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UniProtKB - P62736 (ACTA_HUMAN)

Entry version 160 (18 Sep 2019)
Sequence version 1 (16 Aug 2004)
Previous versions | rss
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Protein

Actin, aortic smooth muscle

Gene

ACTA2

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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-445355 Smooth Muscle Contraction
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription

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

More...SignaLinki		P62736

SIGNOR Signaling Network Open Resource

More...SIGNORi		P62736

<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, aortic smooth muscle
Alternative name(s):
Alpha-actin-2
Cell growth-inhibiting gene 46 protein
Cleaved into the following chain:
Actin, aortic smooth muscle, intermediate form
<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:ACTA2
Synonyms:ACTSA, ACTVS
ORF Names:GIG46
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:130 ACTA2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		102620 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P62736

<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 & Seán O’Donoghue; 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

ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease.1 Publication
Aortic aneurysm, familial thoracic 6 (AAT6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.
Related information in OMIM
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_06257739R → H in AAT6. 1 PublicationCorresponds to variant dbSNP:rs794728021EnsemblClinVar.1
Natural variantiVAR_045915117N → T in AAT6. 2 Publications1
Natural variantiVAR_045916118R → Q in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs112602953EnsemblClinVar.1
Natural variantiVAR_045917135Y → H in AAT6. 1 PublicationCorresponds to variant dbSNP:rs751300489EnsemblClinVar.1
Natural variantiVAR_062578145Y → C in AAT6. 1 Publication1
Natural variantiVAR_045918149R → C in AAT6. 3 PublicationsCorresponds to variant dbSNP:rs121434526EnsemblClinVar.1
Natural variantiVAR_045919154V → A in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs1554841298EnsemblClinVar.1
Natural variantiVAR_062579185R → Q in AAT6. 1 PublicationCorresponds to variant dbSNP:rs1057521105EnsemblClinVar.1
Natural variantiVAR_062580212R → Q in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs397516685EnsemblClinVar.1
Natural variantiVAR_045920258R → C in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs121434528EnsemblClinVar.1
Natural variantiVAR_045921258R → H in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs121434527EnsemblClinVar.1
Natural variantiVAR_045922292R → G in AAT6. 1 Publication1
Natural variantiVAR_062581326T → N in AAT6. 1 PublicationCorresponds to variant dbSNP:rs777832794EnsemblClinVar.1
Natural variantiVAR_045923353T → N in AAT6. 2 Publications1
Moyamoya disease 5 (MYMY5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064516179R → H in MYMY5 and MSMDYS; disease phenotype include smooth muscle cells dysfunction in organs throughout the body with decreased contractile function in the iris, bladder and gastrointestinal tract. 2 PublicationsCorresponds to variant dbSNP:rs387906592EnsemblClinVar.1
Multisystemic smooth muscle dysfunction syndrome (MSMDYS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064516179R → H in MYMY5 and MSMDYS; disease phenotype include smooth muscle cells dysfunction in organs throughout the body with decreased contractile function in the iris, bladder and gastrointestinal tract. 2 PublicationsCorresponds to variant dbSNP:rs387906592EnsemblClinVar.1

Keywords - Diseasei

Aortic aneurysm, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		59

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

More...GeneReviewsi		ACTA2

MalaCards human disease database

More...MalaCardsi		ACTA2
MIMi611788 phenotype
613834 phenotype
614042 phenotype

Open Targets

More...OpenTargetsi		ENSG00000107796

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

More...Orphaneti		91387 Familial thoracic aortic aneurysm and aortic dissection
2573 Moyamoya disease
404463 Multisystemic smooth muscle dysfunction syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24456

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P62736

Chemistry databases

Drug and drug target database

More...DrugBanki		DB12695 Phenethyl Isothiocyanate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ACTA2

Domain mapping of disease mutations (DMDM)

More...DMDMi		51316972

<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_00004426032 – 377Actin, aortic smooth muscle, intermediate formBy similarityAdd BLAST376
ChainiPRO_00004426043 – 377Actin, aortic smooth muscleAdd 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 residuei3N-acetylglutamate; in Actin, aortic smooth muscleCombined sources1
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-methylhistidine1 Publication1
Modified residuei86N6-methyllysineBy similarity1
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.By similarity
Methylated at His-75 by SETD3.1 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

More...EPDi		P62736

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P62736

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P62736

MaxQB - The MaxQuant DataBase

More...MaxQBi		P62736

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

More...PaxDbi		P62736

PeptideAtlas

More...PeptideAtlasi		P62736

PRoteomics IDEntifications database

More...PRIDEi		P62736

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		57419

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P62736

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00008603

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P62736

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P62736

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

More...PhosphoSitePlusi		P62736

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P62736

Miscellaneous databases

CutDB - Proteolytic event database

More...PMAP-CutDBi		P62736

<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

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated in response to enterovirus 71 (EV71) infection.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000107796 Expressed in 236 organ(s), highest expression level in thoracic aorta

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P62736 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P62736 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB000002
CAB003761
CAB013531
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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		106574, 176 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P62736

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P62736

Protein interaction database and analysis system

More...IntActi		P62736, 90 interactors

Molecular INTeraction database

More...MINTi		P62736

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000402373

<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

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

More...SMRi		P62736

Database of comparative protein structure models

More...ModBasei		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

More...eggNOGi		KOG0676 Eukaryota
COG5277 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154148

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000233340

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P62736

KEGG Orthology (KO)

More...KOi		K12313

Identification of Orthologs from Complete Genome Data

More...OMAi		AMCEEED

Database of Orthologous Groups

More...OrthoDBi		649708at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P62736

TreeFam database of animal gene trees

More...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

More...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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 2 potential isoforms that are computationally mapped.Show allAlign All

P62736-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MCEEEDSTAL VCDNGSGLCK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG 
        60         70         80         90        100
QKDSYVGDEA QSKRGILTLK YPIEHGIITN WDDMEKIWHH SFYNELRVAP 
       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):42,009
Last modified:August 16, 2004 - 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:i2D0543262DB35CA5
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6QUT6F6QUT6_HUMAN
Actin, aortic smooth muscle
ACTA2
151Annotation 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>
F6UVQ4F6UVQ4_HUMAN
Actin, aortic smooth muscle
ACTA2
151Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti234S → W in AAA51577 (PubMed:2295650).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06257739R → H in AAT6. 1 PublicationCorresponds to variant dbSNP:rs794728021EnsemblClinVar.1
Natural variantiVAR_045915117N → T in AAT6. 2 Publications1
Natural variantiVAR_045916118R → Q in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs112602953EnsemblClinVar.1
Natural variantiVAR_045917135Y → H in AAT6. 1 PublicationCorresponds to variant dbSNP:rs751300489EnsemblClinVar.1
Natural variantiVAR_062578145Y → C in AAT6. 1 Publication1
Natural variantiVAR_045918149R → C in AAT6. 3 PublicationsCorresponds to variant dbSNP:rs121434526EnsemblClinVar.1
Natural variantiVAR_045919154V → A in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs1554841298EnsemblClinVar.1
Natural variantiVAR_064516179R → H in MYMY5 and MSMDYS; disease phenotype include smooth muscle cells dysfunction in organs throughout the body with decreased contractile function in the iris, bladder and gastrointestinal tract. 2 PublicationsCorresponds to variant dbSNP:rs387906592EnsemblClinVar.1
Natural variantiVAR_062579185R → Q in AAT6. 1 PublicationCorresponds to variant dbSNP:rs1057521105EnsemblClinVar.1
Natural variantiVAR_011944196T → S. Corresponds to variant dbSNP:rs1803028Ensembl.1
Natural variantiVAR_062580212R → Q in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs397516685EnsemblClinVar.1
Natural variantiVAR_045920258R → C in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs121434528EnsemblClinVar.1
Natural variantiVAR_045921258R → H in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs121434527EnsemblClinVar.1
Natural variantiVAR_045922292R → G in AAT6. 1 Publication1
Natural variantiVAR_011945320T → A. Corresponds to variant dbSNP:rs1803027Ensembl.1
Natural variantiVAR_062581326T → N in AAT6. 1 PublicationCorresponds to variant dbSNP:rs777832794EnsemblClinVar.1
Natural variantiVAR_045923353T → N in AAT6. 2 Publications1
Natural variantiVAR_011946373H → P. Corresponds to variant dbSNP:rs1062398Ensembl.1

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
X13839 mRNA Translation: CAA32064.1
J05192 mRNA Translation: AAA51577.1
AY692464 mRNA Translation: AAW29811.1
CR536518 mRNA Translation: CAG38756.1
AK313294 mRNA Translation: BAG36101.1
AL157394 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50153.1
BC017554 mRNA Translation: AAH17554.1
BC093052 mRNA Translation: AAH93052.1
K01741 Genomic DNA No translation available.
K01742 Genomic DNA No translation available.
K01743 Genomic DNA No translation available.
M33216 Genomic DNA Translation: AAA60560.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7392.1

