ACTL7A explained

Actin-like protein 7A is a protein that in humans is encoded by the ACTL7A gene.^{[1] [2]}

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known.^[2]

Further reading

• Schafer DA, Schroer TA . Actin-related proteins. . Annu. Rev. Cell Dev. Biol. . 15 . 341–63 . 2000 . 10611965 . 10.1146/annurev.cellbio.15.1.341 .
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network. . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 . etal.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Humphray SJ, Oliver K, Hunt AR . DNA sequence and analysis of human chromosome 9. . Nature . 429 . 6990 . 369–74 . 2004 . 15164053 . 10.1038/nature02465 . 2734081 . 2004Natur.429..369H . etal.
• Garvalov BK, Higgins TE, Sutherland JD . The conformational state of Tes regulates its zyxin-dependent recruitment to focal adhesions. . J. Cell Biol. . 161 . 1 . 33–9 . 2003 . 12695497 . 10.1083/jcb.200211015 . 2172870 . etal.
• Coutts AS, MacKenzie E, Griffith E, Black DM . TES is a novel focal adhesion protein with a role in cell spreading. . J. Cell Sci. . 116 . Pt 5 . 897–906 . 2003 . 12571287 . 10.1242/jcs.00278 . 26602119 .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . etal . 2002PNAS...9916899M. free .

Notes and References

1. Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA . Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31 . Genomics . 58 . 3 . 302–9 . Jul 1999 . 10373328 . 10.1006/geno.1999.5848 .
2. Web site: Entrez Gene: ACTL7A actin-like 7A.