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Protein

Actin, alpha skeletal muscle

Gene

ACTA1

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

  • ADP binding Source: UniProtKB
  • ATP binding Source: UniProtKB
  • myosin binding Source: UniProtKB
  • structural constituent of cytoskeleton Source: UniProtKB

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

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Reactomei
R-HSA-390522 Striated Muscle Contraction

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

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SignaLinki
P68133

SIGNOR Signaling Network Open Resource

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SIGNORi
P68133

<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 skeletal muscle
Alternative name(s):
Alpha-actin-1
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:ACTA1
Synonyms:ACTA
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000143632.14

Human Gene Nomenclature Database

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HGNCi
HGNC:129 ACTA1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
102610 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P68133

<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

Nemaline myopathy 3 (NEM3)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination.
See also OMIM:161800
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_0624243D → Y in NEM3; some patients have core lesions on muscle biopsy. 1 PublicationCorresponds to variant dbSNP:rs121909527EnsemblClinVar.1
Natural variantiVAR_06242527D → N in NEM3. 1
Natural variantiVAR_06242637V → L in NEM3. 1 Publication1
Natural variantiVAR_06242740P → L in NEM3. 1 Publication1
Natural variantiVAR_01557942H → Y in NEM3; severe. 2 Publications1
Natural variantiVAR_06242843Q → R in NEM3. 1 Publication1
Natural variantiVAR_06242944G → V in NEM3. 1
Natural variantiVAR_06243045V → F in NEM3. Corresponds to variant dbSNP:rs398123562EnsemblClinVar.1
Natural variantiVAR_06243166I → N in NEM3. 1 Publication1
Natural variantiVAR_06243268T → I in NEM3. 1 Publication1
Natural variantiVAR_06243374E → K in NEM3. 1 Publication1
Natural variantiVAR_06243475H → L in NEM3. 1 Publication1
Natural variantiVAR_06243575H → R in NEM3. 1 Publication1
Natural variantiVAR_06243677I → L in NEM3. 1 Publication1
Natural variantiVAR_06243779T → A in NEM3. 1 Publication1
Natural variantiVAR_06243885E → K in NEM3. 1 Publication1
Natural variantiVAR_01168196L → P in NEM3; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs121909519EnsemblClinVar.1
Natural variantiVAR_062439116A → T in NEM3. 1
Natural variantiVAR_011682117N → S in NEM3; autosomal dominant. 3 PublicationsCorresponds to variant dbSNP:rs121909520EnsemblClinVar.1
Natural variantiVAR_062440117N → T in NEM3. 1
Natural variantiVAR_062441118R → H in NEM3. 1
Natural variantiVAR_013470134M → V in NEM3; autosomal dominant. 2 Publications1
Natural variantiVAR_062442136V → A in NEM3. 1 Publication1
Natural variantiVAR_011683138I → M in NEM3; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs121909526EnsemblClinVar.1
Natural variantiVAR_062443140A → P in NEM3. 1
Natural variantiVAR_062444142L → P in NEM3. 1
Natural variantiVAR_062445148G → D in NEM3. 1 Publication1
Natural variantiVAR_062446150T → N in NEM3. 1
Natural variantiVAR_062447156D → N in NEM3. 1
Natural variantiVAR_062448165V → M in NEM3; results in sequestration of sarcomeric and Z line proteins into intranuclear aggregates; there is some evidence of muscle regeneration suggesting a compensatory effect. 3 PublicationsCorresponds to variant dbSNP:rs121909522EnsemblClinVar.1
Natural variantiVAR_062449172A → G in NEM3. 1
Natural variantiVAR_062450181D → G in NEM3. 1 Publication1
Natural variantiVAR_062451181D → H in NEM3. 1
Natural variantiVAR_062452181D → N in NEM3. 1
Natural variantiVAR_015580184G → D in NEM3; mild. 2 Publications1
Natural variantiVAR_015582185R → C in NEM3; severe. 1 Publication1
Natural variantiVAR_062453185R → D in NEM3; requires 2 nucleotide substitutions. 1
Natural variantiVAR_015581185R → G in NEM3; autosomal dominant; severe. 3 Publications1
Natural variantiVAR_062454185R → S in NEM3. Corresponds to variant dbSNP:rs1064794287Ensembl.1
Natural variantiVAR_062455198R → L in NEM3. 1
Natural variantiVAR_062456199G → S in NEM3. 1 Publication1
Natural variantiVAR_062457226E → G in NEM3. 1 Publication1
Natural variantiVAR_062458226E → Q in NEM3. Corresponds to variant dbSNP:rs1057521118Ensembl.1
Natural variantiVAR_062459227N → V in NEM3; requires 2 nucleotide substitutions. 1
Natural variantiVAR_062460229M → I in NEM3. 1 Publication1
Natural variantiVAR_062461229M → T in NEM3. 1
Natural variantiVAR_062462229M → V in NEM3. 1 PublicationCorresponds to variant dbSNP:rs794727714EnsemblClinVar.1
Natural variantiVAR_062463243E → K in NEM3. Corresponds to variant dbSNP:rs367543051EnsemblClinVar.1
Natural variantiVAR_062464248Q → K in NEM3. 1
Natural variantiVAR_062465248Q → R in NEM3. 1 Publication1
Natural variantiVAR_062466253G → D in NEM3. 1 Publication1
Natural variantiVAR_015583258R → H in NEM3; severe. 1 Publication1
Natural variantiVAR_062467258R → L in NEM3. 1
Natural variantiVAR_011685261E → V in NEM3; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs121909523EnsemblClinVar.1
Natural variantiVAR_015584265Q → L in NEM3; severe. 1 Publication1
Natural variantiVAR_011686270G → C in NEM3; autosomal dominant. 3 PublicationsCorresponds to variant dbSNP:rs121909525EnsemblClinVar.1
Natural variantiVAR_062468270G → D in NEM3. 1 Publication1
Natural variantiVAR_062469270G → R in NEM3. Corresponds to variant dbSNP:rs121909525EnsemblClinVar.1
Natural variantiVAR_013471271M → R in NEM3; autosomal dominant. 1 Publication1
Natural variantiVAR_062470274A → E in NEM3. 1
Natural variantiVAR_062471281Y → H in NEM3. 1 Publication1
Natural variantiVAR_015585282N → K in NEM3; severe. 2 Publications1
Natural variantiVAR_062472285M → K in NEM3. 1
Natural variantiVAR_015586288D → G in NEM3; severe; formation of rod-like structure. 3 Publications1
Natural variantiVAR_076427328K → N in NEM3; no effect on actin structure; higher sensitivty to calcium. 1 PublicationCorresponds to variant dbSNP:rs398122936EnsemblClinVar.1
Natural variantiVAR_062473336E → A in NEM3. 1 PublicationCorresponds to variant dbSNP:rs121909528EnsemblClinVar.1
Natural variantiVAR_062474338K → E in NEM3. 1 Publication1
Natural variantiVAR_062475338K → I in NEM3. 1
Natural variantiVAR_062476350S → L in NEM3. 1
Natural variantiVAR_076428358W → C in NEM3; found in a patient with a rare combination of NEM3 and dilated cardiomyopathy. 1 PublicationCorresponds to variant dbSNP:rs587777354EnsemblClinVar.1
Natural variantiVAR_015587359I → L in NEM3; autosomal dominant; severe. 2 PublicationsCorresponds to variant dbSNP:rs121909524EnsemblClinVar.1
Natural variantiVAR_011687372V → F in NEM3; severe. 1 Publication1
Natural variantiVAR_062477374R → S in NEM3. 1
Natural variantiVAR_062478375K → E in NEM3. 1 Publication1
Natural variantiVAR_062479375K → Q in NEM3. 1 Publication1
Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent.
See also OMIM:161800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01168017G → R in MPCETM. 1 PublicationCorresponds to variant dbSNP:rs121909521EnsemblClinVar.1
Natural variantiVAR_011684165V → L in MPCETM. 2 PublicationsCorresponds to variant dbSNP:rs121909522EnsemblClinVar.1
Myopathy, congenital, with fiber-type disproportion (CFTD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.
See also OMIM:255310
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032917223L → P in CFTD. 1 PublicationCorresponds to variant dbSNP:rs121909530EnsemblClinVar.1
Natural variantiVAR_032918294D → V in CFTD; results in decreased motility due to abnormal interactions between actin and tropomyosin with tropomyosin stabilized in the 'off' position; the mutant protein incorporates into actin filaments and does not result in increased actin aggregation or disruption of the sarcomere. 2 PublicationsCorresponds to variant dbSNP:rs121909529EnsemblClinVar.1
Natural variantiVAR_032919334P → S in CFTD. 1 PublicationCorresponds to variant dbSNP:rs121909531EnsemblClinVar.1
Myopathy, scapulohumeroperoneal (SHPM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable.
See also OMIM:616852
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076426197E → D in SHPM; no effect on cytoskeleton structure. 1 PublicationCorresponds to variant dbSNP:rs869312739EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

