ACTC1

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Actin, alpha, cardiac muscle 1
Protein ACTC1 PDB 1atn.png
PDB rendering based on 1atn.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ACTC1 ; ACTC; ASD5; CMD1R; CMH11; LVNC4
External IDs OMIM102540 MGI87905 HomoloGene68446 GeneCards: ACTC1 Gene
RNA expression pattern
PBB GE ACTC1 205132 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 70 11464
Ensembl ENSG00000159251 ENSMUSG00000068614
UniProt P68032 P68033
RefSeq (mRNA) NM_005159 NM_009608
RefSeq (protein) NP_005150 NP_033738
Location (UCSC) Chr 15:
35.08 – 35.09 Mb
Chr 2:
114.05 – 114.05 Mb
PubMed search [1] [2]

Actin, alpha cardiac muscle 1 is a protein that in humans is encoded by the ACTC1 gene.[1][2]

Function[edit]

Actins are highly conserved proteins that are involved in various types of cell motility. 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 four others. The protein encoded by this gene belongs to the actin family which is composed of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC).[2]

It has been suggested that the ACTC1 gene has a role during development. Experiments in chick embryos found an association between ACTC1 knockdown and a reduction in the artrial septa.[3]

Role in disease[edit]

Polymorphisms in ACTC1 have been linked to Dilated Cardiomyopathy in a small number of Japanese patients.[4] Further studies in patients from South Africa found no association.[5] The E101K missense mutation has been associated with Hypertrophic Cardiomyopathy[6][7][8][9] and Left Ventricular Noncompaction.[10] Another mutation has in the ACTC1 gene has been associated with atrial septal defects.[3]

References[edit]

  1. ^ Kramer PL, Luty JA, Litt M (Aug 1992). "Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q". Genomics 13 (3): 904–5. doi:10.1016/0888-7543(92)90185-U. PMID 1639426. 
  2. ^ a b "Entrez Gene: ACTC1 actin, alpha, cardiac muscle 1". 
  3. ^ a b Matsson H, et al (Jan 2008). "Alpha-cardiac actin mutations produce atrial septal defects.". Hum Mol Genet. 17 (2): 256–65. doi:10.1093/hmg/ddm302. PMID 17947298. 
  4. ^ Takai E, et al (Oct 1999). "Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.". Am J Med Genet. 86 (4): 325–7. doi:10.1002/(SICI)1096-8628. 
  5. ^ Mayosi BM, et al (Oct 1999). "Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy.". J Med Genet. 36 (10): 796–7. doi:10.1136/jmg.36.10.796. 
  6. ^ Olson TM, et al (Sep 2000). "Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.". J Mol Cell Cardiol. 32 (9): 1687–94. doi:10.1006/jmcc.2000.1204. PMID 10966831. 
  7. ^ Arad M, et al (Nov 2005). "Gene mutations in apical hypertrophic cardiomyopathy.". Circulation. 112 (18): 2805–11. doi:10.1161/CIRCULATIONAHA.105.547448. 
  8. ^ Monserrat L, et al (Aug 2007). "Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.". Eur Heart J. 28 (16): 1953–61. doi:10.1093/eurheartj/ehm239. 
  9. ^ Morita H, et al (May 2008). "Shared genetic causes of cardiac hypertrophy in children and adults.". N Engl J Med. 358 (18): 1899–908. doi:10.1056/NEJMoa075463. 
  10. ^ Klaassen S, et al (June 2008). "Mutations in sarcomere protein genes in left ventricular noncompaction.". Circulation. 117 (22): 2893–901. doi:10.1161/CIRCULATIONAHA.107.746164. PMID 1850600. 

Further reading[edit]

External links[edit]