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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMuscle protein
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-390522 Striated Muscle Contraction

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P68032

SIGNOR Signaling Network Open Resource

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SIGNORi
P68032

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Actin, alpha cardiac muscle 1
Alternative name(s):
Alpha-cardiac actin
Cleaved into the following chain:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ACTC1
Synonyms:ACTC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000159251.6

Human Gene Nomenclature Database

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HGNCi
HGNC:143 ACTC1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
102540 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P68032

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

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DisGeNETi
70

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ACTC1

MalaCards human disease database

More...
MalaCardsi
ACTC1
MIMi612098 phenotype
612794 phenotype
613424 phenotype

Open Targets

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OpenTargetsi
ENSG00000159251

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99103 Atrial septal defect, ostium secundum type
154 Familial isolated dilated cardiomyopathy
54260 Left ventricular noncompaction
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162375571

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ACTC1

Domain mapping of disease mutations (DMDM)

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DMDMi
54036697

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>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
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylcysteine; in intermediate formBy similarity1
Modified residuei46Methionine (R)-sulfoxideBy similarity1
Modified residuei49Methionine (R)-sulfoxideBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
P68032

MaxQB - The MaxQuant DataBase

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MaxQBi
P68032

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P68032

PeptideAtlas

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PeptideAtlasi
P68032

PRoteomics IDEntifications database

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PRIDEi
P68032

ProteomicsDB human proteome resource

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ProteomicsDBi
57527

Consortium for Top Down Proteomics

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TopDownProteomicsi
P68032

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
P68032

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P68032

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P68032

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P68032

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000159251 Expressed in 185 organ(s), highest expression level in myocardium

CleanEx database of gene expression profiles

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CleanExi
HS_ACTC1

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P68032 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB037330
HPA041264
HPA041271

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106585, 48 interactors

Protein interaction database and analysis system

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IntActi
P68032, 39 interactors

Molecular INTeraction database

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MINTi
P68032

STRING: functional protein association networks

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STRINGi
9606.ENSP00000290378

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P68032

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P68032

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the actin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0676 Eukaryota
COG5277 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154710

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000233340

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003771

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P68032

KEGG Orthology (KO)

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KOi
K12314

Identification of Orthologs from Complete Genome Data

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OMAi
KCDESIC

Database of Orthologous Groups

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OrthoDBi
EOG091G08LD

Database for complete collections of gene phylogenies

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PhylomeDBi
P68032

TreeFam database of animal gene trees

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TreeFami
TF354237

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004000 Actin
IPR020902 Actin/actin-like_CS
IPR004001 Actin_CS

The PANTHER Classification System

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PANTHERi
PTHR11937 PTHR11937, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00022 Actin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00190 ACTIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00268 ACTIN, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00406 ACTINS_1, 1 hit
PS00432 ACTINS_2, 1 hit
PS01132 ACTINS_ACT_LIKE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
J00073
, J00070, J00071, J00072 Genomic DNA Translation: AAB59619.1
CR541795 mRNA Translation: CAG46594.1
BC009978 mRNA Translation: AAH09978.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10041.1

Protein sequence database of the Protein Information Resource

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PIRi
A02998 ATHUC

NCBI Reference Sequences

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RefSeqi
NP_005150.1, NM_005159.4

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.118127

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000290378; ENSP00000290378; ENSG00000159251

Database of genes from NCBI RefSeq genomes

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GeneIDi
70

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:70

UCSC genome browser

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UCSCi
uc001ziu.2 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 48 interactors
IntActiP68032, 39 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

The DNASU plasmid repository

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DNASUi
70
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
70
DisGeNETi70
EuPathDBiHostDB:ENSG00000159251.6

GeneCards: human genes, protein and diseases

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GeneCardsi
ACTC1
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

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0676 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00940000154710
HOGENOMiHOG000233340
HOVERGENiHBG003771
InParanoidiP68032
KOiK12314
OMAiKCDESIC
OrthoDBiEOG091G08LD
PhylomeDBiP68032
TreeFamiTF354237

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SignaLinkiP68032
SIGNORiP68032

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ACTC1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ACTC1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
70

Protein Ontology

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PROi
PR:P68032

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACTC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P68032
Secondary accession number(s): P04270
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 1987
Last sequence update: March 20, 1987
Last modified: December 5, 2018
This is version 146 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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