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Protein

Actin, alpha cardiac muscle 1

Gene

ACTC1

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

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

  • ATPase activity Source: UniProtKB
  • ATP binding Source: UniProtKB
  • myosin binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

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 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:143. ACTC1.

Subcellular locationi

GO - Cellular componenti

  • actin filament Source: UniProtKB
  • actomyosin, actin portion Source: UniProtKB
  • blood microparticle Source: UniProtKB
  • cell body Source: AgBase
  • cytoplasm Source: BHF-UCL
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • filopodium Source: AgBase
  • focal adhesion Source: UniProtKB
  • I band Source: UniProtKB
  • lamellipodium Source: AgBase
  • membrane Source: UniProtKB
  • sarcomere Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, dilated 1R (CMD1R)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

See also OMIM:613424
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)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:612098
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)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

See also OMIM:612794
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.

Polymorphism and mutation databases

BioMutaiACTC1.
DMDMi54036697.

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 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

Methylation, Oxidation

Proteomic databases

MaxQBiP68032.
PaxDbiP68032.
PRIDEiP68032.

2D gel databases

REPRODUCTION-2DPAGEP68032.

PTM databases

PhosphoSiteiP68032.

Expressioni

Gene expression databases

BgeeiP68032.
CleanExiHS_ACTC1.
GenevisibleiP68032. HS.

Organism-specific databases

HPAiCAB003761.
CAB037330.
HPA041264.
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. 36 interactions.
IntActiP68032. 16 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.
GeneTreeiENSGT00760000118957.
HOGENOMiHOG000233340.
HOVERGENiHBG003771.
InParanoidiP68032.
KOiK12314.
OMAiQMITIGA.
OrthoDBiEOG72RMZ1.
PhylomeDBiP68032.
TreeFamiTF354237.

Family and domain databases

InterProiIPR004000. Actin.
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

        10         20         30         40         50
MCDDEETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG
60 70 80 90 100
QKDSYVGDEA QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP
110 120 130 140 150
EEHPTLLTEA PLNPKANREK MTQIMFETFN VPAMYVAIQA VLSLYASGRT
160 170 180 190 200
TGIVLDSGDG VTHNVPIYEG YALPHAIMRL DLAGRDLTDY LMKILTERGY
210 220 230 240 250
SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK SYELPDGQVI
260 270 280 290 300
TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV
310 320 330 340 350
LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS
360 370
LSTFQQMWIS KQEYDEAGPS IVHRKCF
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:
EMBLi
GenBanki
DDBJi
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi106585. 36 interactions.
IntActiP68032. 16 interactions.
MINTiMINT-1425728.
STRINGi9606.ENSP00000290378.

PTM databases

PhosphoSiteiP68032.

Polymorphism and mutation databases

BioMutaiACTC1.
DMDMi54036697.

2D gel databases

REPRODUCTION-2DPAGEP68032.

Proteomic databases

MaxQBiP68032.
PaxDbiP68032.
PRIDEiP68032.

Protocols and materials databases

DNASUi70.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi70.
GeneCardsiGC15M035080.
GeneReviewsiACTC1.
HGNCiHGNC:143. ACTC1.
HPAiCAB003761.
CAB037330.
HPA041264.
HPA041271.
MIMi102540. gene.
612098. phenotype.
612794. phenotype.
613424. phenotype.
neXtProtiNX_P68032.
Orphaneti99103. Atrial septal defect, ostium secundum type.
154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBiPA162375571.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5277.
GeneTreeiENSGT00760000118957.
HOGENOMiHOG000233340.
HOVERGENiHBG003771.
InParanoidiP68032.
KOiK12314.
OMAiQMITIGA.
OrthoDBiEOG72RMZ1.
PhylomeDBiP68032.
TreeFamiTF354237.

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.
SignaLinkiP68032.

Miscellaneous databases

GeneWikiiACTC1.
GenomeRNAii70.
NextBioi20825789.
PROiP68032.
SOURCEiSearch...

Gene expression databases

BgeeiP68032.
CleanExiHS_ACTC1.
GenevisibleiP68032. HS.

Family and domain databases

InterProiIPR004000. Actin.
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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: June 24, 2015
This is version 117 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.