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Actin, alpha skeletal muscle

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Protein-coding gene in the species Homo sapiens
ACTA1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1T44

Identifiers
AliasesACTA1, ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, Actin, alpha 1, SHPM, actin, alpha 1, skeletal muscle, actin alpha 1, skeletal muscle
External IDsOMIM: 102610; MGI: 87902; HomoloGene: 121702; GeneCards: ACTA1; OMA:ACTA1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)
Chromosome 1 (human)Genomic location for ACTA1Genomic location for ACTA1
Band1q42.13Start229,430,365 bp
End229,434,104 bp
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)
Chromosome 8 (mouse)Genomic location for ACTA1Genomic location for ACTA1
Band8 E2|8 72.26 cMStart124,618,508 bp
End124,621,490 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Skeletal muscle tissue of biceps brachii

  • glutes

  • triceps brachii muscle

  • Skeletal muscle tissue of rectus abdominis

  • thoracic diaphragm

  • tibialis anterior muscle

  • muscle of thigh

  • gastrocnemius muscle

  • body of tongue

  • deltoid muscle
Top expressed in
  • ankle

  • soleus muscle

  • plantaris muscle

  • medial head of gastrocnemius muscle

  • intercostal muscle

  • muscle of thigh

  • body of femur

  • digastric muscle

  • temporal muscle

  • vastus lateralis muscle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

58

11459

Ensembl

ENSG00000143632

ENSMUSG00000031972

UniProt

P68133

P68134

RefSeq (mRNA)

NM_001100

NM_001272041
NM_009606

RefSeq (protein)

NP_001091

NP_001258970
NP_033736

Location (UCSC)Chr 1: 229.43 – 229.43 MbChr 8: 124.62 – 124.62 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Actin, alpha skeletal muscle is a protein that in humans is encoded by the ACTA1 gene.

Actin alpha 1 which is expressed in skeletal muscle is one of six different actin isoforms which have been identified. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus.

Skeletal actin gene expression

Skeletal alpha actin expression is induced by stimuli and conditions known to cause muscle formation. Such conditions result in fusion of committed cells (satellite cells) into myotubes, to form muscle fibers. Skeletal actin itself, when expressed, causes expression of several other "myogenic genes", which are essential to muscle formation. One key transcription factor that activates skeletal actin gene expression is Serum Response Factor ("SRF"), a protein that binds to specific sites on the promoter DNA of the actin gene. SRF may bring a number of other proteins to the promoter of skeletal actin, such as androgen receptor, and thereby contribute to induction of skeletal actin gene expression by androgenic (often termed "anabolic") steroids.

Interactions

Actin, alpha 1 has been shown to interact with TMSB4X, MIB2 and PRKCE.

Clinical significance

Mutations in the ACTA1 gene are known to cause the following conditions:

  • Nemaline myopathy 3 (NEM3);
  • Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM);
  • Myopathy, congenital, with fiber-type disproportion (CFTD);
  • Myopathy, scapulohumeroperoneal (SHPM).

See also

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000143632Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031972Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Mogensen J, Kruse TA, Børglum AD (March 1999). "Assignment of the human skeletal muscle a-actin gene (ACTA1) to chromosome 1q42.13→q42.2 by radiation hybrid mapping". Cytogenetics and Cell Genetics. 83 (3–4): 224–5. doi:10.1159/000015184. PMID 10072583. S2CID 84202330.
  6. Gunning P, Ponte P, Okayama H, Engel J, Blau H, Kedes L (May 1983). "Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed". Molecular and Cellular Biology. 3 (5): 787–95. doi:10.1128/mcb.3.5.787. PMC 368601. PMID 6865942.
  7. "Entrez Gene: ACTA1 actin, alpha 1, skeletal muscle".
  8. Bandman E (December 1992). "Contractile protein isoforms in muscle development". Developmental Biology. 154 (2): 273–83. doi:10.1016/0012-1606(92)90067-Q. PMID 1358730.
  9. Gunning PW, Ferguson V, Brennan KJ, Hardeman EC (February 2001). "Alpha-skeletal actin induces a subset of muscle genes independently of muscle differentiation and withdrawal from the cell cycle". Journal of Cell Science. 114 (Pt 3): 513–24. doi:10.1242/jcs.114.3.513. PMID 11171321.
  10. Belaguli NS, Zhou W, Trinh TH, Majesky MW, Schwartz RJ (July 1999). "Dominant negative murine serum response factor: alternative splicing within the activation domain inhibits transactivation of serum response factor binding targets". Molecular and Cellular Biology. 19 (7): 4582–91. doi:10.1128/mcb.19.7.4582. PMC 84256. PMID 10373507.
  11. Vlahopoulos S, Zimmer WE, Jenster G, Belaguli NS, Balk SP, Brinkmann AO, Lanz RB, Zoumpourlis VC, Schwartz RJ (March 2005). "Recruitment of the androgen receptor via serum response factor facilitates expression of a myogenic gene". The Journal of Biological Chemistry. 280 (9): 7786–92. doi:10.1074/jbc.M413992200. PMID 15623502.
  12. Ballweber E, Hannappel E, Huff T, Stephan H, Haener M, Taschner N, Stoffler D, Aebi U, Mannherz HG (January 2002). "Polymerisation of chemically cross-linked actin:thymosin beta(4) complex to filamentous actin: alteration in helical parameters and visualisation of thymosin beta(4) binding on F-actin". Journal of Molecular Biology. 315 (4): 613–25. doi:10.1006/jmbi.2001.5281. PMID 11812134.
  13. Safer D, Sosnick TR, Elzinga M (May 1997). "Thymosin beta 4 binds actin in an extended conformation and contacts both the barbed and pointed ends". Biochemistry. 36 (19): 5806–16. doi:10.1021/bi970185v. PMID 9153421.
  14. Takeuchi T, Heng HH, Ye CJ, Liang SB, Iwata J, Sonobe H, Ohtsuki Y (October 2003). "Down-regulation of a novel actin-binding molecule, skeletrophin, in malignant melanoma". The American Journal of Pathology. 163 (4): 1395–404. doi:10.1016/S0002-9440(10)63497-9. PMC 1868282. PMID 14507647.
  15. England K, Ashford D, Kidd D, Rumsby M (June 2002). "PKC epsilon is associated with myosin IIA and actin in fibroblasts". Cellular Signalling. 14 (6): 529–36. doi:10.1016/S0898-6568(01)00277-7. PMID 11897493.
  16. "UniProt". www.uniprot.org. Retrieved 2023-09-09.

