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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

BioCyciZFISH:ENSG00000159251-MONOMER.
ReactomeiR-HSA-390522. 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
Proteomesi
  • UP000005640 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_012860314R → H in CMD1R. 1 PublicationCorresponds to variant rs121912673dbSNPEnsembl.1
Natural variantiVAR_012862363E → G in CMD1R. 1 PublicationCorresponds to variant rs121912674dbSNPEnsembl.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 rs121912676dbSNPEnsembl.1
Natural variantiVAR_04592597R → C in CMH11. 1 PublicationCorresponds to variant rs759495229dbSNPEnsembl.1
Natural variantiVAR_012857101E → K in CMH11. 1 PublicationCorresponds to variant rs193922680dbSNPEnsembl.1
Natural variantiVAR_012858166P → A in CMH11. 1 PublicationCorresponds to variant rs267606628dbSNPEnsembl.1
Natural variantiVAR_046503168Y → C in CMH11. 1 Publication1
Natural variantiVAR_012859297A → S in CMH11. 1 PublicationCorresponds to variant rs121912675dbSNPEnsembl.1
Natural variantiVAR_046504307M → L in CMH11. 1 Publication1
Natural variantiVAR_012861333A → P in CMH11. 1 PublicationCorresponds to variant rs267606629dbSNPEnsembl.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 rs121912677dbSNPEnsembl.1

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi70.
MalaCardsiACTC1.
MIMi612098. phenotype.
612794. phenotype.
613424. phenotype.
OpenTargetsiENSG00000159251.
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)DescriptionActionsGraphical viewLength
PropeptideiPRO_00000008121 – 2Removed in mature formBy similarity2
ChainiPRO_00000008133 – 377Actin, alpha cardiac muscle 1Add BLAST375

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3N-acetylaspartateBy 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 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 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.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.
TopDownProteomicsiP68032.

2D gel databases

REPRODUCTION-2DPAGEP68032.

PTM databases

iPTMnetiP68032.
PhosphoSitePlusiP68032.
SwissPalmiP68032.

Expressioni

Gene expression databases

BgeeiENSG00000159251.
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.

GO - Molecular functioni

  • myosin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi106585. 40 interactors.
IntActiP68032. 32 interactors.
MINTiMINT-1425728.
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.
OMAiSCHAGCG.
OrthoDBiEOG091G08LD.
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_04592490H → Y in CMH11. 1 PublicationCorresponds to variant rs121912676dbSNPEnsembl.1
Natural variantiVAR_04592597R → C in CMH11. 1 PublicationCorresponds to variant rs759495229dbSNPEnsembl.1
Natural variantiVAR_012857101E → K in CMH11. 1 PublicationCorresponds to variant rs193922680dbSNPEnsembl.1
Natural variantiVAR_046502125M → V in ASD5; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function. 1 PublicationCorresponds to variant rs121912677dbSNPEnsembl.1
Natural variantiVAR_012858166P → A in CMH11. 1 PublicationCorresponds to variant rs267606628dbSNPEnsembl.1
Natural variantiVAR_046503168Y → C in CMH11. 1 Publication1
Natural variantiVAR_012859297A → S in CMH11. 1 PublicationCorresponds to variant rs121912675dbSNPEnsembl.1
Natural variantiVAR_046504307M → L in CMH11. 1 Publication1
Natural variantiVAR_012860314R → H in CMD1R. 1 PublicationCorresponds to variant rs121912673dbSNPEnsembl.1
Natural variantiVAR_012861333A → P in CMH11. 1 PublicationCorresponds to variant rs267606629dbSNPEnsembl.1
Natural variantiVAR_012862363E → G in CMD1R. 1 PublicationCorresponds to variant rs121912674dbSNPEnsembl.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.

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. 40 interactors.
IntActiP68032. 32 interactors.
MINTiMINT-1425728.
STRINGi9606.ENSP00000290378.

PTM databases

iPTMnetiP68032.
PhosphoSitePlusiP68032.
SwissPalmiP68032.

Polymorphism and mutation databases

BioMutaiACTC1.
DMDMi54036697.

2D gel databases

REPRODUCTION-2DPAGEP68032.

Proteomic databases

EPDiP68032.
MaxQBiP68032.
PaxDbiP68032.
PeptideAtlasiP68032.
PRIDEiP68032.
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.
GeneCardsiACTC1.
GeneReviewsiACTC1.
HGNCiHGNC:143. ACTC1.
HPAiCAB003761.
CAB037330.
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.
155. Familial isolated hypertrophic cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBiPA162375571.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159251-MONOMER.
ReactomeiR-HSA-390522. Striated Muscle Contraction.
SignaLinkiP68032.

Miscellaneous databases

GeneWikiiACTC1.
GenomeRNAii70.
PROiP68032.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159251.
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...

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: November 30, 2016
This is version 131 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

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 one 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.