ACTL7A

From Wikipedia, the free encyclopedia


Actin-like 7A
Identifiers
Symbol(s) ACTL7A;
External IDs OMIM: 604303 MGI: 1343051 HomoloGene: 7613
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 10881 11470
Ensembl ENSG00000187003 ENSMUSG00000070979
Uniprot Q9Y615 Q9QY84
Refseq NM_006687 (mRNA)
NP_006678 (protein)		 NM_009611 (mRNA)
NP_033741 (protein)
Location Chr 9: 110.66 - 110.67 Mb Chr 4: 56.84 - 56.84 Mb
Pubmed search [1] [2]

Actin-like 7A, also known as ACTL7A, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: ACTL7A actin-like 7A.

[edit] Further reading

  • Schafer DA, Schroer TA (2000). "Actin-related proteins.". Annu. Rev. Cell Dev. Biol. 15: 341-63. doi:10.1146/annurev.cellbio.15.1.341. PMID 10611965. 
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173-8. doi:10.1038/nature04209. PMID 16189514. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9.". Nature 429 (6990): 369-74. doi:10.1038/nature02465. PMID 15164053. 
  • Garvalov BK, Higgins TE, Sutherland JD, et al. (2003). "The conformational state of Tes regulates its zyxin-dependent recruitment to focal adhesions.". J. Cell Biol. 161 (1): 33-9. doi:10.1083/jcb.200211015. PMID 12695497. 
  • Coutts AS, MacKenzie E, Griffith E, Black DM (2003). "TES is a novel focal adhesion protein with a role in cell spreading.". J. Cell. Sci. 116 (Pt 5): 897-906. PMID 12571287. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Chadwick BP, Mull J, Helbling LA, et al. (1999). "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. doi:10.1006/geno.1999.5848. PMID 10373328. 
 This article on a gene on chromosome 9 is a stub. You can help Wikipedia by expanding it.