Actin, aortic smooth muscle - Homo sapiens (Human)

Names and origin

Protein names

Recommended name:
    Actin, aortic smooth muscle
Alternative name(s):
    Alpha-actin-2
    Cell growth-inhibiting gene 46 protein

Gene names

Name:	ACTA2
Synonyms:	ACTSA, ACTVS
ORF Names:	GIG46

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	377 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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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	Cytoplasm › cytoskeleton.
Involvement in disease	Defects in ACTA2 are the cause of aortic aneurysm familial 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.
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.

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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
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW cytoskeleton Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro protein binding Inferred from electronic annotation. Source: InterPro structural molecule activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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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

Natural variations

Natural variant

117

1

N → T in AAT6.

VAR_045915

Natural variant

118

1

R → Q in AAT6.

VAR_045916

Natural variant

135

1

Y → H in AAT6.

VAR_045917

Natural variant

149

1

R → C in AAT6.

VAR_045918

Natural variant

154

1

V → A in AAT6.

VAR_045919

Natural variant

196

1

T → S: dbSNP rs1803028.

VAR_011944

Natural variant

258

1

R → C in AAT6.

VAR_045920

Natural variant

258

1

R → H in AAT6.

VAR_045921

Natural variant

292

1

R → G in AAT6.

VAR_045922

Natural variant

320

1

T → A: dbSNP rs1803027.

VAR_011945

Natural variant

353

1

T → N in AAT6.

VAR_045923

Natural variant

373

1

H → P: dbSNP rs1062398.

VAR_011946

Experimental info

Sequence conflict

234

1

S → W in AAA51577. Ref.2

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Sequences

Sequence

Length

Mass (Da)

Tools

P62736-1 [UniParc].

Last modified August 16, 2004. Version 1.
Checksum: 2D0543262DB35CA5
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FASTA

377

42,009

        10         20         30         40         50         60 
MCEEEDSTAL VCDNGSGLCK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA 

        70         80         90        100        110        120 
QSKRGILTLK YPIEHGIITN WDDMEKIWHH SFYNELRVAP EEHPTLLTEA PLNPKANREK 

       130        140        150        160        170        180 
MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL 

       190        200        210        220        230        240 
DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK 

       250        260        270        280        290        300 
SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV 

       310        320        330        340        350        360 
LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIS 

       370 
KQEYDEAGPS IVHRKCF

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References

	« Hide 'large scale' referencesShow '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]	"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].
[6]	"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.
[7]	"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.
[8]	"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.
[9]	"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.
[10]	"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.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
	X13839 mRNA. Translation: CAA32064.1. J05192 mRNA. Translation: AAA51577.1. AY692464 mRNA. Translation: AAW29811.1. CR536518 mRNA. Translation: CAG38756.1. AL157394 Genomic DNA. Translation: CAI13864.1. 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.
PIR	ATHUSM. A35020.
RefSeq	NP_001604.1.
UniGene	Hs.500483
3D structure databases
SMR	P62736. Positions 6-373.
ModBase	Search...
Protein-protein interaction databases
IntAct	P62736.
PTM databases
PhosphoSite	P62736.
2-D gel databases
HSC-2DPAGE	P62736.
REPRODUCTION-2DPAGE	IPI00008603.
Genome annotation databases
Ensembl	ENSG00000107796. Homo sapiens. [Contig view]
GeneID	59.
KEGG	hsa:59.
Organism-specific databases
H-InvDB	HIX0009016.
HGNC	HGNC:130. ACTA2.
HPA	CAB000002.
MIM	102620. gene. 611788. phenotype.
Orphanet	91387. Thoracic aortic aneurysm, familial form.
PharmGKB	PA24456.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P62736.
HOVERGEN	P62736.
Gene expression databases
CleanEx	HS_ACTA2.
GermOnline	ENSG00000107796. Homo sapiens.
Family and domain databases
InterPro	IPR004001. Actin_CS. IPR004000. Actin_like. [Graphical view]
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 Resources
LinkHub	P62736.
NextBio	249.
SOURCE	Search...

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Entry information

Entry name

ACTA_HUMAN

Accession

Primary (citable) accession number: P62736
Secondary accession number(s): P03996, P04108, Q6FI19

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 1986
Last sequence update:	August 16, 2004
Last modified:	November 25, 2008
This is version 53 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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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

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Sequence annotation (Features)

Molecule processing

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

2-D gel databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents