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ACTA2

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

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ACTA2

Identifiers

Aliases

ACTA2, AAT6, ACTSA, MYMY5, actin, alpha 2, smooth muscle, aorta, actin alpha 2, smooth muscle

External IDs

OMIM:102620;MGI:87909;HomoloGene:133938;GeneCards:ACTA2;OMA:ACTA2 - orthologs

Gene location (Human)

Chr.	Chromosome 10 (human)^[1]

Band	10q23.31	Start	88,935,074bp^[1]
Band	10q23.31	End	88,991,339bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	19\|19 C1	Start	34,218,490bp^[2]
Band	19\|19 C1	End	34,232,990bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

saphenous vein

tail of epididymis

right coronary artery

popliteal artery

tibial arteries

urethra

ascending aorta

seminal vesicula

body of uterus

Descending thoracic aorta

Top expressed in

ascending aorta

tunica media of zone of aorta

aortic valve

iris

umbilical cord

cervix

calvaria

migratory enteric neural crest cell

internal carotid artery

seminal vesicula

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	ATP binding nucleotide binding protein kinase binding
Cellular component	cytosol cytoplasm actin cytoskeleton smooth muscle contractile fiber cell body lamellipodium filopodium cytoskeleton extracellular exosome extracellular space protein-containing complex
Biological process	muscle contraction regulation of blood pressure vascular associated smooth muscle contraction mesenchyme migration positive regulation of gene expression glomerular mesangial cell development response to virus positive regulation of transcription, DNA-templated
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


59


11475

Ensembl


ENSG00000107796


ENSMUSG00000035783

UniProt


P62736


P62737

RefSeq (mRNA)


NM_001141945 NM_001613 NM_001320855


NM_007392

RefSeq (protein)


NP_001135417 NP_001307784 NP_001604


NP_031418

Location (UCSC)

Chr 10: 88.94 – 88.99 Mb

Chr 19: 34.22 – 34.23 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

ACTA2 (actin alpha 2) is anactin protein with several aliases includingalpha-actin, alpha-actin-2,aortic smooth muscle oralpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA). Actins are afamily ofglobular multi-functional proteins that formmicrofilaments. ACTA2 is one of six different actinisoforms and is involved in thecontractile apparatus ofsmooth muscle. ACTA2 (as with all the actins) is extremelyhighly conserved and found in nearly all mammals.

In humans, ACTA2 is encoded by theACTA2gene located on 10q22-q24.^[5]^[6] Mutations in this gene cause a variety of vascular diseases, such asthoracic aortic disease,coronary artery disease,stroke,Moyamoya disease, andmultisystemic smooth muscle dysfunction syndrome.^[5]

ACTA2 (commonly referred to as alpha-smooth muscle actin or α-SMA) is often used as a marker ofmyofibroblast formation.^[7] Studies have shown that ACTA2 is associated withTGF-β pathway that enhances contractile properties ofhepatic stellate cells leading toliver fibrosis and cirrhosis.^[8]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000107796 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000035783 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^^a ^b"Entrez Gene: ACTA2 actin, alpha 2, smooth muscle, aorta".
^Ueyama H, Bruns G, Kanda N (June 1990)."Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10".Jinrui Idengaku Zasshi. the Japanese Journal of Human Genetics.35 (2):145–150.doi:10.1007/BF01876459.PMID 2398629.
^Nagamoto T, Eguchi G, Beebe DC (April 2000). "Alpha-smooth muscle actin expression in cultured lens epithelial cells".Investigative Ophthalmology & Visual Science.41 (5):1122–1129.PMID 10752950.
^Hassan S, Shah H, Shawana S (2020)."Dysregulated epidermal growth factor and tumor growth factor-beta receptor signaling through GFAP-ACTA2 protein interaction in liver fibrosis".Pakistan Journal of Medical Sciences.36 (4):782–787.doi:10.12669/pjms.36.4.1845.PMC 7260937.PMID 32494274.

