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P68133

- ACTS_HUMAN

UniProt

P68133 - ACTS_HUMAN

Protein

Actin, alpha skeletal muscle

Gene

ACTA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 1 (21 Jul 1986)
      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. ADP binding Source: UniProtKB
    2. ATP binding Source: UniProtKB
    3. myosin binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. structural constituent of cytoskeleton Source: UniProtKB

    GO - Biological processi

    1. cell growth Source: Ensembl
    2. muscle contraction Source: UniProtKB
    3. muscle filament sliding Source: Reactome
    4. response to extracellular stimulus Source: Ensembl
    5. response to lithium ion Source: Ensembl
    6. response to mechanical stimulus Source: Ensembl
    7. response to steroid hormone Source: Ensembl
    8. skeletal muscle fiber adaptation Source: Ensembl
    9. skeletal muscle fiber development Source: UniProtKB
    10. skeletal muscle thin filament assembly Source: UniProtKB

    Keywords - Molecular functioni

    Muscle protein

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_16969. Striated Muscle Contraction.
    SignaLinkiP68133.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Actin, alpha skeletal muscle
    Alternative name(s):
    Alpha-actin-1
    Gene namesi
    Name:ACTA1
    Synonyms:ACTA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:129. ACTA1.

    Subcellular locationi

    GO - Cellular componenti

    1. actin cytoskeleton Source: UniProtKB
    2. actin filament Source: UniProtKB
    3. blood microparticle Source: UniProt
    4. cytosol Source: Reactome
    5. extracellular space Source: UniProt
    6. extracellular vesicular exosome Source: UniProtKB
    7. sarcomere Source: UniProtKB
    8. stress fiber Source: UniProtKB
    9. striated muscle thin filament Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Nemaline myopathy 3 (NEM3) [MIM:161800]: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31D → Y in NEM3; some patients have core lesions on muscle biopsy. 1 Publication
    VAR_062424
    Natural varianti27 – 271D → N in NEM3.
    VAR_062425
    Natural varianti37 – 371V → L in NEM3. 1 Publication
    VAR_062426
    Natural varianti40 – 401P → L in NEM3. 1 Publication
    VAR_062427
    Natural varianti42 – 421H → Y in NEM3; severe. 2 Publications
    VAR_015579
    Natural varianti43 – 431Q → R in NEM3. 1 Publication
    VAR_062428
    Natural varianti44 – 441G → V in NEM3.
    VAR_062429
    Natural varianti45 – 451V → F in NEM3.
    VAR_062430
    Natural varianti66 – 661I → N in NEM3. 1 Publication
    VAR_062431
    Natural varianti68 – 681T → I in NEM3. 1 Publication
    VAR_062432
    Natural varianti74 – 741E → K in NEM3. 1 Publication
    VAR_062433
    Natural varianti75 – 751H → L in NEM3. 1 Publication
    VAR_062434
    Natural varianti75 – 751H → R in NEM3. 1 Publication
    VAR_062435
    Natural varianti77 – 771I → L in NEM3. 1 Publication
    VAR_062436
    Natural varianti79 – 791T → A in NEM3. 1 Publication
    VAR_062437
    Natural varianti85 – 851E → K in NEM3. 1 Publication
    VAR_062438
    Natural varianti96 – 961L → P in NEM3; autosomal recessive. 1 Publication
    VAR_011681
    Natural varianti116 – 1161A → T in NEM3.
    VAR_062439
    Natural varianti117 – 1171N → S in NEM3; autosomal dominant. 3 Publications
    VAR_011682
    Natural varianti117 – 1171N → T in NEM3.
    VAR_062440
    Natural varianti118 – 1181R → H in NEM3.
    VAR_062441
    Natural varianti134 – 1341M → V in NEM3; autosomal dominant. 2 Publications
    VAR_013470
    Natural varianti136 – 1361V → A in NEM3. 1 Publication
    VAR_062442
    Natural varianti138 – 1381I → M in NEM3; autosomal recessive. 2 Publications
    VAR_011683
    Natural varianti140 – 1401A → P in NEM3.
    VAR_062443
    Natural varianti142 – 1421L → P in NEM3.
    VAR_062444
    Natural varianti148 – 1481G → D in NEM3. 1 Publication
    VAR_062445
    Natural varianti150 – 1501T → N in NEM3.
    VAR_062446
    Natural varianti156 – 1561D → N in NEM3.
    VAR_062447