Further reading

External links

PDB gallery
  • 1atn: Atomic structure of the actin:DNASE I complex 1atn: Atomic structure of the actin:DNASE I complex
  • 1c0g: CRYSTAL STRUCTURE OF 1:1 COMPLEX BETWEEN GELSOLIN SEGMENT 1 AND A DICTYOSTELIUM/TETRAHYMENA CHIMERA ACTIN (MUTANT 228: Q228K/T229A/A230Y/E360H) 1c0g: CRYSTAL STRUCTURE OF 1:1 COMPLEX BETWEEN GELSOLIN SEGMENT 1 AND A DICTYOSTELIUM/TETRAHYMENA CHIMERA ACTIN (MUTANT 228: Q228K/T229A/A230Y/E360H)
  • 1d4x: Crystal Structure of Caenorhabditis Elegans Mg-ATP Actin Complexed with Human Gelsolin Segment 1 at 1.75 A resolution. 1d4x: Crystal Structure of Caenorhabditis Elegans Mg-ATP Actin Complexed with Human Gelsolin Segment 1 at 1.75 A resolution.
  • 1eqy: COMPLEX BETWEEN RABBIT MUSCLE ALPHA-ACTIN: HUMAN GELSOLIN DOMAIN 1 1eqy: COMPLEX BETWEEN RABBIT MUSCLE ALPHA-ACTIN: HUMAN GELSOLIN DOMAIN 1
  • 1esv: COMPLEX BETWEEN LATRUNCULIN A:RABBIT MUSCLE ALPHA ACTIN:HUMAN GELSOLIN DOMAIN 1 1esv: COMPLEX BETWEEN LATRUNCULIN A:RABBIT MUSCLE ALPHA ACTIN:HUMAN GELSOLIN DOMAIN 1
  • 1h1v: GELSOLIN G4-G6/ACTIN COMPLEX 1h1v: GELSOLIN G4-G6/ACTIN COMPLEX
  • 1hlu: STRUCTURE OF BOVINE BETA-ACTIN-PROFILIN COMPLEX WITH ACTIN BOUND ATP PHOSPHATES SOLVENT ACCESSIBLE 1hlu: STRUCTURE OF BOVINE BETA-ACTIN-PROFILIN COMPLEX WITH ACTIN BOUND ATP PHOSPHATES SOLVENT ACCESSIBLE
  • 1ijj: THE X-RAY CRYSTAL STRUCTURE OF THE COMPLEX BETWEEN RABBIT SKELETAL MUSCLE ACTIN AND LATRUNCULIN A AT 2.85 A RESOLUTION 1ijj: THE X-RAY CRYSTAL STRUCTURE OF THE COMPLEX BETWEEN RABBIT SKELETAL MUSCLE ACTIN AND LATRUNCULIN A AT 2.85 A RESOLUTION
  • 1j6z: UNCOMPLEXED ACTIN 1j6z: UNCOMPLEXED ACTIN
  • 1kxp: CRYSTAL STRUCTURE OF HUMAN VITAMIN D-BINDING PROTEIN IN COMPLEX WITH SKELETAL ACTIN 1kxp: CRYSTAL STRUCTURE OF HUMAN VITAMIN D-BINDING PROTEIN IN COMPLEX WITH SKELETAL ACTIN
  • 1lcu: Polylysine Induces an Antiparallel Actin Dimer that Nucleates Filament Assembly: Crystal Structure at 3.5 A Resolution 1lcu: Polylysine Induces an Antiparallel Actin Dimer that Nucleates Filament Assembly: Crystal Structure at 3.5 A Resolution
  • 1lot: CRYSTAL STRUCTURE OF THE COMPLEX OF ACTIN WITH VITAMIN D-BINDING PROTEIN 1lot: CRYSTAL STRUCTURE OF THE COMPLEX OF ACTIN WITH VITAMIN D-BINDING PROTEIN
  • 1m8q: Molecular Models of Averaged Rigor Crossbridges from Tomograms of Insect Flight Muscle 1m8q: Molecular Models of Averaged Rigor Crossbridges from Tomograms of Insect Flight Muscle
  • 1ma9: Crystal structure of the complex of human vitamin D binding protein and rabbit muscle actin 1ma9: Crystal structure of the complex of human vitamin D binding protein and rabbit muscle actin
  • 1mdu: Crystal structure of the chicken actin trimer complexed with human gelsolin segment 1 (GS-1) 1mdu: Crystal structure of the chicken actin trimer complexed with human gelsolin segment 1 (GS-1)
  • 1mvw: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1mvw: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1nlv: Crystal Structure Of Dictyostelium Discoideum Actin Complexed With Ca ATP And Human Gelsolin Segment 1 1nlv: Crystal Structure Of Dictyostelium Discoideum Actin Complexed With Ca ATP And Human Gelsolin Segment 1
  • 1nm1: Crystal Structure of D. Dicsoideum Actin Complexed With Gelsolin Segment 1 and Mg ATP at 1.8 A Resolution 1nm1: Crystal Structure of D. Dicsoideum Actin Complexed With Gelsolin Segment 1 and Mg ATP at 1.8 A Resolution
  • 1nmd: Crystal Structure of D. Discoideum Actin-Gelsolin Segment 1 Complex Crystallized In Presence Of Lithium ATP 1nmd: Crystal Structure of D. Discoideum Actin-Gelsolin Segment 1 Complex Crystallized In Presence Of Lithium ATP
  • 1nwk: CRYSTAL STRUCTURE OF MONOMERIC ACTIN IN THE ATP STATE 1nwk: CRYSTAL STRUCTURE OF MONOMERIC ACTIN IN THE ATP STATE
  • 1o18: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o18: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1o19: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o19: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1o1a: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1a: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1o1b: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1b: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1o1c: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1c: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1o1d: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1d: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1o1e: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1e: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1o1f: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1f: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1o1g: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE 1o1g: MOLECULAR MODELS OF AVERAGED RIGOR CROSSBRIDGES FROM TOMOGRAMS OF INSECT FLIGHT MUSCLE
  • 1p8z: Complex Between Rabbit Muscle alpha-Actin: Human Gelsolin Residues Val26-Glu156 1p8z: Complex Between Rabbit Muscle alpha-Actin: Human Gelsolin Residues Val26-Glu156
  • 1qz5: Structure of rabbit actin in complex with kabiramide C 1qz5: Structure of rabbit actin in complex with kabiramide C
  • 1qz6: Structure of rabbit actin in complex with jaspisamide A 1qz6: Structure of rabbit actin in complex with jaspisamide A
  • 1rdw: Actin Crystal Dynamics: Structural Implications for F-actin Nucleation, Polymerization and Branching Mediated by the Anti-parallel Dimer 1rdw: Actin Crystal Dynamics: Structural Implications for F-actin Nucleation, Polymerization and Branching Mediated by the Anti-parallel Dimer
  • 1rfq: Actin Crystal Dynamics: Structural Implications for F-actin Nucleation, Polymerization and Branching Mediated by the Anti-parallel Dimer 1rfq: Actin Crystal Dynamics: Structural Implications for F-actin Nucleation, Polymerization and Branching Mediated by the Anti-parallel Dimer
  • 1rgi: Crystal structure of gelsolin domains G1-G3 bound to actin 1rgi: Crystal structure of gelsolin domains G1-G3 bound to actin
  • 1s22: Absolute Stereochemistry of Ulapualide A 1s22: Absolute Stereochemistry of Ulapualide A
  • 1sqk: CRYSTAL STRUCTURE OF CIBOULOT IN COMPLEX WITH SKELETAL ACTIN 1sqk: CRYSTAL STRUCTURE OF CIBOULOT IN COMPLEX WITH SKELETAL ACTIN
  • 1t44: Structural basis of actin sequestration by thymosin-B4: Implications for arp2/3 activation 1t44: Structural basis of actin sequestration by thymosin-B4: Implications for arp2/3 activation
  • 1wua: The structure of Aplyronine A-actin complex 1wua: The structure of Aplyronine A-actin complex
  • 1y64: Bni1p Formin Homology 2 Domain complexed with ATP-actin 1y64: Bni1p Formin Homology 2 Domain complexed with ATP-actin
  • 1yxq: Crystal structure of actin in complex with swinholide A 1yxq: Crystal structure of actin in complex with swinholide A