External links

[edit]

GeneReviews/NIH/NCBI/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections
HumanACTA2 genome location andACTA2 gene details page in theUCSC Genome Browser.

v t e PDB gallery
1atn: Atomic structure of the actin:DNASE I complex 1c0f: CRYSTAL STRUCTURE OF DICTYOSTELIUM CAATP-ACTIN IN COMPLEX WITH GELSOLIN SEGMENT 1 1c0g: CRYSTAL STRUCTURE OF 1:1 COMPLEX BETWEEN GELSOLIN SEGMENT 1 AND A DICTYOSTELIUM/TETRAHYMENA CHIMERA ACTIN (MUTANT 228: Q228K/T229A/A230Y/E360H) 1d4x: Crystal Structure of Caenorhabditis Elegans Mg-ATP Actin Complexed with Human Gelsolin Segment 1 at 1.75 A resolution. 1dej: CRYSTAL STRUCTURE OF A DICTYOSTELIUM/TETRAHYMENA CHIMERA ACTIN (MUTANT 646: Q228K/T229A/A230Y/A231K/S232E/E360H) IN COMPLEX WITH HUMAN GELSOLIN SEGMENT 1 1eqy: COMPLEX BETWEEN RABBIT MUSCLE ALPHA-ACTIN: HUMAN GELSOLIN DOMAIN 1 1esv: COMPLEX BETWEEN LATRUNCULIN A:RABBIT MUSCLE ALPHA ACTIN:HUMAN GELSOLIN DOMAIN 1 1h1v: GELSOLIN G4-G6/ACTIN COMPLEX 1hlu: STRUCTURE OF BOVINE BETA-ACTIN-PROFILIN COMPLEX WITH ACTIN BOUND ATP PHOSPHATES SOLVENT ACCESSIBLE 1ijj: THE X-RAY CRYSTAL STRUCTURE OF THE COMPLEX BETWEEN RABBIT SKELETAL MUSCLE ACTIN AND LATRUNCULIN A AT 2.85 A RESOLUTION 1j6z: UNCOMPLEXED ACTIN 1kxp: CRYSTAL STRUCTURE OF HUMAN VITAMIN D-BINDING PROTEIN IN COMPLEX WITH SKELETAL ACTIN 1lcu: Polylysine Induces an Antiparallel Actin Dimer that Nucleates Filament Assembly: Crystal Structure at 3.5 A Resolution 1lot: CRYSTAL STRUCTURE OF THE COMPLEX OF ACTIN WITH VITAMIN D-BINDING PROTEIN 1m8q: Molecular Models of Averaged Rigor Crossbridges from Tomograms of Insect Flight Muscle 1ma9: Crystal structure of the complex of human vitamin D binding protein and rabbit muscle actin 1mdu: Crystal structure of the chicken actin trimer complexed with human gelsolin segment 1 (GS-1) 1mvw: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1nlv: Crystal Structure Of Dictyostelium Discoideum Actin Complexed With Ca ATP And Human Gelsolin Segment 1 1nm1: Crystal Structure of D. Dicsoideum Actin Complexed With Gelsolin Segment 1 and Mg ATP at 1.8 A Resolution 1nmd: Crystal Structure of D. Discoideum Actin-Gelsolin Segment 1 Complex Crystallized In Presence Of Lithium ATP 1nwk: CRYSTAL STRUCTURE OF MONOMERIC ACTIN IN THE ATP STATE 1o18: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o19: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1a: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1b: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1c: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1d: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1e: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1f: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1g: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1p8z: Complex Between Rabbit Muscle alpha-Actin: Human Gelsolin Residues Val26-Glu156 1qz5: Structure of rabbit actin in complex with kabiramide C 1qz6: Structure of rabbit actin in complex with jaspisamide A 1rdw: Actin Crystal Dynamics: Structural Implications for F-actin Nucleation, Polymerization and Branching Mediated by the Anti-parallel Dimer 1rfq: Actin Crystal Dynamics: Structural Implications for F-actin Nucleation, Polymerization and Branching Mediated by the Anti-parallel Dimer 1rgi: Crystal structure of gelsolin domains G1-G3 bound to actin 1s22: Absolute Stereochemistry of Ulapualide A 1sqk: CRYSTAL STRUCTURE OF CIBOULOT IN COMPLEX WITH SKELETAL ACTIN 1t44: Structural basis of actin sequestration by thymosin-B4: Implications for arp2/3 activation 1wua: The structure of Aplyronine A-actin complex 1y64: Bni1p Formin Homology 2 Domain complexed with ATP-actin 1yxq: Crystal structure of actin in complex with swinholide A 2a3z: Ternary complex of the WH2 domain of WASP with Actin-DNAse I 2a40: Ternary complex of the WH2 domain of WAVE with Actin-DNAse I 2a41: Ternary complex of the WH2 Domain of WIP with Actin-DNAse I 2a42: Actin-DNAse I Complex 2a5x: Crystal Structure of a Cross-linked Actin Dimer 2asm: Structure of Rabbit Actin In Complex With Reidispongiolide A 2aso: Structure of Rabbit Actin In Complex With Sphinxolide B 2asp: Structure of Rabbit Actin In Complex With Reidispongiolide C 2btf: THE STRUCTURE OF CRYSTALLINE PROFILIN-BETA-ACTIN 2d1k: Ternary complex of the WH2 domain of mim with actin-dnase I 2ff3: Crystal structure of Gelsolin domain 1:N-wasp V2 motif hybrid in complex with actin 2ff6: Crystal structure of Gelsolin domain 1:ciboulot domain 2 hybrid in complex with actin 2fxu: X-ray Structure of Bistramide A- Actin Complex at 1.35 A resolution. 2gwj: SpvB ADP-ribosylated actin: hexagonal crystal form 2gwk: SpvB ADP-ribosylated actin: orthorhombic crystal form 2hf3: Crystal structure of monomeric Actin in the ADP bound state 2hf4: Crystal structure of Monomeric Actin in its ATP-bound state 2hmp: Uncomplexed actin cleaved with protease ECP32 2oan: Structure of oxidized beta-actin 2q1n: Actin Dimer Cross-linked Between Residues 41 and 374 2q31: Actin Dimer Cross-linked Between Residues 41 and 374 and proteolytically cleaved by subtilisin between residues 47 and 48. 2q36: Actin Dimer Cross-linked between Residues 191 and 374 and complexed with Kabiramide C

PDB gallery

1atn: Atomic structure of the actin:DNASE I complex
1c0f: CRYSTAL STRUCTURE OF DICTYOSTELIUM CAATP-ACTIN IN COMPLEX WITH GELSOLIN SEGMENT 1
1c0g: CRYSTAL STRUCTURE OF 1:1 COMPLEX BETWEEN GELSOLIN SEGMENT 1 AND A DICTYOSTELIUM/TETRAHYMENA CHIMERA ACTIN (MUTANT 228: Q228K/T229A/A230Y/E360H)
1d4x: Crystal Structure of Caenorhabditis Elegans Mg-ATP Actin Complexed with Human Gelsolin Segment 1 at 1.75 A resolution.
1dej: CRYSTAL STRUCTURE OF A DICTYOSTELIUM/TETRAHYMENA CHIMERA ACTIN (MUTANT 646: Q228K/T229A/A230Y/A231K/S232E/E360H) IN COMPLEX WITH HUMAN GELSOLIN SEGMENT 1
1eqy: COMPLEX BETWEEN RABBIT MUSCLE ALPHA-ACTIN: HUMAN GELSOLIN DOMAIN 1
1esv: COMPLEX BETWEEN LATRUNCULIN A:RABBIT MUSCLE ALPHA ACTIN:HUMAN GELSOLIN DOMAIN 1
1h1v: GELSOLIN G4-G6/ACTIN COMPLEX
1hlu: STRUCTURE OF BOVINE BETA-ACTIN-PROFILIN COMPLEX WITH ACTIN BOUND ATP PHOSPHATES SOLVENT ACCESSIBLE
1ijj: THE X-RAY CRYSTAL STRUCTURE OF THE COMPLEX BETWEEN RABBIT SKELETAL MUSCLE ACTIN AND LATRUNCULIN A AT 2.85 A RESOLUTION
1j6z: UNCOMPLEXED ACTIN
1kxp: CRYSTAL STRUCTURE OF HUMAN VITAMIN D-BINDING PROTEIN IN COMPLEX WITH SKELETAL ACTIN
1lcu: Polylysine Induces an Antiparallel Actin Dimer that Nucleates Filament Assembly: Crystal Structure at 3.5 A Resolution
1lot: CRYSTAL STRUCTURE OF THE COMPLEX OF ACTIN WITH VITAMIN D-BINDING PROTEIN
1m8q: Molecular Models of Averaged Rigor Crossbridges from Tomograms of Insect Flight Muscle
1ma9: Crystal structure of the complex of human vitamin D binding protein and rabbit muscle actin
1mdu: Crystal structure of the chicken actin trimer complexed with human gelsolin segment 1 (GS-1)
1mvw: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1nlv: Crystal Structure Of Dictyostelium Discoideum Actin Complexed With Ca ATP And Human Gelsolin Segment 1
1nm1: Crystal Structure of D. Dicsoideum Actin Complexed With Gelsolin Segment 1 and Mg ATP at 1.8 A Resolution
1nmd: Crystal Structure of D. Discoideum Actin-Gelsolin Segment 1 Complex Crystallized In Presence Of Lithium ATP
1nwk: CRYSTAL STRUCTURE OF MONOMERIC ACTIN IN THE ATP STATE
1o18: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1o19: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1o1a: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1o1b: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1o1c: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1o1d: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1o1e: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1o1f: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1o1g: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
1p8z: Complex Between Rabbit Muscle alpha-Actin: Human Gelsolin Residues Val26-Glu156
1qz5: Structure of rabbit actin in complex with kabiramide C
1qz6: Structure of rabbit actin in complex with jaspisamide A
1rdw: Actin Crystal Dynamics: Structural Implications for F-actin Nucleation, Polymerization and Branching Mediated by the Anti-parallel Dimer
1rfq: Actin Crystal Dynamics: Structural Implications for F-actin Nucleation, Polymerization and Branching Mediated by the Anti-parallel Dimer
1rgi: Crystal structure of gelsolin domains G1-G3 bound to actin
1s22: Absolute Stereochemistry of Ulapualide A
1sqk: CRYSTAL STRUCTURE OF CIBOULOT IN COMPLEX WITH SKELETAL ACTIN
1t44: Structural basis of actin sequestration by thymosin-B4: Implications for arp2/3 activation
1wua: The structure of Aplyronine A-actin complex
1y64: Bni1p Formin Homology 2 Domain complexed with ATP-actin
1yxq: Crystal structure of actin in complex with swinholide A
2a3z: Ternary complex of the WH2 domain of WASP with Actin-DNAse I
2a40: Ternary complex of the WH2 domain of WAVE with Actin-DNAse I
2a41: Ternary complex of the WH2 Domain of WIP with Actin-DNAse I
2a42: Actin-DNAse I Complex
2a5x: Crystal Structure of a Cross-linked Actin Dimer
2asm: Structure of Rabbit Actin In Complex With Reidispongiolide A
2aso: Structure of Rabbit Actin In Complex With Sphinxolide B
2asp: Structure of Rabbit Actin In Complex With Reidispongiolide C
2btf: THE STRUCTURE OF CRYSTALLINE PROFILIN-BETA-ACTIN
2d1k: Ternary complex of the WH2 domain of mim with actin-dnase I
2ff3: Crystal structure of Gelsolin domain 1:N-wasp V2 motif hybrid in complex with actin
2ff6: Crystal structure of Gelsolin domain 1:ciboulot domain 2 hybrid in complex with actin
2fxu: X-ray Structure of Bistramide A- Actin Complex at 1.35 A resolution.
2gwj: SpvB ADP-ribosylated actin: hexagonal crystal form
2gwk: SpvB ADP-ribosylated actin: orthorhombic crystal form
2hf3: Crystal structure of monomeric Actin in the ADP bound state
2hf4: Crystal structure of Monomeric Actin in its ATP-bound state
2hmp: Uncomplexed actin cleaved with protease ECP32
2oan: Structure of oxidized beta-actin
2q1n: Actin Dimer Cross-linked Between Residues 41 and 374
2q31: Actin Dimer Cross-linked Between Residues 41 and 374 and proteolytically cleaved by subtilisin between residues 47 and 48.
2q36: Actin Dimer Cross-linked between Residues 191 and 374 and complexed with Kabiramide C

Proteins of thecytoskeleton

Human

Microfilaments
andABPs

Myofilament

Actins	A1 A2 B C1 G1 G2
Myosins	I MYO1A MYO1B MYO1C MYO1D MYO1E MYO1F MYO1G MYO1H) II MYH1 MYH2 MYH3 MYH4 MYH6 MYH7 MYH7B MYH8 MYH9 MYH10 MYH11 MYH13 MYH14 MYH15 MYH16 III MYO3A MYO3B V MYO5A MYO5B MYO5C VI MYO6 VII MYO7A MYO7B IX MYO9A MYO9B X MYO10 XV MYO15A XVIII MYO18A MYO18B LC MYL1 MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP MYLK MYLK2 MYLL1
Other	Tropomodulin 1 2 3 4 Troponin T 1 2 3 C 1 2 I 1 2 3 Tropomyosin 1 2 3 4 Actinin 1 2 3 4 Arp2/3 complex actin depolymerizing factors Cofilin 1 2 Destrin Gelsolin Profilin 1 2 Titin

Other

Intermediate
filaments

Type 1/2
(Keratin,
Cytokeratin)

Epithelial keratins (soft alpha-keratins)	type I/chromosome 17 9 10 12 13 14 15 16 17 19 20 chromosome 12 18 none 21 type II/chromosome 12 1 2A 3 4 5 6A 6B 6C 7 8
Hair keratins (hard alpha-keratins)	type I/chromosome 17 31 32 33A 33B 34 35 36 37 38 type II/chromosome 12 81 82 83 84 85 86
Ungrouped alpha	chromosome 17 23 24 25 26 27 28 39 40 chromosome 12 71 72 73 74 75 76 77 78 79 80
Not alpha	Beta-keratin

Type 3

Type 4

Type 5

Microtubules
andMAPs

Tubulins	TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA8 TUBB TUBB1 TUBB2A TUBB2B TUBB2C TUBB3 TUBB4 TUBB4Q TUBB6 TUBB8 TUBG1 TUBG2 TUBGCP2 TUBGCP3 TUBGCP4 TUBGCP5 TUBGCP6 TUBD1 TUBE1
MAPs	EB1 EB2 EB3 MAP1A MAP1B MAP2 MAP4
Kinesins	KIF1A KIF1B KIF2A KIF2C KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIF5C KIF6 KIF7 KIF9 KIF11 KIF12 KIF13A KIF13B KIF14 KIF15 KIF16B KIF17 KIF18A KIF18B KIF19 KIF20A KIF20B KIF21A KIF21B KIF22 KIF23 KIF24 KIF25 KIF26A KIF26B KIF27 KIFC1 KIFC2 KIFC3
Dyneins	axonemal:DNAH1 DNAH2 DNAH3 DNAH5 DNAH6 DNAH7 DNAH8 DNAH9 DNAH10 DNAH11 DNAH12 DNAH13 DNAH14 DNAH17 DNAI1 DNAI2 DNALI1 DNAL1 DNAL4 cytoplasmic:DYNC1H1 DYNC2H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNC2LI1 DYNLL1 DYNLL2 DYNLRB1 DYNLRB2 DYNLT1 DYNLT3
Microtubule organising proteins	CAMSAP1 CAMSAP2 CAMSAP3 Centrin 1 Centrin 2 Centrin 3 PCM1
Microtubule severing proteins	Katanin Spastin
Other	Tau protein Dynactin DCTN1 Stathmin Tektin TEKT1 TEKT2 TEKT3 TEKT4 TEKT5 Dynamin DNM1 DNM2 DNM3