Reviewed, UniProtKB/Swiss-Prot P62736 (ACTA_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) [Complete proteome]

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 not processed.
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	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. Ref.13
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
Gene Ontology (GO)
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Inferred from electronic annotation. Source: InterPro
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
	Modified residue	325	1	Phosphoserine
Natural variations
	Natural variant	117	1	N → T in AAT6. Ref.13		VAR_045915
	Natural variant	118	1	R → Q in AAT6. Ref.13		VAR_045916
	Natural variant	135	1	Y → H in AAT6. Ref.13		VAR_045917
	Natural variant	149	1	R → C in AAT6. Ref.13		VAR_045918
	Natural variant	154	1	V → A in AAT6. Ref.13		VAR_045919
	Natural variant	196	1	T → S: dbSNP rs1803028.		VAR_011944
	Natural variant	258	1	R → C in AAT6. Ref.13		VAR_045920
	Natural variant	258	1	R → H in AAT6. Ref.13		VAR_045921
	Natural variant	292	1	R → G in AAT6. Ref.13		VAR_045922
	Natural variant	320	1	T → A: dbSNP rs1803027.		VAR_011945
	Natural variant	353	1	T → N in AAT6. Ref.13		VAR_045923
	Natural variant	373	1	H → P: dbSNP rs1062398.		VAR_011946
Experimental info
	Sequence conflict	234	1	S → W in AAA51577. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P62736-1 [UniParc]. Last modified August 16, 2004. Version 1. Checksum: 2D0543262DB35CA5	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

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]	"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. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., 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. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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]	"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.
[13]	"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. , Scherer S., Tung P.P., Ahn C., Buja L.M., Raman C.S., Shete S.S., 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.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. NP_001604.1.
UniGene	Hs.500483
3D structure databases
SMR	P62736. Positions 6-373.
ModBase	Search...
Protein-protein interaction databases
IntAct	P62736. 3 interactions.
STRING	P62736.
PTM databases
PhosphoSite	P62736.
2-D gel databases
HSC-2DPAGE	P62736.
REPRODUCTION-2DPAGE	IPI00008603.
Proteomic databases
PRIDE	P62736.
Genome annotation databases
Ensembl	ENST00000224784; ENSP00000224784; ENSG00000107796; Homo sapiens. [Genome view] ENST00000458208; ENSP00000402373; ENSG00000107796; Homo sapiens. [Genome view]
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.
Orphanet	2573. Moyamoya disease. 91387. Thoracic aortic aneurysm, familial form.
PharmGKB	PA24456.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P62736.
HOVERGEN	P62736.
OMA	NSICVIL
Gene expression databases
ArrayExpress	P62736.
Bgee	P62736.
CleanEx	HS_ACTA2.
Genevestigator	P62736.
GermOnline	ENSG00000107796. Homo sapiens.
Family and domain databases
InterPro	IPR004000. Actin-like. IPR004001. Actin_CS. [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
NextBio	249.
PMAP-CutDB	P62736.
SOURCE	Search...

Entry information

Entry name

ACTA_HUMAN

Accession

Primary (citable) accession number: P62736
Secondary accession number(s): B2R8A4 , P03996, P04108, Q6FI19

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 23, 1986
Last sequence update:	August 16, 2004
Last modified:	November 24, 2009
This is version 66 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.