DisGeNET

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DisGeNETi
58

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

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GeneReviewsi
ACTA1

MalaCards human disease database

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MalaCardsi
ACTA1
MIMi161800 phenotype
255310 phenotype
616852 phenotype

Open Targets

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OpenTargetsi
ENSG00000143632

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

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Orphaneti
171439 Childhood-onset nemaline myopathy
2020 Congenital fiber-type disproportion myopathy
98904 Congenital myopathy with excess of thin filaments
171433 Intermediate nemaline myopathy
447977 Progressive scapulohumeroperoneal distal myopathy
97244 Rigid spine syndrome
171430 Severe congenital nemaline myopathy
171436 Typical nemaline myopathy
97240 Zebra body myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24455

Chemistry databases

Drug and drug target database

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DrugBanki
DB04151 4-Methyl-Histidine
DB04629 Aplyronine A
DB03850 Jaspisamide A
DB03616 Kabiramide C
DB02621 Latrunculin A
DB08080 LATRUNCULIN B
DB04395 Phosphoaminophosphonic Acid-Adenylate Ester
DB04774 Reidispongiolide A
DB04775 Reidispongiolide C
DB04783 Sphinxolide B
DB02772 Sucrose
DB03903 Tmr
DB03021 Ulapualide A

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ACTA1

Domain mapping of disease mutations (DMDM)

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DMDMi
61218043

<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_00004428032 – 377Actin, alpha skeletal muscle, intermediate formBy similarityAdd BLAST376
ChainiPRO_00004428043 – 377Actin, alpha skeletal muscleBy 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 residuei63N6-malonyllysine1 Publication1
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 (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

Encyclopedia of Proteome Dynamics

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EPDi
P68133

MaxQB - The MaxQuant DataBase

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MaxQBi
P68133

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

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PaxDbi
P68133

PeptideAtlas

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PeptideAtlasi
P68133

PRoteomics IDEntifications database

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PRIDEi
P68133

ProteomicsDB human proteome resource

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ProteomicsDBi
57532

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P68133

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

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PhosphoSitePlusi
P68133

SwissPalm database of S-palmitoylation events

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SwissPalmi
P68133

<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
ENSG00000143632 Expressed in 149 organ(s), highest expression level in biceps brachii

CleanEx database of gene expression profiles

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CleanExi
HS_ACTA1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P68133 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P68133 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB000045
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. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X (By similarity). Interacts with TTID. Interacts (via its C-terminus) with USP25; the interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells.By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106573, 140 interactors

Protein interaction database and analysis system

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IntActi
P68133, 20 interactors

Molecular INTeraction database

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MINTi
P68133

STRING: functional protein association networks

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STRINGi
9606.ENSP00000355645

<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
P68133

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

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SMRi
P68133

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...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P68133

<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
ENSGT00940000156048

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
P68133

KEGG Orthology (KO)

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KOi
K10354

Identification of Orthologs from Complete Genome Data

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OMAi
GRTTGEC

Database of Orthologous Groups

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OrthoDBi
EOG091G08LD

Database for complete collections of gene phylogenies

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PhylomeDBi
P68133

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

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

The PANTHER Classification System

More...
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

More...
PRINTSi
PR00190 ACTIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00268 ACTIN, 1 hit

