Alternative titles; symbols
HGNC Approved Gene Symbol: FAM9A
Cytogenetic location: Xp22.31 Genomic coordinates (GRCh38) : X:8,790,795-8,801,383 (from NCBI)
FAM9A is expressed specifically in testis (Martinez-Garay et al., 2002).
By characterizing a region of chromosome Xp22 involved in a translocation with chromosome 10, followed by EST database analysis and 5-prime RACE of a testis cDNA library, Martinez-Garay et al. (2002) cloned full-length FAM9A. The deduced 332-amino acid protein contains a stretch of multiple alanine and glutamic acids, 3 predicted bipartite nuclear localization signals, and 2 classical nuclear localization signals. FAM9A shares 46 to 59% amino acid identity with FAM9B (300478) and FAM9C (300479), which also map to the same chromosomal region, and about 30% identity with rodent Sycp3 (604759). Northern blot analysis of several tissues detected expression of a 1.55-kb transcript only in testis. Fluorescence-tagged FAM9A localized to the nucleolus of transfected COS-7 cells.
Martinez-Garay et al. (2002) determined that the FAM9A gene contains 10 exons and spans about 10 kb. Exons 2 and 3 share 99% identity over the first 111 bp, suggesting that they were derived by duplication, and both contain a putative ATG start codon.
By genomic sequence analysis, Martinez-Garay et al. (2002) mapped the FAM9A gene to chromosome Xp22.33-p22.32, near the FAM9B and FAM9C genes and several pseudogenes. They also mapped related genes or pseudogenes to chromosomes Xq28, Yp11.31, 1p36.13, and 8p11.1.
Martinez-Garay, I., Jablonka, S., Sutajova, M., Steuernagel, P., Gal, A., Kutsche, K. A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region. Genomics 80: 259-267, 2002. [PubMed: 12213195] [Full Text: https://doi.org/10.1006/geno.2002.6834]