  • 2a3z: Ternary complex of the WH2 domain of WASP with Actin-DNAse I 2a3z: Ternary complex of the WH2 domain of WASP with Actin-DNAse I
  • 2a40: Ternary complex of the WH2 domain of WAVE with Actin-DNAse I 2a40: Ternary complex of the WH2 domain of WAVE with Actin-DNAse I
  • 2a41: Ternary complex of the WH2 Domain of WIP with Actin-DNAse I 2a41: Ternary complex of the WH2 Domain of WIP with Actin-DNAse I
  • 2a42: Actin-DNAse I Complex 2a42: Actin-DNAse I Complex
  • 2a5x: Crystal Structure of a Cross-linked Actin Dimer 2a5x: Crystal Structure of a Cross-linked Actin Dimer
  • 2asm: Structure of Rabbit Actin In Complex With Reidispongiolide A 2asm: Structure of Rabbit Actin In Complex With Reidispongiolide A
  • 2aso: Structure of Rabbit Actin In Complex With Sphinxolide B 2aso: Structure of Rabbit Actin In Complex With Sphinxolide B
  • 2asp: Structure of Rabbit Actin In Complex With Reidispongiolide C 2asp: Structure of Rabbit Actin In Complex With Reidispongiolide C
  • 2btf: THE STRUCTURE OF CRYSTALLINE PROFILIN-BETA-ACTIN 2btf: THE STRUCTURE OF CRYSTALLINE PROFILIN-BETA-ACTIN
  • 2d1k: Ternary complex of the WH2 domain of mim with actin-dnase I 2d1k: Ternary complex of the WH2 domain of mim with actin-dnase I
  • 2ff3: Crystal structure of Gelsolin domain 1:N-wasp V2 motif hybrid in complex with actin 2ff3: Crystal structure of Gelsolin domain 1:N-wasp V2 motif hybrid in complex with actin
  • 2ff6: Crystal structure of Gelsolin domain 1:ciboulot domain 2 hybrid in complex with actin 2ff6: Crystal structure of Gelsolin domain 1:ciboulot domain 2 hybrid in complex with actin
  • 2fxu: X-ray Structure of Bistramide A- Actin Complex at 1.35 A resolution. 2fxu: X-ray Structure of Bistramide A- Actin Complex at 1.35 A resolution.
  • 2gwj: SpvB ADP-ribosylated actin: hexagonal crystal form 2gwj: SpvB ADP-ribosylated actin: hexagonal crystal form
  • 2gwk: SpvB ADP-ribosylated actin: orthorhombic crystal form 2gwk: SpvB ADP-ribosylated actin: orthorhombic crystal form
  • 2hf3: Crystal structure of monomeric Actin in the ADP bound state 2hf3: Crystal structure of monomeric Actin in the ADP bound state
  • 2hf4: Crystal structure of Monomeric Actin in its ATP-bound state 2hf4: Crystal structure of Monomeric Actin in its ATP-bound state
  • 2hmp: Uncomplexed actin cleaved with protease ECP32 2hmp: Uncomplexed actin cleaved with protease ECP32
  • 2oan: Structure of oxidized beta-actin 2oan: Structure of oxidized beta-actin
  • 2q1n: Actin Dimer Cross-linked Between Residues 41 and 374 2q1n: Actin Dimer Cross-linked Between Residues 41 and 374
  • 2q31: Actin Dimer Cross-linked Between Residues 41 and 374 and proteolytically cleaved by subtilisin between residues 47 and 48. 2q31: Actin Dimer Cross-linked Between Residues 41 and 374 and proteolytically cleaved by subtilisin between residues 47 and 48.
  • 2q36: Actin Dimer Cross-linked between Residues 191 and 374 and complexed with Kabiramide C 2q36: Actin Dimer Cross-linked between Residues 191 and 374 and complexed with Kabiramide C
Proteins of the cytoskeleton
Human
Microfilaments
and ABPs
Myofilament
Actins
Myosins
Other
Other
Intermediate
filaments
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
Microtubules
and MAPs
Tubulins
MAPs
Kinesins
Dyneins
Microtubule organising proteins
Microtubule severing proteins
Other
Catenins
Membrane
Other
Nonhuman
See also: cytoskeletal defects
Category: