HGNC Approved Gene Symbol: ACTL7B
Cytogenetic location: 9q31.3 Genomic coordinates (GRCh38) : 9:108,854,588-108,855,986 (from NCBI)
Actins (e.g., 102610) and actin-related proteins (ARPs) are members of a superfamily of proteins that have an actin fold, which is an ATP-binding cleft, as the common feature. ARPs are significantly longer than conventional actins, with the difference in length usually accounted for by peptide insertions within the more divergent protein regions surrounding the ATP-binding cleft Chadwick et al. (1999).
By searching a DNA sequence database with a human genomic sequence from the BAC 234B17, Chadwick et al. (1999) identified a gene encoding a protein with sequence similarity to a variety of actin proteins. Since this novel protein shared higher sequence similarity with ACTL7A (604303) than with any other known actin-like protein, the authors named it ACTL7B. The deduced 415-amino acid protein contains a single conserved protein kinase C site and a single conserved cAMP/cGMP-dependent phosphorylation site. As with other ARPs, ACTL7B is significantly longer than conventional actins. However, unlike other ARPs, the difference in size of ACTL7B is not due to insertions within the protein regions surrounding the ATP-binding cleft, but rather is caused by an extension of the N-terminal region. Human ACTL7B shares 88% amino acid identity with mouse Actl7b, which the authors also identified. Northern blot analysis of human adult tissues detected a 1.8-kb ACTL7B transcript that was strongly expressed in testis and weakly expressed in prostate.
Chadwick et al. (1999) determined that the ACTL7B gene is intronless. The authors found that the ACTL7A and ACTL7B genes are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia (DYS; 223900) candidate region in 9q31.
By genomic sequence analysis, Chadwick et al. (1999) determined that the ACTL7B gene is located on chromosome 9q31. By linkage analysis using an interspecific backcross, Chadwick et al. (1999) mapped the mouse Actl7b gene to chromosome 4, in a region showing homology of synteny with human 9q31.
Chadwick, B. P., Mull, J., Helbling, L. A., Gill, S., Leyne, M., Robbins, C. M., Pinkett, H. W., Makalowska, I., Maayan, C., Blumenfeld, A., Axelrod, F. B., Brownstein, M., Gusella, J. F., Slaugenhaupt, S. A. 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: 302-309, 1999. [PubMed: 10373328] [Full Text: https://doi.org/10.1006/geno.1999.5848]