Protein sequence database of the Protein Information Resource

More...PIRi		A35020 ATHUSM

NCBI Reference Sequences

More...RefSeqi		NP_001135417.1, NM_001141945.2
NP_001307784.1, NM_001320855.1
NP_001604.1, NM_001613.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000224784; ENSP00000224784; ENSG00000107796

Database of genes from NCBI RefSeq genomes

More...GeneIDi		59

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:59

UCSC genome browser

More...UCSCi		uc001kfp.4 human

Keywords - Coding sequence diversityi

Polymorphism

<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
X13839 mRNA Translation: CAA32064.1
J05192 mRNA Translation: AAA51577.1
AY692464 mRNA Translation: AAW29811.1
CR536518 mRNA Translation: CAG38756.1
AK313294 mRNA Translation: BAG36101.1
AL157394 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50153.1
BC017554 mRNA Translation: AAH17554.1
BC093052 mRNA Translation: AAH93052.1
K01741 Genomic DNA No translation available.
K01742 Genomic DNA No translation available.
K01743 Genomic DNA No translation available.
M33216 Genomic DNA Translation: AAA60560.1
CCDSiCCDS7392.1
PIRiA35020 ATHUSM
RefSeqiNP_001135417.1, NM_001141945.2
NP_001307784.1, NM_001320855.1
NP_001604.1, NM_001613.2

3D structure databases

SMRiP62736
ModBaseiSearch...

Protein-protein interaction databases

BioGridi106574, 176 interactors
CORUMiP62736
ELMiP62736
IntActiP62736, 90 interactors
MINTiP62736
STRINGi9606.ENSP00000402373

Chemistry databases

DrugBankiDB12695 Phenethyl Isothiocyanate

PTM databases

iPTMnetiP62736
PhosphoSitePlusiP62736
SwissPalmiP62736

Polymorphism and mutation databases

BioMutaiACTA2
DMDMi51316972

2D gel databases

REPRODUCTION-2DPAGEiIPI00008603
UCD-2DPAGEiP62736

Proteomic databases

EPDiP62736
jPOSTiP62736
MassIVEiP62736
MaxQBiP62736
PaxDbiP62736
PeptideAtlasiP62736
PRIDEiP62736
ProteomicsDBi57419
TopDownProteomicsiP62736

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		59

Genome annotation databases

EnsembliENST00000224784; ENSP00000224784; ENSG00000107796
GeneIDi59
KEGGihsa:59
UCSCiuc001kfp.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		59
DisGeNETi59

GeneCards: human genes, protein and diseases

More...GeneCardsi		ACTA2
GeneReviewsiACTA2
HGNCiHGNC:130 ACTA2
HPAiCAB000002
CAB003761
CAB013531
HPA041264
HPA041271
MalaCardsiACTA2
MIMi102620 gene
611788 phenotype
613834 phenotype
614042 phenotype
neXtProtiNX_P62736
OpenTargetsiENSG00000107796
Orphaneti91387 Familial thoracic aortic aneurysm and aortic dissection
2573 Moyamoya disease
404463 Multisystemic smooth muscle dysfunction syndrome
PharmGKBiPA24456

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0676 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00940000154148
HOGENOMiHOG000233340
InParanoidiP62736
KOiK12313
OMAiAMCEEED
OrthoDBi649708at2759
PhylomeDBiP62736
TreeFamiTF354237

Enzyme and pathway databases

ReactomeiR-HSA-445355 Smooth Muscle Contraction
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription
SignaLinkiP62736
SIGNORiP62736

Miscellaneous databases

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

More...ChiTaRSi		ACTA2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ACTA2

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

More...GenomeRNAii		59
PharosiP62736
PMAP-CutDBiP62736

Protein Ontology

More...PROi		PR:P62736

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000107796 Expressed in 236 organ(s), highest expression level in thoracic aorta
ExpressionAtlasiP62736 baseline and differential
GenevisibleiP62736 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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiACTA_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: P62736
Secondary accession number(s): B2R8A4
, P03996, P04108, Q6FI19
<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: October 23, 1986
Last sequence update: August 16, 2004
Last modified: September 18, 2019
This is version 160 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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