Alternative titles; symbols
HGNC Approved Gene Symbol: AKAP17A
Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:1,591,604-1,602,520 (from NCBI)
AKAP17A is a pseudoautosomal gene that encodes an alternative splicing regulator (Mangs et al., 2006).
In the 2.6-megabase segment of the distal short arms of the X and Y chromosomes, called the pseudoautosomal region, Ellison et al. (1992) identified an expressed gene designated XE7 that escapes X inactivation.
Ellison et al. (1992) reported the structure of the XE7 gene and its expression in various human tissues. The analysis of genomic and cDNA clones showed that alternative RNA splicing results in the production of 2 protein isoforms, one containing 385 amino acids and the other containing 695 residues. The smaller polypeptide is a truncated version of the larger and results from the inclusion of a cassette exon that has an in-frame stop codon. The XE7 gene appears to be ubiquitously expressed, and the production of both protein isoforms was predicted in each of the several tissues examined.
Ellison et al. (1992) identified the AKAP17A gene within the Xp-Yp pseudoautosomal region.
Gross (2014) mapped identical copies of the AKAP17A gene to chromosomes Xp22.33 and Yp11.32 based on an alignment of the AKAP17A sequence (GenBank BC028151) with the genomic sequence (GRCh37).
Using human ZRANB2 (604347) as bait in a yeast 2-hybrid screen, Mangs et al. (2006) identified human XE7 as an interacting protein. They demonstrated that XE7 interacted with both ZRANB2 and ASF (SRSF1; 600812) via its RS-rich region. Confocal microscopy demonstrated colocalization of XE7, ZRANB2, and ASF in nuclei of human cells. In vivo splicing assays showed that XE7 acted as an alternative splicing regulator that influenced splice-site selection in pre-mRNAs from CD44 107269, TRA2-beta-1 (TRA2B; 602719), and SRp20 (SRSF3; 603364) minigenes. Mangs et al. (2006) concluded that the spliceosome component XE7 resembles an SR-related splicing protein and can influence alternative splicing.
Ellison, J., Passage, M., Yu, L.-C., Yen, P., Mohandas, T. K., Shapiro, L. Directed isolation of human genes that escape X inactivation. Somat. Cell Molec. Genet. 18: 259-268, 1992. [PubMed: 1496421] [Full Text: https://doi.org/10.1007/BF01233862]
Ellison, J. W., Ramos, C., Yen, P. H., Shapiro, L. J. Structure and expression of the human pseudoautosomal gene XE7. Hum. Molec. Genet. 1: 691-696, 1992. [PubMed: 1302606]
Gross, M. B. Personal Communication. Baltimore, Md. 5/21/2014.
Mangs, A. H., Speirs, H. J. L., Goy, C., Adams, D. J., Markus, M. A., Morris, B. J. XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265. Nucleic Acids Res. 34: 49776-4986, 2006.