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Protein

Actin, aortic smooth muscle

Gene

ACTA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_20558. Smooth Muscle Contraction.
SignaLinkiP62736.

Names & Taxonomyi

Protein namesi
Recommended name:
Actin, aortic smooth muscle
Alternative name(s):
Alpha-actin-2
Cell growth-inhibiting gene 46 protein
Gene namesi
Name:ACTA2
Synonyms:ACTSA, ACTVS
ORF Names:GIG46
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:130. ACTA2.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: Ensembl
  • cell body Source: AgBase
  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • filopodium Source: AgBase
  • lamellipodium Source: AgBase
  • protein complex Source: MGI
  • smooth muscle contractile fiber Source: Ensembl
Complete GO annotation...

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.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391R → H in AAT6. 1 Publication
VAR_062577
Natural varianti117 – 1171N → T in AAT6. 2 Publications
VAR_045915
Natural varianti118 – 1181R → Q in AAT6. 2 Publications
VAR_045916
Natural varianti135 – 1351Y → H in AAT6. 1 Publication
VAR_045917
Natural varianti145 – 1451Y → C in AAT6. 1 Publication
VAR_062578
Natural varianti149 – 1491R → C in AAT6. 3 Publications
VAR_045918
Natural varianti154 – 1541V → A in AAT6. 2 Publications
VAR_045919
Natural varianti185 – 1851R → Q in AAT6. 1 Publication
VAR_062579
Natural varianti212 – 2121R → Q in AAT6. 2 Publications
VAR_062580
Natural varianti258 – 2581R → C in AAT6. 2 Publications
VAR_045920
Natural varianti258 – 2581R → H in AAT6. 2 Publications
VAR_045921
Natural varianti292 – 2921R → G in AAT6. 1 Publication
VAR_045922
Natural varianti326 – 3261T → N in AAT6. 1 Publication
VAR_062581
Natural varianti353 – 3531T → N in AAT6. 2 Publications
VAR_045923
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
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti179 – 1791R → 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 Publications
VAR_064516
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
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti179 – 1791R → 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 Publications
VAR_064516

Keywords - Diseasei

Aortic aneurysm, Disease mutation

Organism-specific databases

MIMi611788. phenotype.
613834. phenotype.
614042. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Propeptidei1 – 22Removed in mature formBy similarityPRO_0000000738
Chaini3 – 377375Actin, aortic smooth musclePRO_0000000739Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei3 – 31N-acetylglutamateBy similarity
Modified residuei46 – 461Methionine (R)-sulfoxideBy similarity
Modified residuei49 – 491Methionine (R)-sulfoxideBy similarity
Modified residuei75 – 751Tele-methylhistidineBy similarity
Modified residuei86 – 861N6-methyllysineBy 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 promote actin repolymerization (By similarity).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).By similarity

Keywords - PTMi

Acetylation, Methylation, Oxidation

Proteomic databases

MaxQBiP62736.
PaxDbiP62736.
PRIDEiP62736.

2D gel databases

REPRODUCTION-2DPAGEIPI00008603.
UCD-2DPAGEP62736.

PTM databases

PhosphoSiteiP62736.

Miscellaneous databases

PMAP-CutDBP62736.

Expressioni

Inductioni

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

Gene expression databases

BgeeiP62736.
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.

Protein-protein interaction databases

BioGridi106574. 115 interactions.
IntActiP62736. 21 interactions.
STRINGi9606.ENSP00000224784.

Structurei

3D structure databases

ProteinModelPortaliP62736.
SMRiP62736. Positions 4-377.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the actin family.Curated

Phylogenomic databases

eggNOGiCOG5277.
GeneTreeiENSGT00760000118957.
HOGENOMiHOG000233340.
HOVERGENiHBG003771.
InParanoidiP62736.
KOiK12313.
OMAiAMCEEED.
OrthoDBiEOG72RMZ1.
PhylomeDBiP62736.
TreeFamiTF354237.

Family and domain databases

InterProiIPR004000. Actin.
IPR020902. Actin/actin-like_CS.
IPR004001. Actin_CS.
[Graphical view]
PANTHERiPTHR11937. PTHR11937. 1 hit.
PfamiPF00022. Actin. 1 hit.
[Graphical view]
PRINTSiPR00190. ACTIN.
SMARTiSM00268. ACTIN. 1 hit.
[Graphical view]
PROSITEiPS00406. ACTINS_1. 1 hit.
PS00432. ACTINS_2. 1 hit.
PS01132. ACTINS_ACT_LIKE. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti234 – 2341S → W in AAA51577 (PubMed:2295650).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391R → H in AAT6. 1 Publication
VAR_062577
Natural varianti117 – 1171N → T in AAT6. 2 Publications
VAR_045915
Natural varianti118 – 1181R → Q in AAT6. 2 Publications
VAR_045916
Natural varianti135 – 1351Y → H in AAT6. 1 Publication
VAR_045917
Natural varianti145 – 1451Y → C in AAT6. 1 Publication
VAR_062578
Natural varianti149 – 1491R → C in AAT6. 3 Publications
VAR_045918
Natural varianti154 – 1541V → A in AAT6. 2 Publications
VAR_045919
Natural varianti179 – 1791R → 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 Publications
VAR_064516
Natural varianti185 – 1851R → Q in AAT6. 1 Publication
VAR_062579
Natural varianti196 – 1961T → S.
Corresponds to variant rs1803028 [ dbSNP | Ensembl ].
VAR_011944
Natural varianti212 – 2121R → Q in AAT6. 2 Publications
VAR_062580
Natural varianti258 – 2581R → C in AAT6. 2 Publications
VAR_045920
Natural varianti258 – 2581R → H in AAT6. 2 Publications
VAR_045921
Natural varianti292 – 2921R → G in AAT6. 1 Publication
VAR_045922
Natural varianti320 – 3201T → A.
Corresponds to variant rs1803027 [ dbSNP | Ensembl ].
VAR_011945
Natural varianti326 – 3261T → N in AAT6. 1 Publication
VAR_062581
Natural varianti353 – 3531T → N in AAT6. 2 Publications
VAR_045923
Natural varianti373 – 3731H → P.
Corresponds to variant rs1062398 [ dbSNP | Ensembl ].
VAR_011946

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. 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.
CCDSiCCDS7392.1.
PIRiA35020. ATHUSM.
RefSeqiNP_001135417.1. NM_001141945.1.
NP_001604.1. NM_001613.2.
UniGeneiHs.500483.

Genome annotation databases

EnsembliENST00000224784; ENSP00000224784; ENSG00000107796.
ENST00000458208; ENSP00000402373; ENSG00000107796.
GeneIDi59.
KEGGihsa:59.
UCSCiuc001kfp.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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. 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.
CCDSiCCDS7392.1.
PIRiA35020. ATHUSM.
RefSeqiNP_001135417.1. NM_001141945.1.
NP_001604.1. NM_001613.2.
UniGeneiHs.500483.

3D structure databases

ProteinModelPortaliP62736.
SMRiP62736. Positions 4-377.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106574. 115 interactions.
IntActiP62736. 21 interactions.
STRINGi9606.ENSP00000224784.

PTM databases

PhosphoSiteiP62736.

Polymorphism and mutation databases

BioMutaiACTA2.
DMDMi51316972.

2D gel databases

REPRODUCTION-2DPAGEIPI00008603.
UCD-2DPAGEP62736.

Proteomic databases

MaxQBiP62736.
PaxDbiP62736.
PRIDEiP62736.

Protocols and materials databases

DNASUi59.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000224784; ENSP00000224784; ENSG00000107796.
ENST00000458208; ENSP00000402373; ENSG00000107796.
GeneIDi59.
KEGGihsa:59.
UCSCiuc001kfp.3. human.

Organism-specific databases

CTDi59.
GeneCardsiGC10M090684.
GeneReviewsiACTA2.
HGNCiHGNC:130. ACTA2.
HPAiCAB000002.
CAB013531.
HPA041264.
HPA041271.
MIMi102620. gene.
611788. phenotype.
613834. phenotype.
614042. phenotype.
neXtProtiNX_P62736.
Orphaneti91387. Familial thoracic aortic aneurysm and aortic dissection.
2573. Moyamoya disease.
404463. Multisystemic smooth muscle dysfunction syndrome.
PharmGKBiPA24456.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5277.
GeneTreeiENSGT00760000118957.
HOGENOMiHOG000233340.
HOVERGENiHBG003771.
InParanoidiP62736.
KOiK12313.
OMAiAMCEEED.
OrthoDBiEOG72RMZ1.
PhylomeDBiP62736.
TreeFamiTF354237.

Enzyme and pathway databases

ReactomeiREACT_20558. Smooth Muscle Contraction.
SignaLinkiP62736.

Miscellaneous databases

GeneWikiiACTA2.
GenomeRNAii59.
NextBioi20871919.
PMAP-CutDBP62736.
PROiP62736.
SOURCEiSearch...

Gene expression databases

BgeeiP62736.
CleanExiHS_ACTA2.
ExpressionAtlasiP62736. baseline and differential.
GenevisibleiP62736. HS.

Family and domain databases

InterProiIPR004000. Actin.
IPR020902. Actin/actin-like_CS.
IPR004001. Actin_CS.
[Graphical view]
PANTHERiPTHR11937. PTHR11937. 1 hit.
PfamiPF00022. Actin. 1 hit.
[Graphical view]
PRINTSiPR00190. ACTIN.
SMARTiSM00268. ACTIN. 1 hit.
[Graphical view]
PROSITEiPS00406. ACTINS_1. 1 hit.
PS00432. ACTINS_2. 1 hit.
PS01132. ACTINS_ACT_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 331-377.
  11. "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] [Europe PMC] [Abstract]
    Cited for: INDUCTION, IDENTIFICATION BY MASS SPECTROMETRY.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. Cited for: VARIANTS AAT6 THR-117; GLN-118; HIS-135; CYS-149; ALA-154; CYS-258; HIS-258; GLY-292 AND ASN-353.
  14. 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.
  15. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS AAT6 CYS-145; CYS-149 AND GLN-212, PREDISPOSITION TO A VARIETY OF VASCULAR DISEASES.
  16. Cited for: VARIANT MSMDYS HIS-179.
  17. Cited for: VARIANT MYMY5 HIS-179.

Entry informationi

Entry nameiACTA_HUMAN
AccessioniPrimary (citable) accession number: P62736
Secondary accession number(s): B2R8A4
, P03996, P04108, Q6FI19
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 1986
Last sequence update: August 16, 2004
Last modified: June 24, 2015
This is version 122 of the entry and version 1 of the sequence. [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

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.