccessioniPrimary (citable) accession number: P68032
    Secondary accession number(s): P04270
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 1987
    Last sequence update: March 20, 1987
    Last modified: October 1, 2014
    This is version 111 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

    Miscellaneous

    In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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