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Gene Review:

AKAP17A - A kinase (PRKA) anchor protein 17A

Homo sapiens

Synonyms: 721P, A-kinase anchor protein 17A, AKAP-17A, B-lymphocyte antigen, CCDC133, ...

Voland, J.R. et al., Mangs, A.H. et al., Ried, K. et al., Ried, K. et al.

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Disease relevance of CXYorf3

Two gaps of less than 50 kb within the genomic locus of CSF2RA and around XE7 remain, which could not be covered with YACs, cosmids, or phages [1].

High impact information on CXYorf3

The 721P protein was found to have a leucine zipper-like structure, a possible basic region immediately upstream from the leucine zipper, and a protein kinase A phosphorylation site [2].
721P protein is encoded by a gene distinct from any deposited in existing data bases, and displays several features associated with proteins involved in signal transduction and gene regulation [2].
We have also detected the identity of one exon (1A) of ASMT to exon 3 in yet another pseudoautosomal gene, XE7 [3].
Herein we show for the first time that XE7 is an alternative splicing regulator [4].
We have thus shown that the spliceosomal component XE7 resembles an SR-related splicing protein, and can influence alternative splicing [4].

Anatomical context of CXYorf3

XE7 had been identified in a large-scale proteomic analysis of the human spliceosome [4].

References

Characterization of a YAC contig spanning the pseudoautosomal region. Ried, K., Mertz, A., Nagaraja, R., Trusgnich, M., Riley, J.H., Anand, R., Lehrach, H., Page, D., Ellison, J.W., Rappold, G. Genomics (1995) [Pubmed]
Cloning and sequencing of a trophoblast-endothelial-activated lymphocyte surface protein: cDNA sequence and genomic structure. Voland, J.R., Wyzykowski, R.J., Huang, M., Dutton, R.W. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. Ried, K., Rao, E., Schiebel, K., Rappold, G.A. Hum. Mol. Genet. (1998) [Pubmed]
XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265. Mangs, A.H., Speirs, H.J., Goy, C., Adams, D.J., Markus, M.A., Morris, B.J. Nucleic Acids Res. (2006) [Pubmed]

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LOC100850391	Bos taurus
AKAP17A	Canis lupus familiaris
LOC100856264	Canis lupus familiaris
akap17a	Danio rerio
AKAP17A	Gallus gallus
AKAP17A	Macaca mulatta
akap17a	Xenopus (Silurana) tropicalis

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