P62736 (ACTA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 89.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Actin, aortic smooth muscle Alternative name(s): Alpha-actin-2 Cell growth-inhibiting gene 46 protein | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 377 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. |
| Subunit structure | 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. |
| Subcellular location | |
| Induction | Up-regulated in response to enterovirus 71 (EV71) infection. Ref.12 |
| Involvement in disease | Note=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. Ref.16 Defects in ACTA2 are the cause of familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]. AATs are characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. They are 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. Ref.14 Ref.15 Ref.16 Defects in ACTA2 are the cause of Moyamoya disease type 5 (MYMY5) [MIM:614042]. Moyamoya disease is a 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. Ref.16 Ref.18 Defects in ACTA2 are the cause of multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]. MSMDYS is a 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. Ref.16 Ref.17 |
| 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. |
| Sequence similarities | Belongs to the actin family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton |
| Coding sequence diversity | Polymorphism |
| Disease | Aortic aneurysm Disease mutation |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Muscle protein |
| PTM | Acetylation Methylation Nitration Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | response to virus Inferred from expression pattern Ref.12. Source: UniProtKB |
| Cellular component | cytosol Traceable author statement. Source: Reactome |
| Molecular function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Propeptide | 1 – 2 | 2 | Removed in mature form By similarity | PRO_0000000738 | |||||
| Chain | 3 – 377 | 375 | Actin, aortic smooth muscle | PRO_0000000739 | |||||
Amino acid modifications | |||||||||
| Modified residue | 3 | 1 | N-acetylglutamate By similarity | ||||||
| Modified residue | 75 | 1 | Tele-methylhistidine By similarity | ||||||
| Modified residue | 296 | 1 | Nitrated tyrosine Ref.11 | ||||||
| Modified residue | 325 | 1 | Phosphoserine Ref.13 | ||||||
Natural variations | |||||||||
| Natural variant | 39 | 1 | R → H in AAT6. Ref.15 | VAR_062577 | |||||
| Natural variant | 117 | 1 | N → T in AAT6. Ref.14 Ref.15 | VAR_045915 | |||||
| Natural variant | 118 | 1 | R → Q in AAT6. Ref.14 Ref.15 | VAR_045916 | |||||
| Natural variant | 135 | 1 | Y → H in AAT6. Ref.14 | VAR_045917 | |||||
| Natural variant | 145 | 1 | Y → C in AAT6. Ref.16 | VAR_062578 | |||||
| Natural variant | 149 | 1 | R → C in AAT6. Ref.14 Ref.15 Ref.16 | VAR_045918 | |||||
| Natural variant | 154 | 1 | V → A in AAT6. Ref.14 Ref.15 | VAR_045919 | |||||
| Natural variant | 179 | 1 | R → 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. Ref.17 Ref.18 | VAR_064516 | |||||
| Natural variant | 185 | 1 | R → Q in AAT6. Ref.15 | VAR_062579 | |||||
| Natural variant | 196 | 1 | T → S. Corresponds to variant rs1803028 [ dbSNP | Ensembl ]. | VAR_011944 | |||||
| Natural variant | 212 | 1 | R → Q in AAT6. Ref.15 Ref.16 | VAR_062580 | |||||
| Natural variant | 258 | 1 | R → C in AAT6. Ref.14 Ref.15 | VAR_045920 | |||||
| Natural variant | 258 | 1 | R → H in AAT6. Ref.14 Ref.15 | VAR_045921 | |||||
| Natural variant | 292 | 1 | R → G in AAT6. Ref.14 | VAR_045922 | |||||