    Natural varianti165 – 1651V → M in NEM3; results in sequestration of sarcomeric and Z line proteins into intranuclear aggregates; there is some evidence of muscle regeneration suggesting a compensatory effect. 2 Publications
    VAR_062448
    Natural varianti172 – 1721A → G in NEM3.
    VAR_062449
    Natural varianti181 – 1811D → G in NEM3. 1 Publication
    VAR_062450
    Natural varianti181 – 1811D → H in NEM3.
    VAR_062451
    Natural varianti181 – 1811D → N in NEM3.
    VAR_062452
    Natural varianti184 – 1841G → D in NEM3; mild. 2 Publications
    VAR_015580
    Natural varianti185 – 1851R → C in NEM3; severe. 1 Publication
    VAR_015582
    Natural varianti185 – 1851R → D in NEM3; requires 2 nucleotide substitutions.
    VAR_062453
    Natural varianti185 – 1851R → G in NEM3; autosomal dominant; severe. 3 Publications
    VAR_015581
    Natural varianti185 – 1851R → S in NEM3.
    VAR_062454
    Natural varianti198 – 1981R → L in NEM3.
    VAR_062455
    Natural varianti199 – 1991G → S in NEM3. 1 Publication
    VAR_062456
    Natural varianti226 – 2261E → G in NEM3. 1 Publication
    VAR_062457
    Natural varianti226 – 2261E → Q in NEM3.
    VAR_062458
    Natural varianti227 – 2271N → V in NEM3; requires 2 nucleotide substitutions.
    VAR_062459
    Natural varianti229 – 2291M → I in NEM3. 1 Publication
    VAR_062460
    Natural varianti229 – 2291M → T in NEM3.
    VAR_062461
    Natural varianti229 – 2291M → V in NEM3. 1 Publication
    VAR_062462
    Natural varianti243 – 2431E → K in NEM3.
    VAR_062463
    Natural varianti248 – 2481Q → K in NEM3.
    VAR_062464
    Natural varianti248 – 2481Q → R in NEM3. 1 Publication
    VAR_062465
    Natural varianti253 – 2531G → D in NEM3. 1 Publication
    VAR_062466
    Natural varianti258 – 2581R → H in NEM3; severe. 1 Publication
    VAR_015583
    Natural varianti258 – 2581R → L in NEM3.
    VAR_062467
    Natural varianti261 – 2611E → V in NEM3; autosomal recessive. 1 Publication
    VAR_011685
    Natural varianti265 – 2651Q → L in NEM3; severe. 1 Publication
    VAR_015584
    Natural varianti270 – 2701G → C in NEM3; autosomal dominant. 3 Publications
    VAR_011686
    Natural varianti270 – 2701G → D in NEM3. 1 Publication
    VAR_062468
    Natural varianti270 – 2701G → R in NEM3.
    VAR_062469
    Natural varianti271 – 2711M → R in NEM3; autosomal dominant. 1 Publication
    VAR_013471
    Natural varianti274 – 2741A → E in NEM3.
    VAR_062470
    Natural varianti281 – 2811Y → H in NEM3. 1 Publication
    VAR_062471
    Natural varianti282 – 2821N → K in NEM3; severe. 2 Publications
    VAR_015585
    Natural varianti285 – 2851M → K in NEM3.
    VAR_062472
    Natural varianti288 – 2881D → G in NEM3; severe. 2 Publications
    VAR_015586
    Natural varianti336 – 3361E → A in NEM3. 1 Publication
    VAR_062473
    Natural varianti338 – 3381K → E in NEM3. 1 Publication
    VAR_062474
    Natural varianti338 – 3381K → I in NEM3.
    VAR_062475
    Natural varianti350 – 3501S → L in NEM3.
    VAR_062476
    Natural varianti359 – 3591I → L in NEM3; autosomal dominant; severe. 2 Publications
    VAR_015587
    Natural varianti372 – 3721V → F in NEM3; severe. 1 Publication
    VAR_011687
    Natural varianti374 – 3741R → S in NEM3.
    VAR_062477
    Natural varianti375 – 3751K → E in NEM3. 1 Publication
    VAR_062478
    Natural varianti375 – 3751K → Q in NEM3. 1 Publication
    VAR_062479
    Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]: A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171G → R in MPCETM. 1 Publication
    VAR_011680
    Natural varianti165 – 1651V → L in MPCETM. 2 Publications
    VAR_011684
    Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti223 – 2231L → P in CFTD. 1 Publication
    VAR_032917
    Natural varianti294 – 2941D → V in CFTD; results in decreased motility due to abnormal interactions between actin and tropomyosin with tropomyosin stabilized in the 'off' position; the mutant protein incorporates into actin filaments and does not result in increased actin aggregation or disruption of the sarcomere. 1 Publication
    VAR_032918
    Natural varianti334 – 3341P → S in CFTD. 1 Publication
    VAR_032919

