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P62736

- ACTA_HUMAN

UniProt

P62736 - ACTA_HUMAN

Protein

Actin, aortic smooth muscle

Gene

ACTA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (16 Aug 2004)
      Previous versions | rss
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    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

    1. ATP binding Source: UniProtKB-KW
    2. protein kinase binding Source: ParkinsonsUK-UCL

    GO - Biological processi

    1. glomerular mesangial cell development Source: UniProtKB
    2. muscle contraction Source: Reactome
    3. regulation of blood pressure Source: Ensembl
    4. response to virus Source: UniProtKB
    5. vascular smooth muscle contraction Source: Ensembl

    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: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:130. ACTA2.

    Subcellular locationi

    GO - Cellular componenti

    1. actin cytoskeleton Source: Ensembl
    2. cytoplasm Source: UniProtKB
    3. cytosol Source: Reactome
    4. extracellular space Source: UniProt
    5. protein complex Source: MGI
    6. smooth muscle contractile fiber Source: Ensembl

    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) [MIM:611788]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [MIM:614042]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [MIM:613834]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    PharmGKBiPA24456.

    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

    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

    ArrayExpressiP62736.
    BgeeiP62736.
    CleanExiHS_ACTA2.
    GenevestigatoriP62736.

    Organism-specific databases

    HPAiCAB000002.
    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. 57 interactions.
    IntActiP62736. 19 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.
    HOGENOMiHOG000233340.
    HOVERGENiHBG003771.
    InParanoidiP62736.
    KOiK12313.
    OMAiNSICVIL.
    OrthoDBiEOG72RMZ1.
    PhylomeDBiP62736.
    TreeFamiTF354237.

    Family and domain databases

    InterProiIPR004000. Actin-related.
    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

    MCEEEDSTAL VCDNGSGLCK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG    50
    QKDSYVGDEA QSKRGILTLK YPIEHGIITN WDDMEKIWHH SFYNELRVAP 100
    EEHPTLLTEA PLNPKANREK MTQIMFETFN VPAMYVAIQA VLSLYASGRT 150
    TGIVLDSGDG VTHNVPIYEG YALPHAIMRL DLAGRDLTDY LMKILTERGY 200
    SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK SYELPDGQVI 250
    TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV 300
    LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS 350
    LSTFQQMWIS KQEYDEAGPS IVHRKCF 377
    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:
    EMBL
    GenBank
    DDBJ
    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.

    Polymorphism databases

    DMDMi51316972.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS7392.1.
    PIRi A35020. ATHUSM.
    RefSeqi NP_001135417.1. NM_001141945.1.
    NP_001604.1. NM_001613.2.
    UniGenei Hs.500483.

    3D structure databases

    ProteinModelPortali P62736.
    SMRi P62736. Positions 4-377.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106574. 57 interactions.
    IntActi P62736. 19 interactions.
    STRINGi 9606.ENSP00000224784.

    PTM databases

    PhosphoSitei P62736.

    Polymorphism databases

    DMDMi 51316972.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00008603.
    UCD-2DPAGE P62736.

    Proteomic databases

    MaxQBi P62736.
    PaxDbi P62736.
    PRIDEi P62736.

    Protocols and materials databases

    DNASUi 59.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000224784 ; ENSP00000224784 ; ENSG00000107796 .
    ENST00000458208 ; ENSP00000402373 ; ENSG00000107796 .
    GeneIDi 59.
    KEGGi hsa:59.
    UCSCi uc001kfp.3. human.

    Organism-specific databases

    CTDi 59.
    GeneCardsi GC10M090684.
    GeneReviewsi ACTA2.
    HGNCi HGNC:130. ACTA2.
    HPAi CAB000002.
    HPA041271.
    MIMi 102620. gene.
    611788. phenotype.
    613834. phenotype.
    614042. phenotype.
    neXtProti NX_P62736.
    Orphaneti 91387. Familial thoracic aortic aneurysm and aortic dissection.
    2573. Moyamoya disease.
    PharmGKBi PA24456.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5277.
    HOGENOMi HOG000233340.
    HOVERGENi HBG003771.
    InParanoidi P62736.
    KOi K12313.
    OMAi NSICVIL.
    OrthoDBi EOG72RMZ1.
    PhylomeDBi P62736.
    TreeFami TF354237.

    Enzyme and pathway databases

    Reactomei REACT_20558. Smooth Muscle Contraction.
    SignaLinki P62736.

    Miscellaneous databases

    GeneWikii ACTA2.
    GenomeRNAii 59.
    NextBioi 249.
    PMAP-CutDB P62736.
    PROi P62736.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P62736.
    Bgeei P62736.
    CleanExi HS_ACTA2.
    Genevestigatori P62736.

    Family and domain databases

    InterProi IPR004000. Actin-related.
    IPR020902. Actin/actin-like_CS.
    IPR004001. Actin_CS.
    [Graphical view ]
    PANTHERi PTHR11937. PTHR11937. 1 hit.
    Pfami PF00022. Actin. 1 hit.
    [Graphical view ]
    PRINTSi PR00190. ACTIN.
    SMARTi SM00268. ACTIN. 1 hit.
    [Graphical view ]
    PROSITEi PS00406. ACTINS_1. 1 hit.
    PS00432. ACTINS_2. 1 hit.
    PS01132. ACTINS_ACT_LIKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 116 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