PROSITE; a protein domain and family database

More...
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>Sequence (1+)i

<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.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P68133-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MCDEDETTAL 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
MSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS
360 370
LSTFQQMWIT KQEYDEAGPS IVHRKCF
Length:377
Mass (Da):42,051
Last modified:July 21, 1986 - 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:iDF2A3A046346A179
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NL76A6NL76_HUMAN
Actin, alpha skeletal muscle
ACTA1
254Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0624243D → Y in NEM3; some patients have core lesions on muscle biopsy. 1 PublicationCorresponds to variant dbSNP:rs121909527EnsemblClinVar.1
Natural variantiVAR_01168017G → R in MPCETM. 1 PublicationCorresponds to variant dbSNP:rs121909521EnsemblClinVar.1
Natural variantiVAR_06242527D → N in NEM3. 1
Natural variantiVAR_06242637V → L in NEM3. 1 Publication1
Natural variantiVAR_06242740P → L in NEM3. 1 Publication1
Natural variantiVAR_01557942H → Y in NEM3; severe. 2 Publications1
Natural variantiVAR_06242843Q → R in NEM3. 1 Publication1
Natural variantiVAR_06242944G → V in NEM3. 1
Natural variantiVAR_06243045V → F in NEM3. Corresponds to variant dbSNP:rs398123562EnsemblClinVar.1
Natural variantiVAR_06243166I → N in NEM3. 1 Publication1
Natural variantiVAR_06243268T → I in NEM3. 1 Publication1
Natural variantiVAR_06243374E → K in NEM3. 1 Publication1
Natural variantiVAR_06243475H → L in NEM3. 1 Publication1
Natural variantiVAR_06243575H → R in NEM3. 1 Publication1
Natural variantiVAR_06243677I → L in NEM3. 1 Publication1
Natural variantiVAR_06243779T → A in NEM3. 1 Publication1
Natural variantiVAR_06243885E → K in NEM3. 1 Publication1
Natural variantiVAR_01168196L → P in NEM3; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs121909519EnsemblClinVar.1
Natural variantiVAR_062439116A → T in NEM3. 1
Natural variantiVAR_011682117N → S in NEM3; autosomal dominant. 3 PublicationsCorresponds to variant dbSNP:rs121909520EnsemblClinVar.1
Natural variantiVAR_062440117N → T in NEM3. 1
Natural variantiVAR_062441118R → H in NEM3. 1
Natural variantiVAR_013470134M → V in NEM3; autosomal dominant. 2 Publications1
Natural variantiVAR_062442136V → A in NEM3. 1 Publication1
Natural variantiVAR_011683138I → M in NEM3; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs121909526EnsemblClinVar.1
Natural variantiVAR_062443140A → P in NEM3. 1
Natural variantiVAR_062444142L → P in NEM3. 1
Natural variantiVAR_062445148G → D in NEM3. 1 Publication1
Natural variantiVAR_062446150T → N in NEM3. 1
Natural variantiVAR_062447156D → N in NEM3. 1
Natural variantiVAR_011684165V → L in MPCETM. 2 PublicationsCorresponds to variant dbSNP:rs121909522EnsemblClinVar.1
Natural variantiVAR_062448165V → M in NEM3; results in sequestration of sarcomeric and Z line proteins into intranuclear aggregates; there is some evidence of muscle regeneration suggesting a compensatory effect. 3 PublicationsCorresponds to variant dbSNP:rs121909522EnsemblClinVar.1
Natural variantiVAR_062449172A → G in NEM3. 1
Natural variantiVAR_062450181D → G in NEM3. 1 Publication1
Natural variantiVAR_062451181D → H in NEM3. 1
Natural variantiVAR_062452181D → N in NEM3. 1
Natural variantiVAR_015580184G → D in NEM3; mild. 2 Publications1
Natural variantiVAR_015582185R → C in NEM3; severe. 1 Publication1
Natural variantiVAR_062453185R → D in NEM3; requires 2 nucleotide substitutions. 1
Natural variantiVAR_015581185R → G in NEM3; autosomal dominant; severe. 3 Publications1
Natural variantiVAR_062454185R → S in NEM3. Corresponds to variant dbSNP:rs1064794287Ensembl.1
Natural variantiVAR_076426197E → D in SHPM; no effect on cytoskeleton structure. 1 PublicationCorresponds to variant dbSNP:rs869312739EnsemblClinVar.1
Natural variantiVAR_062455198R → L in NEM3. 1
Natural variantiVAR_062456199G → S in NEM3. 1 Publication1
Natural variantiVAR_032917223L → P in CFTD. 1 PublicationCorresponds to variant dbSNP:rs121909530EnsemblClinVar.1
Natural variantiVAR_062457226E → G in NEM3. 1 Publication1
Natural variantiVAR_062458226E → Q in NEM3. Corresponds to variant dbSNP:rs1057521118Ensembl.1
Natural variantiVAR_062459227N → V in NEM3; requires 2 nucleotide substitutions. 1
Natural variantiVAR_062460229M → I in NEM3. 1 Publication1
Natural variantiVAR_062461229M → T in NEM3. 1
Natural variantiVAR_062462229M → V in NEM3. 1 PublicationCorresponds to variant dbSNP:rs794727714EnsemblClinVar.1
Natural variantiVAR_062463243E → K in NEM3. Corresponds to variant dbSNP:rs367543051EnsemblClinVar.1
Natural variantiVAR_062464248Q → K in NEM3. 1
Natural variantiVAR_062465248Q → R in NEM3. 1 Publication1
Natural variantiVAR_062466253G → D in NEM3. 1 Publication1
Natural variantiVAR_015583258R → H in NEM3; severe. 1 Publication1
Natural variantiVAR_062467258R → L in NEM3. 1
Natural variantiVAR_011685261E → V in NEM3; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs121909523EnsemblClinVar.1
Natural variantiVAR_015584265Q → L in NEM3; severe. 1 Publication1
Natural variantiVAR_011686270G → C in NEM3; autosomal dominant. 3 PublicationsCorresponds to variant dbSNP:rs121909525EnsemblClinVar.1
Natural variantiVAR_062468270G → D in NEM3. 1 Publication1
Natural variantiVAR_062469270G → R in NEM3. Corresponds to variant dbSNP:rs121909525EnsemblClinVar.1
Natural variantiVAR_013471271M → R in NEM3; autosomal dominant. 1 Publication1
Natural variantiVAR_062470274A → E in NEM3. 1
Natural variantiVAR_062471281Y → H in NEM3. 1 Publication1
Natural variantiVAR_015585282N → K in NEM3; severe. 2 Publications1
Natural variantiVAR_062472285M → K in NEM3. 1
Natural variantiVAR_015586288D → G in NEM3; severe; formation of rod-like structure. 3 Publications1
Natural variantiVAR_032918294D → V in CFTD; results in decreased motility due to abnormal interactions between actin and tropomyosin with tropomyosin stabilized in the 'off' position; the mutant protein incorporates into actin filaments and does not result in increased actin aggregation or disruption of the sarcomere. 2 PublicationsCorresponds to variant dbSNP:rs121909529EnsemblClinVar.1
Natural variantiVAR_076427328K → N in NEM3; no effect on actin structure; higher sensitivty to calcium. 1 PublicationCorresponds to variant dbSNP:rs398122936EnsemblClinVar.1
Natural variantiVAR_032919334P → S in CFTD. 1 PublicationCorresponds to variant dbSNP:rs121909531EnsemblClinVar.1
Natural variantiVAR_062473336E → A in NEM3. 1 PublicationCorresponds to variant dbSNP:rs121909528EnsemblClinVar.1
Natural variantiVAR_062474338K → E in NEM3. 1 Publication1
Natural variantiVAR_062475338K → I in NEM3. 1
Natural variantiVAR_062476350S → L in NEM3. 1
Natural variantiVAR_076428358W → C in NEM3; found in a patient with a rare combination of NEM3 and dilated cardiomyopathy. 1 PublicationCorresponds to variant dbSNP:rs587777354EnsemblClinVar.1
Natural variantiVAR_015587359I → L in NEM3; autosomal dominant; severe. 2 PublicationsCorresponds to variant dbSNP:rs121909524EnsemblClinVar.1
Natural variantiVAR_011687372V → F in NEM3; severe. 1 Publication1
Natural variantiVAR_062477374R → S in NEM3. 1
Natural variantiVAR_062478375K → E in NEM3. 1 Publication1
Natural variantiVAR_062479375K → Q in NEM3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
J00068 mRNA Translation: AAB59376.1
M20543 Genomic DNA Translation: AAA60296.1
AF182035 Genomic DNA Translation: AAF02694.1
CR536516 mRNA Translation: CAG38754.1
CR541796 mRNA Translation: CAG46595.1
AL160004 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW69898.1
BC012597 mRNA Translation: AAH12597.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1578.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A31251 ATHU