| Natural variant | 320 | 1 | T → A. Corresponds to variant rs1803027 [ dbSNP | Ensembl ]. | VAR_011945 | |||||
| Natural variant | 326 | 1 | T → N in AAT6. Ref.15 | VAR_062581 | |||||
| Natural variant | 353 | 1 | T → N in AAT6. Ref.14 Ref.15 | VAR_045923 | |||||
| Natural variant | 373 | 1 | H → P. Corresponds to variant rs1062398 [ dbSNP | Ensembl ]. | VAR_011946 | |||||
Experimental info | |||||||||
| Sequence conflict | 234 | 1 | S → W in AAA51577. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The nucleotide sequence of a human smooth muscle alpha-actin (aortic type) cDNA." Kamada S., Kakunaga T. Nucleic Acids Res. 17:1767-1767(1989) [PubMed: 2701935] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Structure of the human smooth muscle alpha-actin gene. Analysis of a cDNA and 5' upstream region." Reddy S., Ozgur K., Lu M., Chang W., Mohan S.R., Kumar C.C., Ruley H.E. J. Biol. Chem. 265:1683-1687(1990) [PubMed: 2295650] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "Identification of a human cell growth inhibiting gene." Kim J.W. Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [4] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skeletal muscle. |
| [6] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus. |
| [9] | "Structure of a human smooth muscle actin gene (aortic type) with a unique intron site." Ueyama H., Hamada H., Battula N., Kakunaga T. Mol. Cell. Biol. 4:1073-1078(1984) [PubMed: 6330528] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-330. |
| [10] | "Structure of 3'-downstream segment of the human smooth muscle (aortic-type) alpha-actin-encoding gene and isolation of the specific DNA probe." Kamada S., Nakano Y., Kakunaga T. Gene 84:455-462(1989) [PubMed: 2612915] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 331-377. |
| [11] | "The human pituitary nitroproteome: detection of nitrotyrosyl-proteins with two-dimensional Western blotting, and amino acid sequence determination with mass spectrometry." Zhan X., Desiderio D.M. Biochem. Biophys. Res. Commun. 325:1180-1186(2004) [PubMed: 15555551] [Abstract] Cited for: NITRATION [LARGE SCALE ANALYSIS] AT TYR-296, MASS SPECTROMETRY. Tissue: Pituitary. |
| [12] | "Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection." Leong W.F., Chow V.T. Cell. Microbiol. 8:565-580(2006) [PubMed: 16548883] [Abstract] Cited for: INDUCTION, MASS SPECTROMETRY. |
| [13] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-325, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [14] | "Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections." Guo D.-C., Pannu H., Tran-Fadulu V., Papke C.L., Yu R.K., Avidan N., Bourgeois S., Estrera A.L., Safi H.J., Sparks E., Amor D., Ades L., McConnell V., Willoughby C.E., Abuelo D., Willing M., Lewis R.A., Kim D.H. Milewicz D.M.Nat. Genet. 39:1488-1493(2007) [PubMed: 17994018] [Abstract] Cited for: VARIANTS AAT6 THR-117; GLN-118; HIS-135; CYS-149; ALA-154; CYS-258; HIS-258; GLY-292 AND ASN-353. |
| [15] | "Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease." Guo D.-C., Papke C.L., Tran-Fadulu V., Regalado E.S., Avidan N., Johnson R.J., Kim D.H., Pannu H., Willing M.C., Sparks E., Pyeritz R.E., Singh M.N., Dalman R.L., Grotta J.C., Marian A.J., Boerwinkle E.A., Frazier L.Q., LeMaire S.A. Milewicz D.M.Am. J. Hum. Genet. 84:617-627(2009) [PubMed: 19409525] [Abstract] Cited for: VARIANTS AAT6 HIS-39; THR-117; GLN-118; CYS-149; ALA-154; GLN-185; GLN-212; HIS-258; CYS-258; ASN-326 AND ASN-353. |
