ACTG1

(Actin, gamma1)

 

  • Alias                                 (According to NCBI)

 

  • ACTG

  • DFNA20 

  • DFNA26 

  • HGNC:2793 

  • HGNC:2797

  • Weakly similar to F36D4.2 gene product [C.elegans]

  • actin, cytoplasmic 2

  • actin, gamma 1

  • cytoskeletal gamma-actin

  • deafness, autosomal dominant 20

  • deafness, autosomal dominant 20; deafness, autosomal dominant 26

  • Actin, cytoplasmic 2 (Gamma-actin)

 

 

  • Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three 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 co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in nonmuscle cells.
     

 

  • Location: 17q25
  • Orientation: minus strand
  • Size: 2,828 bp
  • 6 exons
  • DNA sequence (Human):  NC_000017.

  •    CGH (17q25):  Losses (%) -1.7   Gain (%)  11.2
  • Mutations and SNPs (According to HGMD and SNP)

 
  • HGMD (Human Gene Mutation Database):ACTG1
  • SNP: ACTG1

  

  • m-RNA                       (According to NCBI and CGAP)

 

  •  mRNA sequence (Human): NM_001614.

  •  Size: 1919  bp

  •  cDNA libraries:ACTG1
  • Size: 375 amino acids; 41793 Da
  • Catalytic activity :
  • Subcellular location: Cytoplasmic.
  • Protein domains

 

        

 

                            

  • Pathways and interactions (According to BioCarta, DIP)
  • Pathway:

                  HIV-I Nef: negative effector of Fas and TNF

  • Protein interactions:

     

  • Clinical                            (According to OMIM, PubMed)