NCBI Reference Sequences

More...
RefSeqi
NP_001091.1, NM_001100.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.1288

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000366684; ENSP00000355645; ENSG00000143632

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
58

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:58

UCSC genome browser

More...
UCSCi
uc001htm.4 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
J00068 mRNA Translation: AAB59376.1
M20543 Genomic DNA Translation: AAA60296.1
AF182035 Genomic DNA Translation: AAF02694.1
CR536516 mRNA Translation: CAG38754.1
CR541796 mRNA Translation: CAG46595.1
AL160004 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW69898.1
BC012597 mRNA Translation: AAH12597.1
CCDSiCCDS1578.1
PIRiA31251 ATHU
RefSeqiNP_001091.1, NM_001100.3
UniGeneiHs.1288

3D structure databases

ProteinModelPortaliP68133
SMRiP68133
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106573, 140 interactors
IntActiP68133, 20 interactors
MINTiP68133
STRINGi9606.ENSP00000355645

Chemistry databases

DrugBankiDB04151 4-Methyl-Histidine
DB04629 Aplyronine A
DB03850 Jaspisamide A
DB03616 Kabiramide C
DB02621 Latrunculin A
DB08080 LATRUNCULIN B
DB04395 Phosphoaminophosphonic Acid-Adenylate Ester
DB04774 Reidispongiolide A
DB04775 Reidispongiolide C
DB04783 Sphinxolide B
DB02772 Sucrose
DB03903 Tmr
DB03021 Ulapualide A

PTM databases

iPTMnetiP68133
PhosphoSitePlusiP68133
SwissPalmiP68133

Polymorphism and mutation databases

BioMutaiACTA1
DMDMi61218043

Proteomic databases

EPDiP68133
MaxQBiP68133
PaxDbiP68133
PeptideAtlasiP68133
PRIDEiP68133
ProteomicsDBi57532

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
58
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366684; ENSP00000355645; ENSG00000143632
GeneIDi58
KEGGihsa:58
UCSCiuc001htm.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
58
DisGeNETi58
EuPathDBiHostDB:ENSG00000143632.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ACTA1
GeneReviewsiACTA1
HGNCiHGNC:129 ACTA1
HPAiCAB000045
HPA041264
HPA041271
MalaCardsiACTA1
MIMi102610 gene
161800 phenotype
255310 phenotype
616852 phenotype
neXtProtiNX_P68133
OpenTargetsiENSG00000143632
Orphaneti171439 Childhood-onset nemaline myopathy
2020 Congenital fiber-type disproportion myopathy
98904 Congenital myopathy with excess of thin filaments
171433 Intermediate nemaline myopathy
447977 Progressive scapulohumeroperoneal distal myopathy
97244 Rigid spine syndrome
171430 Severe congenital nemaline myopathy
171436 Typical nemaline myopathy
97240 Zebra body myopathy
PharmGKBiPA24455

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0676 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00940000156048
HOGENOMiHOG000233340
HOVERGENiHBG003771
InParanoidiP68133
KOiK10354
OMAiGRTTGEC
OrthoDBiEOG091G08LD
PhylomeDBiP68133
TreeFamiTF354237

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SignaLinkiP68133
SIGNORiP68133

Miscellaneous databases

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

More...
ChiTaRSi
ACTA1 human
EvolutionaryTraceiP68133

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Actin,_alpha_1

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

More...
GenomeRNAii
58

Protein Ontology

More...
PROi
PR:P68133

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143632 Expressed in 149 organ(s), highest expression level in biceps brachii
CleanExiHS_ACTA1
ExpressionAtlasiP68133 baseline and differential
GenevisibleiP68133 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

More...
ProtoNeti
Search...

<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 nameiACTS_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: P68133
Secondary accession number(s): P02568, P99020, Q5T8M9
<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: July 21, 1986
Last sequence update: July 21, 1986
Last modified: December 5, 2018
This is version 158 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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
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