    Keywords - Diseasei

    Disease mutation, Nemaline myopathy

    Organism-specific databases

    MIMi161800. phenotype.
    255310. phenotype.
    Orphaneti171439. Childhood-onset nemaline myopathy.
    2020. Congenital fiber-type disproportion myopathy.
    98904. Congenital myopathy with excess of thin filaments.
    171433. Intermediate nemaline myopathy.
    171430. Severe congenital nemaline myopathy.
    171436. Typical nemaline myopathy.
    PharmGKBiPA24455.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Propeptidei1 – 22Removed in mature formBy similarityPRO_0000000844
    Chaini3 – 377375Actin, alpha skeletal musclePRO_0000000845Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei3 – 31N-acetylaspartateBy similarity
    Modified residuei46 – 461Methionine (R)-sulfoxideBy similarity
    Modified residuei49 – 491Methionine (R)-sulfoxideBy similarity
    Modified residuei63 – 631N6-malonyllysine1 Publication
    Modified residuei75 – 751Tele-methylhistidineBy similarity
    Modified residuei86 – 861N6-methyllysine1 Publication

    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.

    Keywords - PTMi

    Acetylation, Methylation, Oxidation

    Proteomic databases

    MaxQBiP68133.
    PRIDEiP68133.

    PTM databases

    PhosphoSiteiP68133.

    Expressioni

    Gene expression databases

    ArrayExpressiP68133.
    BgeeiP68133.
    CleanExiHS_ACTA1.
    GenevestigatoriP68133.

    Organism-specific databases

    HPAiCAB000045.
    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. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X By similarity. Interacts with TTID. Interacts (via its C-terminus) with USP25; the interaction occurs for all USP25 isoforms but is strongest for isoform USP25m in muscle differentiating cells.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi106573. 95 interactions.
    IntActiP68133. 14 interactions.
    MINTiMINT-135471.
    STRINGi9606.ENSP00000355645.

    Structurei

    Secondary structure

    1
    377
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi10 – 134
    Beta strandi19 – 213
    Beta strandi30 – 334
    Turni59 – 613
    Helixi81 – 9313
    Helixi100 – 1023
    Beta strandi105 – 1095
    Helixi115 – 12713
    Beta strandi132 – 1387
    Helixi139 – 1468
    Beta strandi154 – 1574
    Beta strandi162 – 1654
    Helixi174 – 1763
    Beta strandi178 – 1803
    Helixi186 – 19712
    Helixi205 – 21814
    Helixi225 – 23410
    Beta strandi240 – 2434
    Beta strandi249 – 2524
    Helixi255 – 26410
    Helixi266 – 2683
    Helixi277 – 2848
    Turni289 – 2913
    Helixi292 – 2976
    Beta strandi299 – 3024
    Helixi312 – 3209
    Turni335 – 3384
    Turni340 – 3423
    Helixi347 – 3504
    Helixi354 – 3574
    Beta strandi358 – 3603
    Helixi361 – 3666
    Helixi371 – 3755

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1T44X-ray2.00A8-377[»]
    ProteinModelPortaliP68133.
    SMRiP68133. Positions 6-377.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP68133.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the actin family.Curated

    Phylogenomic databases

    HOGENOMiHOG000233340.
    HOVERGENiHBG003771.
    InParanoidiP68133.
    KOiK10354.
    OMAiILMETGM.
    OrthoDBiEOG72RMZ1.
    PhylomeDBiP68133.
    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.

    P68133-1 [UniParc]FASTAAdd to Basket

    « Hide

    MCDEDETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG    50
    QKDSYVGDEA QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP 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
    MSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS 350
    LSTFQQMWIT KQEYDEAGPS IVHRKCF 377
    Length:377
    Mass (Da):42,051
    Last modified:July 21, 1986 - v1
    Checksum:iDF2A3A046346A179
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31D → Y in NEM3; some patients have core lesions on muscle biopsy. 1 Publication
    VAR_062424
    Natural varianti17 – 171G → R in MPCETM. 1 Publication
    VAR_011680
    Natural varianti27 – 271D → N in NEM3.
    VAR_062425
    Natural varianti37 – 371V → L in NEM3. 1 Publication
    VAR_062426
    Natural varianti40 – 401P → L in NEM3. 1 Publication
    VAR_062427
    Natural varianti42 – 421H → Y in NEM3; severe. 2 Publications
    VAR_015579
    Natural varianti43 – 431Q → R in NEM3. 1 Publication
    VAR_062428
    Natural varianti44 – 441G → V in NEM3.
    VAR_062429
    Natural varianti45 – 451V → F in NEM3.
    VAR_062430
    Natural varianti66 – 661I → N in NEM3. 1 Publication
    VAR_062431
    Natural varianti68 – 681T → I in NEM3. 1 Publication
    VAR_062432
    Natural varianti74 – 741E → K in NEM3. 1 Publication
    VAR_062433
    Natural varianti75 – 751H → L in NEM3. 1 Publication
    VAR_062434
    Natural varianti75 – 751H → R in NEM3. 1 Publication
    VAR_062435
    Natural varianti77 – 771I → L in NEM3. 1 Publication
    VAR_062436
    Natural varianti79 – 791T → A in NEM3. 1 Publication
    VAR_062437
    Natural varianti85 – 851E → K in NEM3. 1 Publication
    VAR_062438
    Natural varianti96 – 961L → P in NEM3; autosomal recessive. 1 Publication
    VAR_011681
    Natural varianti116 – 1161A → T in NEM3.
    VAR_062439
    Natural varianti117 – 1171N → S in NEM3; autosomal dominant. 3 Publications
    VAR_011682
    Natural varianti117 – 1171N → T in NEM3.
    VAR_062440
    Natural varianti118 – 1181R → H in NEM3.
    VAR_062441
    Natural varianti134 – 1341M → V in NEM3; autosomal dominant. 2 Publications
    VAR_013470
    Natural varianti136 – 1361V → A in NEM3. 1 Publication
    VAR_062442
    Natural varianti138 – 1381I → M in NEM3; autosomal recessive. 2 Publications
    VAR_011683
    Natural varianti140 – 1401A → P in NEM3.
    VAR_062443
    Natural varianti142 – 1421L → P in NEM3.
    VAR_062444
    Natural varianti148 – 1481G → D in NEM3. 1 Publication
    VAR_062445
    Natural varianti150 – 1501T → N in NEM3.
    VAR_062446
    Natural varianti156 – 1561D → N in NEM3.
    VAR_062447
    Natural varianti165 – 1651V → L in MPCETM. 2 Publications
    VAR_011684
    Natural varianti165 – 1651V → M in NEM3; results in sequestration of sarcomeric and Z line proteins into intranuclear aggregates; there is some evidence of muscle regeneration suggesting a compensatory effect. 2 Publications
    VAR_062448
    Natural varianti172 – 1721A → G in NEM3.
    VAR_062449
    Natural varianti181 – 1811D → G in NEM3. 1 Publication
    VAR_062450
    Natural varianti181 – 1811D → H in NEM3.
    VAR_062451
    Natural varianti181 – 1811D → N in NEM3.
    VAR_062452
    Natural varianti184 – 1841G → D in NEM3; mild. 2 Publications
    VAR_015580
    Natural varianti185 – 1851R → C in NEM3; severe. 1 Publication
    VAR_015582
    Natural varianti185 – 1851R → D in NEM3; requires 2 nucleotide substitutions.
    VAR_062453
    Natural varianti185 – 1851R → G in NEM3; autosomal dominant; severe. 3 Publications
    VAR_015581
    Natural varianti185 – 1851R → S in NEM3.
    VAR_062454
    Natural varianti198 – 1981R → L in NEM3.
    VAR_062455
    Natural varianti199 – 1991G → S in NEM3. 1 Publication
    VAR_062456
    Natural varianti223 – 2231L → P in CFTD. 1 Publication
    VAR_032917
    Natural varianti226 – 2261E → G in NEM3. 1 Publication
    VAR_062457
    Natural varianti226 – 2261E → Q in NEM3.
    VAR_062458
    Natural varianti227 – 2271N → V in NEM3; requires 2 nucleotide substitutions.
    VAR_062459
    Natural varianti229 – 2291M → I in NEM3. 1 Publication
    VAR_062460
    Natural varianti229 – 2291M → T in NEM3.
    VAR_062461
    Natural varianti229 – 2291M → V in NEM3. 1 Publication
    VAR_062462
    Natural varianti243 – 2431E → K in NEM3.
    VAR_062463
    Natural varianti248 – 2481Q → K in NEM3.
    VAR_062464
    Natural varianti248 – 2481Q → R in NEM3. 1 Publication
    VAR_062465
    Natural varianti253 – 2531G → D in NEM3. 1 Publication
    VAR_062466
    Natural varianti258 – 2581R → H in NEM3; severe. 1 Publication
    VAR_015583
    Natural varianti258 – 2581R → L in NEM3.
    VAR_062467
    Natural varianti261 – 2611E → V in NEM3; autosomal recessive. 1 Publication
    VAR_011685
    Natural varianti265 – 2651Q → L in NEM3; severe. 1 Publication
    VAR_015584
    Natural varianti270 – 2701G → C in NEM3; autosomal dominant. 3 Publications
    VAR_011686
    Natural varianti270 – 2701G → D in NEM3. 1 Publication
    VAR_062468
    Natural varianti270 – 2701G → R in NEM3.
    VAR_062469
    Natural varianti271 – 2711M → R in NEM3; autosomal dominant. 1 Publication
    VAR_013471
    Natural varianti274 – 2741A → E in NEM3.
    VAR_062470
    Natural varianti281 – 2811Y → H in NEM3. 1 Publication
    VAR_062471
    Natural varianti282 – 2821N → K in NEM3; severe. 2 Publications
    VAR_015585
    Natural varianti285 – 2851M → K in NEM3.
    VAR_062472
    Natural varianti288 – 2881D → G in NEM3; severe. 2 Publications
    VAR_015586
    Natural varianti294 – 2941D → V in CFTD; results in decreased motility due to abnormal interactions between actin and tropomyosin with tropomyosin stabilized in the 'off' position; the mutant protein incorporates into actin filaments and does not result in increased actin aggregation or disruption of the sarcomere. 1 Publication
    VAR_032918
    Natural varianti334 – 3341P → S in CFTD. 1 Publication
    VAR_032919
    Natural varianti336 – 3361E → A in NEM3. 1 Publication
    VAR_062473
    Natural varianti338 – 3381K → E in NEM3. 1 Publication
    VAR_062474
    Natural varianti338 – 3381K → I in NEM3.
    VAR_062475
    Natural varianti350 – 3501S → L in NEM3.
    VAR_062476
    Natural varianti359 – 3591I → L in NEM3; autosomal dominant; severe. 2 Publications
    VAR_015587
    Natural varianti372 – 3721V → F in NEM3; severe. 1 Publication
    VAR_011687
    Natural varianti374 – 3741R → S in NEM3.
    VAR_062477
    Natural varianti375 – 3751K → E in NEM3. 1 Publication
    VAR_062478
    Natural varianti375 – 3751K → Q in NEM3. 1 Publication
    VAR_062479

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J00068 mRNA. Translation: AAB59376.1.
    M20543 Genomic DNA. Translation: AAA60296.1.
    AF182035 Genomic DNA. Translation: AAF02694.1.
    CR536516 mRNA. Translation: CAG38754.1.
    CR541796 mRNA. Translation: CAG46595.1.
    AL160004 Genomic DNA. Translation: CAI19050.1.
    CH471098 Genomic DNA. Translation: EAW69898.1.
    BC012597 mRNA. Translation: AAH12597.1.
    CCDSiCCDS1578.1.
    PIRiA31251. ATHU.
    RefSeqiNP_001091.1. NM_001100.3.
    UniGeneiHs.1288.

    Genome annotation databases

    EnsembliENST00000366684; ENSP00000355645; ENSG00000143632.
    GeneIDi58.
    KEGGihsa:58.
    UCSCiuc001htm.3. human.

    Polymorphism databases

    DMDMi61218043.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J00068 mRNA. Translation: AAB59376.1 .
    M20543 Genomic DNA. Translation: AAA60296.1 .
    AF182035 Genomic DNA. Translation: AAF02694.1 .
    CR536516 mRNA. Translation: CAG38754.1 .
    CR541796 mRNA. Translation: CAG46595.1 .
    AL160004 Genomic DNA. Translation: CAI19050.1 .
    CH471098 Genomic DNA. Translation: EAW69898.1 .
    BC012597 mRNA. Translation: AAH12597.1 .
    CCDSi CCDS1578.1.
    PIRi A31251. ATHU.
    RefSeqi NP_001091.1. NM_001100.3.
    UniGenei Hs.1288.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1T44 X-ray 2.00 A 8-377 [» ]
    ProteinModelPortali P68133.
    SMRi P68133. Positions 6-377.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106573. 95 interactions.
    IntActi P68133. 14 interactions.
    MINTi MINT-135471.
    STRINGi 9606.ENSP00000355645.

    PTM databases

    PhosphoSitei P68133.

    Polymorphism databases

    DMDMi 61218043.

    Proteomic databases

    MaxQBi P68133.
    PRIDEi P68133.

    Protocols and materials databases

    DNASUi 58.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000366684 ; ENSP00000355645 ; ENSG00000143632 .
    GeneIDi 58.
    KEGGi hsa:58.
    UCSCi uc001htm.3. human.

    Organism-specific databases

    CTDi 58.
    GeneCardsi GC01M229567.
    GeneReviewsi ACTA1.
    HGNCi HGNC:129. ACTA1.
    HPAi CAB000045.
    HPA041271.
    MIMi 102610. gene.
    161800. phenotype.
    255310. phenotype.
    neXtProti NX_P68133.
    Orphaneti 171439. Childhood-onset nemaline myopathy.
    2020. Congenital fiber-type disproportion myopathy.
    98904. Congenital myopathy with excess of thin filaments.
    171433. Intermediate nemaline myopathy.
    171430. Severe congenital nemaline myopathy.
    171436. Typical nemaline myopathy.
    PharmGKBi PA24455.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000233340.
    HOVERGENi HBG003771.
    InParanoidi P68133.
    KOi K10354.
    OMAi ILMETGM.
    OrthoDBi EOG72RMZ1.
    PhylomeDBi P68133.
    TreeFami TF354237.

    Enzyme and pathway databases

    Reactomei REACT_16969. Striated Muscle Contraction.
    SignaLinki P68133.

    Miscellaneous databases

    ChiTaRSi ACTA1. human.
    EvolutionaryTracei P68133.
    GeneWikii Actin,_alpha_1.
    GenomeRNAii 58.
    NextBioi 245.
    PROi P68133.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P68133.
    Bgeei P68133.
    CleanExi HS_ACTA1.
    Genevestigatori P68133.

    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. "Isolation and characterization of cDNA clones for human skeletal muscle alpha actin."
      Hanauer A., Levin M., Heilig R., Daegelen D., Kahn A., Mandel J.-L.
      Nucleic Acids Res. 11:3503-3516(1983) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Skeletal muscle.
    2. "Nucleotide sequence and expression of the human skeletal alpha-actin gene: evolution of functional regulatory domains."
      Taylor A., Erba H.P., Muscat G.E.O., Kedes L.
      Genomics 3:323-336(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy."
      Nowak K.J., Wattanasirichaigoon D., Goebel H.H., Wilce M., Pelin K., Donner K., Jacob R.L., Hubner C., Oexle K., Anderson J.R., Verity C.M., North K.N.
      Nat. Genet. 23:208-212(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS NEM3 TYR-42; PRO-96; SER-117; VAL-134; ASP-184; CYS-185; HIS-258; VAL-261; LEU-265; LYS-282; GLY-288 AND PHE-372, VARIANTS MPCETM ARG-17 AND LEU-165.
    4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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: Skeletal muscle.
    8. Cited for: INTERACTION WITH TTID.
    9. "The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins."
      Bosch-Comas A., Lindsten K., Gonzalez-Duarte R., Masucci M.G., Marfany G.
      Cell. Mol. Life Sci. 63:723-734(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH USP25.
    10. Cited for: MALONYLATION AT LYS-63.
    11. Cited for: METHYLATION AT LYS-86, DEMETHYLATION BY ALKBH4.
    12. Cited for: VARIANTS NEM3 SER-117; MET-138; GLY-185; CYS-270 AND LEU-359.
    13. "Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)."
      Sparrow J.C., Nowak K.J., Durling H.J., Beggs A.H., Wallgren-Pettersson C., Romero N., Nonaka I., Laing N.G.
      Neuromuscul. Disord. 13:519-531(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    14. "Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene."
      Jungbluth H., Sewry C.A., Brown S.C., Nowak K.J., Laing N.G., Wallgren-Pettersson C., Pelin K., Manzur A.Y., Mercuri E., Dubowitz V., Muntoni F.
      Neuromuscul. Disord. 11:35-40(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NEM3 VAL-134 AND ARG-271.
    15. Cited for: VARIANTS NEM3 LEU-37; LEU-40; TYR-42; ARG-43; ASN-66; LEU-75; ARG-75; LEU-77; ALA-79; LYS-85; ALA-136; ASP-148; GLY-181; ASP-184; GLY-185; SER-199; GLY-226; VAL-229; ILE-229; ARG-248; ASP-253; CYS-270; HIS-281; LYS-282; GLY-288 AND GLN-375.
    16. Cited for: VARIANTS CFTD PRO-223; VAL-294 AND SER-334.
    17. "Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms."
      Ilkovski B., Nowak K.J., Domazetovska A., Maxwell A.L., Clement S., Davies K.E., Laing N.G., North K.N., Cooper S.T.
      Hum. Mol. Genet. 13:1727-1743(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NEM3 ILE-68; LYS-74; SER-117; MET-138; LEU-165; MET-165; GLY-185; CYS-270 AND LEU-359.
    18. Cited for: VARIANTS NEM3 TYR-3 AND ALA-336.
    19. "Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1)."
      Ohlsson M., Tajsharghi H., Darin N., Kyllerman M., Oldfors A.
      Neuromuscul. Disord. 14:471-475(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NEM3 ASP-270 AND GLU-375.
    20. "Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred."
      Hutchinson D.O., Charlton A., Laing N.G., Ilkovski B., North K.N.
      Neuromuscul. Disord. 16:113-121(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NEM3 MET-165.
    21. Cited for: VARIANT NEM3 GLU-338.
    22. "The pathogenesis of ACTA1-related congenital fiber type disproportion."
      Clarke N.F., Ilkovski B., Cooper S., Valova V.A., Robinson P.J., Nonaka I., Feng J.-J., Marston S., North K.
      Ann. Neurol. 61:552-561(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT CFTD VAL-294.
    23. Cited for: CHARACTERIZATION OF VARIANT NEM3 MET-165.

    Entry informationi

    Entry nameiACTS_HUMAN
    AccessioniPrimary (citable) accession number: P68133
    Secondary accession number(s): P02568, P99020, Q5T8M9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: July 21, 1986
    Last modified: October 1, 2014
    This is version 118 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3