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Protein

Actin, alpha skeletal muscle

Gene

ACTA1

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

  • ADP binding Source: UniProtKB
  • ATP binding Source: UniProtKB
  • myosin binding Source: UniProtKB
  • structural constituent of cytoskeleton Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-390522. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:129. ACTA1.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: UniProtKB
  • actin filament Source: UniProtKB
  • blood microparticle Source: UniProtKB
  • cell body Source: AgBase
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • filopodium Source: AgBase
  • lamellipodium Source: AgBase
  • sarcomere Source: UniProtKB
  • stress fiber Source: UniProtKB
  • striated muscle thin filament Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Nemaline myopathy 3 (NEM3)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:161800
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31D → Y in NEM3; some patients have core lesions on muscle biopsy. 1 Publication
Corresponds to variant rs121909527 [ dbSNP | Ensembl ].
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.
Corresponds to variant rs398123562 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121909519 [ dbSNP | Ensembl ].
VAR_011681
Natural varianti116 – 1161A → T in NEM3.
VAR_062439
Natural varianti117 – 1171N → S in NEM3; autosomal dominant. 3 Publications
Corresponds to variant rs121909520 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121909526 [ dbSNP | Ensembl ].
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. 3 Publications
Corresponds to variant rs121909522 [ dbSNP | Ensembl ].
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
Corresponds to variant rs794727714 [ dbSNP | Ensembl ].
VAR_062462
Natural varianti243 – 2431E → K in NEM3.
Corresponds to variant rs367543051 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121909523 [ dbSNP | Ensembl ].
VAR_011685
Natural varianti265 – 2651Q → L in NEM3; severe. 1 Publication
VAR_015584
Natural varianti270 – 2701G → C in NEM3; autosomal dominant. 3 Publications
Corresponds to variant rs121909525 [ dbSNP | Ensembl ].
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; formation of rod-like structure. 3 Publications
VAR_015586
Natural varianti328 – 3281K → N in NEM3; no effect on actin structure; higher sensitivty to calcium. 1 Publication
VAR_076427
Natural varianti336 – 3361E → A in NEM3. 1 Publication
Corresponds to variant rs121909528 [ dbSNP | Ensembl ].
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 varianti358 – 3581W → C in NEM3; found in a patient with a rare combination of NEM3 and dilated cardiomyopathy. 1 Publication
VAR_076428
Natural varianti359 – 3591I → L in NEM3; autosomal dominant; severe. 2 Publications
Corresponds to variant rs121909524 [ dbSNP | Ensembl ].
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)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:161800
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171G → R in MPCETM. 1 Publication
Corresponds to variant rs121909521 [ dbSNP | Ensembl ].
VAR_011680
Natural varianti165 – 1651V → L in MPCETM. 2 Publications
Corresponds to variant rs121909522 [ dbSNP | Ensembl ].
VAR_011684
Myopathy, congenital, with fiber-type disproportion (CFTD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:255310
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti223 – 2231L → P in CFTD. 1 Publication
Corresponds to variant rs121909530 [ dbSNP | Ensembl ].
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. 2 Publications
Corresponds to variant rs121909529 [ dbSNP | Ensembl ].
VAR_032918
Natural varianti334 – 3341P → S in CFTD. 1 Publication
Corresponds to variant rs121909531 [ dbSNP | Ensembl ].
VAR_032919
Myopathy, scapulohumeroperoneal (SHPM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable.
See also OMIM:616852
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti197 – 1971E → D in SHPM; no effect on cytoskeleton structure. 1 Publication
VAR_076426

Keywords - Diseasei

Disease mutation, Nemaline myopathy

Organism-specific databases

MalaCardsiACTA1.
MIMi161800. phenotype.
255310. phenotype.
616852. 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.

Polymorphism and mutation databases

BioMutaiACTA1.
DMDMi61218043.

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
Cross-linki52 – 52Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-272); by Vibrio toxins RtxA and VgrG1By similarity
Modified residuei63 – 631N6-malonyllysine1 Publication
Modified residuei86 – 861N6-methyllysine1 Publication
Cross-linki272 – 272Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-52); by Vibrio toxins RtxA and VgrG1By 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.1 Publication
(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).2 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Oxidation

Proteomic databases

EPDiP68133.
MaxQBiP68133.
PaxDbiP68133.
PeptideAtlasiP68133.
PRIDEiP68133.

PTM databases

iPTMnetiP68133.
PhosphoSiteiP68133.
SwissPalmiP68133.

Expressioni

Gene expression databases

BgeeiENSG00000143632.
CleanExiHS_ACTA1.
ExpressionAtlasiP68133. baseline and differential.
GenevisibleiP68133. HS.

