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Protein

Actin, alpha cardiac muscle 1

Gene

ACTC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

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.

GO - Molecular functioni

  • ATPase activity Source: UniProtKB
  • ATP binding Source: UniProtKB
  • myosin binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionMuscle protein
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SignaLinkiP68032
SIGNORiP68032

Names & Taxonomyi

Protein namesi
Recommended name:
Actin, alpha cardiac muscle 1
Alternative name(s):
Alpha-cardiac actin
Cleaved into the following chain:
Gene namesi
Name:ACTC1
Synonyms:ACTC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000159251.6
HGNCiHGNC:143 ACTC1
MIMi102540 gene
neXtProtiNX_P68032

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_012860314R → H in CMD1R. 1 PublicationCorresponds to variant dbSNP:rs121912673EnsemblClinVar.1
Natural variantiVAR_012862363E → G in CMD1R. 1 PublicationCorresponds to variant dbSNP:rs121912674EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_04592490H → Y in CMH11. 1 PublicationCorresponds to variant dbSNP:rs121912676EnsemblClinVar.1
Natural variantiVAR_04592597R → C in CMH11. 1 PublicationCorresponds to variant dbSNP:rs759495229Ensembl.1
Natural variantiVAR_012857101E → K in CMH11. 1 PublicationCorresponds to variant dbSNP:rs193922680EnsemblClinVar.1
Natural variantiVAR_012858166P → A in CMH11. 1 PublicationCorresponds to variant dbSNP:rs267606628EnsemblClinVar.1
Natural variantiVAR_046503168Y → C in CMH11. 1 Publication1
Natural variantiVAR_012859297A → S in CMH11. 1 PublicationCorresponds to variant dbSNP:rs121912675EnsemblClinVar.1
Natural variantiVAR_046504307M → L in CMH11. 1 Publication1
Natural variantiVAR_012861333A → P in CMH11. 1 PublicationCorresponds to variant dbSNP:rs267606629EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_046502125M → V in ASD5; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function. 1 PublicationCorresponds to variant dbSNP:rs121912677EnsemblClinVar.1

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi70
GeneReviewsiACTC1
MalaCardsiACTC1
MIMi612098 phenotype
612794 phenotype
613424 phenotype
OpenTargetsiENSG00000159251
Orphaneti99103 Atrial septal defect, ostium secundum type
154 Familial isolated dilated cardiomyopathy
54260 Left ventricular noncompaction
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA162375571

Polymorphism and mutation databases

BioMutaiACTC1
DMDMi54036697

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00004429982 – 377Actin, alpha cardiac muscle 1, intermediate formBy similarityAdd BLAST376
ChainiPRO_00000008133 – 377Actin, alpha cardiac muscle 1By similarityAdd BLAST375

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylcysteine; in intermediate formBy similarity1
Modified residuei46Methionine (R)-sulfoxideBy similarity1
Modified residuei49Methionine (R)-sulfoxideBy similarity1
Cross-linki52Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-272); by Vibrio toxins RtxA and VgrG1By similarity
Modified residuei75Tele-methylhistidineBy similarity1
Modified residuei86N6-methyllysine1 Publication1
Cross-linki272Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-52); by Vibrio toxins RtxA and VgrG1By similarity

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 promotes actin repolymerization.By similarity
Monomethylation at Lys-86 (K86me1) 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.1 Publication
(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).2 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Oxidation

Proteomic databases

EPDiP68032
MaxQBiP68032
PaxDbiP68032
PeptideAtlasiP68032
PRIDEiP68032
ProteomicsDBi57527
TopDownProteomicsiP68032

2D gel databases

REPRODUCTION-2DPAGEiP68032

PTM databases

iPTMnetiP68032
PhosphoSitePlusiP68032
SwissPalmiP68032

Expressioni

Gene expression databases

BgeeiENSG00000159251 Expressed in 185 organ(s), highest expression level in myocardium
CleanExiHS_ACTC1
GenevisibleiP68032 HS

Organism-specific databases

HPAiCAB037330
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.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106585, 45 interactors
IntActiP68032, 36 interactors
MINTiP68032
STRINGi9606.ENSP00000290378

Structurei

3D structure databases

ProteinModelPortaliP68032
SMRiP68032
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the actin family.Curated

Phylogenomic databases

eggNOGiKOG0676 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00760000118957
HOGENOMiHOG000233340
HOVERGENiHBG003771
InParanoidiP68032
KOiK12314
OMAiKCDESIC
OrthoDBiEOG091G08LD
PhylomeDBiP68032
TreeFamiTF354237

Family and domain databases

InterProiView protein in InterPro
IPR004000 Actin
IPR020902 Actin/actin-like_CS
IPR004001 Actin_CS
PANTHERiPTHR11937 PTHR11937, 1 hit
PfamiView protein in Pfam
PF00022 Actin, 1 hit
PRINTSiPR00190 ACTIN
SMARTiView protein in SMART
SM00268 ACTIN, 1 hit
PROSITEiView protein in PROSITE
PS00406 ACTINS_1, 1 hit
PS00432 ACTINS_2, 1 hit
PS01132 ACTINS_ACT_LIKE, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_04592490H → Y in CMH11. 1 PublicationCorresponds to variant dbSNP:rs121912676EnsemblClinVar.1
Natural variantiVAR_04592597R → C in CMH11. 1 PublicationCorresponds to variant dbSNP:rs759495229Ensembl.1
Natural variantiVAR_012857101E → K in CMH11. 1 PublicationCorresponds to variant dbSNP:rs193922680EnsemblClinVar.1
Natural variantiVAR_046502125M → V in ASD5; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function. 1 PublicationCorresponds to variant dbSNP:rs121912677EnsemblClinVar.1
Natural variantiVAR_012858166P → A in CMH11. 1 PublicationCorresponds to variant dbSNP:rs267606628EnsemblClinVar.1
Natural variantiVAR_046503168Y → C in CMH11. 1 Publication1
Natural variantiVAR_012859297A → S in CMH11. 1 PublicationCorresponds to variant dbSNP:rs121912675EnsemblClinVar.1
Natural variantiVAR_046504307M → L in CMH11. 1 Publication1
Natural variantiVAR_012860314R → H in CMD1R. 1 PublicationCorresponds to variant dbSNP:rs121912673EnsemblClinVar.1
Natural variantiVAR_012861333A → P in CMH11. 1 PublicationCorresponds to variant dbSNP:rs267606629EnsemblClinVar.1
Natural variantiVAR_012862363E → G in CMD1R. 1 PublicationCorresponds to variant dbSNP:rs121912674EnsemblClinVar.1

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.2 human

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106585, 45 interactors
IntActiP68032, 36 interactors
MINTiP68032
STRINGi9606.ENSP00000290378

PTM databases

iPTMnetiP68032
PhosphoSitePlusiP68032
SwissPalmiP68032

Polymorphism and mutation databases

BioMutaiACTC1
DMDMi54036697

2D gel databases

REPRODUCTION-2DPAGEiP68032

Proteomic databases

EPDiP68032
MaxQBiP68032
PaxDbiP68032
PeptideAtlasiP68032
PRIDEiP68032
ProteomicsDBi57527
TopDownProteomicsiP68032

Protocols and materials databases

DNASUi70
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290378; ENSP00000290378; ENSG00000159251
GeneIDi70
KEGGihsa:70
UCSCiuc001ziu.2 human

Organism-specific databases

CTDi70
DisGeNETi70
EuPathDBiHostDB:ENSG00000159251.6
GeneCardsiACTC1
GeneReviewsiACTC1
HGNCiHGNC:143 ACTC1
HPAiCAB037330
HPA041264
HPA041271
MalaCardsiACTC1
MIMi102540 gene
612098 phenotype
612794 phenotype
613424 phenotype
neXtProtiNX_P68032
OpenTargetsiENSG00000159251
Orphaneti99103 Atrial septal defect, ostium secundum type
154 Familial isolated dilated cardiomyopathy
54260 Left ventricular noncompaction
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA162375571
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0676 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00760000118957
HOGENOMiHOG000233340
HOVERGENiHBG003771
InParanoidiP68032
KOiK12314
OMAiKCDESIC
OrthoDBiEOG091G08LD
PhylomeDBiP68032
TreeFamiTF354237

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SignaLinkiP68032
SIGNORiP68032

Miscellaneous databases

ChiTaRSiACTC1 human
GeneWikiiACTC1
GenomeRNAii70
PROiPR:P68032
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159251 Expressed in 185 organ(s), highest expression level in myocardium
CleanExiHS_ACTC1
GenevisibleiP68032 HS

Family and domain databases

InterProiView protein in InterPro
IPR004000 Actin
IPR020902 Actin/actin-like_CS
IPR004001 Actin_CS
PANTHERiPTHR11937 PTHR11937, 1 hit
PfamiView protein in Pfam
PF00022 Actin, 1 hit
PRINTSiPR00190 ACTIN
SMARTiView protein in SMART
SM00268 ACTIN, 1 hit
PROSITEiView protein in PROSITE
PS00406 ACTINS_1, 1 hit
PS00432 ACTINS_2, 1 hit
PS01132 ACTINS_ACT_LIKE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiACTC_HUMAN
AccessioniPrimary (citable) accession number: P68032
Secondary accession number(s): P04270
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 1987
Last sequence update: March 20, 1987
Last modified: November 7, 2018
This is version 145 of the entry and version 1 of the sequence. See 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, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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