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Protein

Actin, aortic smooth muscle

Gene

ACTA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Miscellaneous

In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMuscle protein
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-445355 Smooth Muscle Contraction
SignaLinkiP62736
SIGNORiP62736

Names & Taxonomyi

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:
Gene namesi
Name:ACTA2
Synonyms:ACTSA, ACTVS
ORF Names:GIG46
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107796.12
HGNCiHGNC:130 ACTA2
MIMi102620 gene
neXtProtiNX_P62736

Subcellular locationi

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

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.
See also OMIM:611788
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06257739R → H in AAT6. 1 PublicationCorresponds to variant dbSNP:rs794728021Ensembl.1
Natural variantiVAR_045915117N → T in AAT6. 2 Publications1
Natural variantiVAR_045916118R → Q in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs112602953Ensembl.1
Natural variantiVAR_045917135Y → H in AAT6. 1 PublicationCorresponds to variant dbSNP:rs751300489Ensembl.1
Natural variantiVAR_062578145Y → C in AAT6. 1 Publication1
Natural variantiVAR_045918149R → C in AAT6. 3 PublicationsCorresponds to variant dbSNP:rs121434526Ensembl.1
Natural variantiVAR_045919154V → A in AAT6. 2 Publications1
Natural variantiVAR_062579185R → Q in AAT6. 1 Publication1
Natural variantiVAR_062580212R → Q in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs397516685Ensembl.1
Natural variantiVAR_045920258R → C in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs121434528Ensembl.1
Natural variantiVAR_045921258R → H in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs121434527Ensembl.1
Natural variantiVAR_045922292R → G in AAT6. 1 Publication1
Natural variantiVAR_062581326T → N in AAT6. 1 PublicationCorresponds to variant dbSNP:rs777832794Ensembl.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.
See also OMIM:614042
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.
See also OMIM:613834

Keywords - Diseasei

Aortic aneurysm, Disease mutation

Organism-specific databases

DisGeNETi59
GeneReviewsiACTA2
MalaCardsiACTA2
MIMi611788 phenotype
613834 phenotype
614042 phenotype
OpenTargetsiENSG00000107796
Orphaneti91387 Familial thoracic aortic aneurysm and aortic dissection
2573 Moyamoya disease
404463 Multisystemic smooth muscle dysfunction syndrome
PharmGKBiPA24456

Polymorphism and mutation databases

BioMutaiACTA2
DMDMi51316972

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
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
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
Cross-linki52Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-272); by Vibrio toxins RtxA and VgrG1By similarity
Modified residuei75Tele-methylhistidineBy similarity1
Modified residuei86N6-methyllysineBy similarity1
Cross-linki272Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-52); by Vibrio toxins RtxA and VgrG1By similarity

Post-translational modificationi

Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.By similarity
Monomethylation at Lys-86 (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
(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

EPDiP62736
MaxQBiP62736
PaxDbiP62736
PeptideAtlasiP62736
PRIDEiP62736
TopDownProteomicsiP62736

2D gel databases

REPRODUCTION-2DPAGEiIPI00008603
UCD-2DPAGEiP62736

PTM databases

iPTMnetiP62736
PhosphoSitePlusiP62736
SwissPalmiP62736

Miscellaneous databases

PMAP-CutDBiP62736

Expressioni

Inductioni

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

Gene expression databases

BgeeiENSG00000107796
CleanExiHS_ACTA2
ExpressionAtlasiP62736 baseline and differential
GenevisibleiP62736 HS

Organism-specific databases

HPAiCAB000002
CAB013531
HPA041264
HPA041271

Interactioni

Subunit structurei

Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106574167 interactors.
CORUMiP62736
ELMiP62736
IntActiP62736 26 interactors.
MINTiP62736
STRINGi9606.ENSP00000224784

Structurei

3D structure databases

ProteinModelPortaliP62736
SMRiP62736
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the actin family.Curated

Phylogenomic databases

eggNOGiKOG0676 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00760000118957
HOGENOMiHOG000233340
HOVERGENiHBG003771
InParanoidiP62736
KOiK12313
OMAiAMCEEED
OrthoDBiEOG091G08LD
PhylomeDBiP62736
TreeFamiTF354237

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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
Checksum:i2D0543262DB35CA5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs794728021Ensembl.1
Natural variantiVAR_045915117N → T in AAT6. 2 Publications1
Natural variantiVAR_045916118R → Q in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs112602953Ensembl.1
Natural variantiVAR_045917135Y → H in AAT6. 1 PublicationCorresponds to variant dbSNP:rs751300489Ensembl.1
Natural variantiVAR_062578145Y → C in AAT6. 1 Publication1
Natural variantiVAR_045918149R → C in AAT6. 3 PublicationsCorresponds to variant dbSNP:rs121434526Ensembl.1
Natural variantiVAR_045919154V → A in AAT6. 2 Publications1
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:rs387906592Ensembl.1
Natural variantiVAR_062579185R → Q in AAT6. 1 Publication1
Natural variantiVAR_011944196T → S. Corresponds to variant dbSNP:rs1803028Ensembl.1
Natural variantiVAR_062580212R → Q in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs397516685Ensembl.1
Natural variantiVAR_045920258R → C in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs121434528Ensembl.1
Natural variantiVAR_045921258R → H in AAT6. 2 PublicationsCorresponds to variant dbSNP:rs121434527Ensembl.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:rs777832794Ensembl.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:
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
UniGeneiHs.500483

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiACTA_HUMAN
AccessioniPrimary (citable) accession number: P62736
Secondary accession number(s): B2R8A4
, P03996, P04108, Q6FI19
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: August 16, 2004
Last modified: April 25, 2018
This is version 147 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome