Alternative titles; symbols
HGNC Approved Gene Symbol: SLC25A6
Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:1,386,152-1,392,113 (from NCBI)
Schiebel et al. (1993) cloned a highly conserved pseudoautosomal gene by selecting a cDNA clone with a microdissected clone from chromosomal subregion Xp22.3. They found that it encodes ANT3, a member of the ADP/ATP translocase family that plays a fundamental role in cellular energy metabolism. The ANT3 gene had previously been characterized by Houldsworth and Attardi (1988) and by Cozens et al. (1989).
The gene encoding adenine nucleotide translocator-3 is located in the pseudoautosomal region (PAR) at the end of the short arm of the X and Y chromosomes. See also 403000.
Schiebel et al. (1993) determined that the ANT3 gene is located approximately 1,300 kb from the telomere of the X chromosome, proximal to the pseudoautosomal gene CSF2RA (306250), and escapes X inactivation. A homolog of ANT3, ANT2 (300150), maps to Xq13-q26 and is subject to X inactivation. The physical location of the ANT3 gene was determined by pulsed field mapping. From the location of a CpG island, they determined the orientation of the gene to be from centromere toward the telomere. It is probably directly adjacent to CSF2RA. All pseudogenes of the ANT gene family seem to lack introns. Schiebel et al. (1993) identified an intronless ANT3 pseudogene on chromosome 9.
Slim et al. (1993) identified the ANT3 gene in a clone microdissected from Xp22.3. It contained in its first intron a CpG island mapped 13,000 kb from the telomere. They showed that the gene is transcribed from the Y chromosome and from both the active and inactive X chromosomes.
Comparative in situ hybridization in various primate species revealed a pseudoautosomal location for the ANT3 gene and an X-specific location for the steroid sulfatase gene (STS; 300747) throughout the higher primate species up to the New World monkeys. However, Toder et al. (1995) found that ANT3 and STS map together on an autosome of 2 prosimian species of the genera Lemur and Eulemur. These results suggested an autosomal-to-X/Y translocation after the simians radiated from the prosimians, resulting in a pseudoautosomal location of genes such as ANT3 and STS. In simian primates, STS then became X-specific by a pericentric inversion in the Y chromosome followed by mutational inactivation of the Y allele.
Cozens, A. L., Runswick, M. J., Walker, J. E. DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase. J. Molec. Biol. 206: 261-280, 1989. [PubMed: 2541251] [Full Text: https://doi.org/10.1016/0022-2836(89)90477-4]
Houldsworth, J., Attardi, G. Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver. Proc. Nat. Acad. Sci. 85: 377-381, 1988. [PubMed: 2829183] [Full Text: https://doi.org/10.1073/pnas.85.2.377]
Schiebel, K., Weiss, B., Wohrle, D., Rappold, G. A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation. Nature Genet. 3: 82-87, 1993. [PubMed: 8490661] [Full Text: https://doi.org/10.1038/ng0193-82]
Slim, R., Levilliers, J., Ludecke, H.-J., Claussen, U., Nguyen, V. C., Gough, N. M., Horsthemke, B., Petit, C. A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation. Genomics 16: 26-33, 1993. [PubMed: 8486369] [Full Text: https://doi.org/10.1006/geno.1993.1135]
Toder, R., Rappold, G. A., Schiebel, K., Schempp, W. ANT3 and STS are autosomal in prosimian lemurs: implications for the evolution of the pseudoautosomal region. Hum. Genet. 95: 22-28, 1995. [PubMed: 7814020] [Full Text: https://doi.org/10.1007/BF00225068]