| [16] | "Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD)." Morisaki H., Akutsu K., Ogino H., Kondo N., Yamanaka I., Tsutsumi Y., Yoshimuta T., Okajima T., Matsuda H., Minatoya K., Sasaki H., Tanaka H., Ishibashi-Ueda H., Morisaki T. Hum. Mutat. 30:1406-1411(2009) [PubMed: 19639654] [Abstract] Cited for: VARIANTS AAT6 CYS-145; CYS-149 AND GLN-212, PREDISPOSITION TO A VARIETY OF VASCULAR DISEASES. |
| [17] | "De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction." Milewicz D.M., Ostergaard J.R., Ala-Kokko L.M., Khan N., Grange D.K., Mendoza-Londono R., Bradley T.J., Olney A.H., Ades L., Maher J.F., Guo D., Buja L.M., Kim D., Hyland J.C., Regalado E.S. Am. J. Med. Genet. A 152:2437-2443(2010) [PubMed: 20734336] [Abstract] Cited for: VARIANT MSMDYS HIS-179. |
| [18] | "Analysis of ACTA2 in European Moyamoya disease patients." Roder C., Peters V., Kasuya H., Nishizawa T., Wakita S., Berg D., Schulte C., Khan N., Tatagiba M., Krischek B. Eur. J. Paediatr. Neurol. 15:117-122(2011) [PubMed: 20970362] [Abstract] Cited for: VARIANT MYMY5 HIS-179. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. Translation: CAI13864.1. 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. |
| IPI | IPI00008603. |
| PIR | ATHUSM. A35020. |
| RefSeq | NP_001135417.1. NM_001141945.1. NP_001604.1. NM_001613.2. |
| UniGene | Hs.500483. |
3D structure databases | |
| ProteinModelPortal | P62736. |
| SMR | P62736. Positions 6-377. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P62736. 10 interactions. |
| STRING | P62736. |
PTM databases | |
| PhosphoSite | P62736. |
Polymorphism databases | |
| DMDM | 51316972. |
2D gel databases | |
| REPRODUCTION-2DPAGE | IPI00008603. |
| UCD-2DPAGE | P62736. |
Proteomic databases | |
| PRIDE | P62736. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000224784; ENSP00000224784; ENSG00000107796. ENST00000458208; ENSP00000402373; ENSG00000107796. |
| GeneID | 59. |
| KEGG | hsa:59. |
| UCSC | uc001kfp.1. human. |
Organism-specific databases | |
| CTD | 59. |
| GeneCards | GC10M090684. |
| H-InvDB | HIX0009016. |
| HGNC | HGNC:130. ACTA2. |
| HPA | CAB000002. |
| MIM | 102620. gene. 611788. phenotype. 613834. phenotype. 614042. phenotype. |
| neXtProt | NX_P62736. |
| Orphanet | 91387. Familial thoracic aortic aneurysm. 2573. Moyamoya disease. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG14394. |
| HOGENOM | HBG559892. |
| HOVERGEN | HBG003771. |
| InParanoid | P62736. |
| OMA | NSICVIL. |
| OrthoDB | EOG4W9J40. |
| PhylomeDB | P62736. |
Enzyme and pathway databases | |
| Reactome | REACT_17044. Muscle contraction. |
Gene expression databases | |
| ArrayExpress | P62736. |
| Bgee | P62736. |
| CleanEx | HS_ACTA2. |
| Genevestigator | P62736. |
| GermOnline | ENSG00000107796. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004000. Actin-like. IPR020902. Actin/actin-like_CS. IPR004001. Actin_CS. [Graphical view] |
| KO | K12313. |
| PANTHER | PTHR11937. Actin_like. 1 hit. |
| Pfam | PF00022. Actin. 1 hit. [Graphical view] |
| PRINTS | PR00190. ACTIN. |
| SMART | SM00268. ACTIN. 1 hit. [Graphical view] |
| PROSITE | PS00406. ACTINS_1. 1 hit. PS00432. ACTINS_2. 1 hit. PS01132. ACTINS_ACT_LIKE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 249. |
| PMAP-CutDB | P62736. |
| SOURCE | Search... |
Entry information
| Entry name | ACTA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P62736 Secondary accession number(s): B2R8A4 Q6FI19 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 10 Human chromosome 10: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with