Organism-specific databases

HPAiCAB000045.
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. 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

GO - Molecular functioni

  • myosin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi106573. 126 interactions.
IntActiP68133. 16 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:
PDBei
RCSB PDBi
PDBji
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

eggNOGiKOG0676. Eukaryota.
COG5277. LUCA.
GeneTreeiENSGT00760000118957.
HOGENOMiHOG000233340.
HOVERGENiHBG003771.
InParanoidiP68133.
KOiK10354.
OMAiIXMESAG.
OrthoDBiEOG091G08LD.
PhylomeDBiP68133.
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.

P68133-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MCDEDETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG
60 70 80 90 100
QKDSYVGDEA QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP
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
MSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS
360 370
LSTFQQMWIT KQEYDEAGPS IVHRKCF
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
Corresponds to variant rs121909527 [ dbSNP | Ensembl ].
VAR_062424
Natural varianti17 – 171G → R in MPCETM. 1 Publication
Corresponds to variant rs121909521 [ dbSNP | Ensembl ].
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.
Corresponds to variant rs398123562 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121909519 [ dbSNP | Ensembl ].
VAR_011681
Natural varianti116 – 1161A → T in NEM3.
VAR_062439
Natural varianti117 – 1171N → S in NEM3; autosomal dominant. 3 Publications
Corresponds to variant rs121909520 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121909526 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121909522 [ dbSNP | Ensembl ].
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. 3 Publications
Corresponds to variant rs121909522 [ dbSNP | Ensembl ].
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 varianti197 – 1971E → D in SHPM; no effect on cytoskeleton structure. 1 Publication
VAR_076426
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
Corresponds to variant rs121909530 [ dbSNP | Ensembl ].
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
Corresponds to variant rs794727714 [ dbSNP | Ensembl ].
VAR_062462
Natural varianti243 – 2431E → K in NEM3.
Corresponds to variant rs367543051 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121909523 [ dbSNP | Ensembl ].
VAR_011685
Natural varianti265 – 2651Q → L in NEM3; severe. 1 Publication
VAR_015584
Natural varianti270 – 2701G → C in NEM3; autosomal dominant. 3 Publications
Corresponds to variant rs121909525 [ dbSNP | Ensembl ].
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; formation of rod-like structure. 3 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. 2 Publications
Corresponds to variant rs121909529 [ dbSNP | Ensembl ].
VAR_032918
Natural varianti328 – 3281K → N in NEM3; no effect on actin structure; higher sensitivty to calcium. 1 Publication
VAR_076427
Natural varianti334 – 3341P → S in CFTD. 1 Publication
Corresponds to variant rs121909531 [ dbSNP | Ensembl ].
VAR_032919
Natural varianti336 – 3361E → A in NEM3. 1 Publication
Corresponds to variant rs121909528 [ dbSNP | Ensembl ].
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 varianti358 – 3581W → C in NEM3; found in a patient with a rare combination of NEM3 and dilated cardiomyopathy. 1 Publication
VAR_076428
Natural varianti359 – 3591I → L in NEM3; autosomal dominant; severe. 2 Publications
Corresponds to variant rs121909524 [ dbSNP | Ensembl ].
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:
EMBLi
GenBanki
DDBJi
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.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi106573. 126 interactions.
IntActiP68133. 16 interactions.
MINTiMINT-135471.
STRINGi9606.ENSP00000355645.

PTM databases

iPTMnetiP68133.
PhosphoSiteiP68133.
SwissPalmiP68133.

Polymorphism and mutation databases

BioMutaiACTA1.
DMDMi61218043.

Proteomic databases

EPDiP68133.
MaxQBiP68133.
PaxDbiP68133.
PeptideAtlasiP68133.
PRIDEiP68133.

Protocols and materials databases

DNASUi58.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366684; ENSP00000355645; ENSG00000143632.
GeneIDi58.
KEGGihsa:58.
UCSCiuc001htm.4. human.

Organism-specific databases

CTDi58.
GeneCardsiACTA1.
GeneReviewsiACTA1.
HGNCiHGNC:129. ACTA1.
HPAiCAB000045.
HPA041264.
HPA041271.
MalaCardsiACTA1.
MIMi102610. gene.
161800. phenotype.
255310. phenotype.
616852. phenotype.
neXtProtiNX_P68133.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0676. Eukaryota.
COG5277. LUCA.
GeneTreeiENSGT00760000118957.
HOGENOMiHOG000233340.
HOVERGENiHBG003771.
InParanoidiP68133.
KOiK10354.
OMAiIXMESAG.
OrthoDBiEOG091G08LD.
PhylomeDBiP68133.
TreeFamiTF354237.

Enzyme and pathway databases

ReactomeiR-HSA-390522. Striated Muscle Contraction.
SignaLinkiP68133.

Miscellaneous databases

ChiTaRSiACTA1. human.
EvolutionaryTraceiP68133.
GeneWikiiActin,_alpha_1.
GenomeRNAii58.
PROiP68133.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143632.
CleanExiHS_ACTA1.
ExpressionAtlasiP68133. baseline and differential.
GenevisibleiP68133. 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...

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: September 7, 2016
This is version 139 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

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 one 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.