Alternative titles; symbols
HGNC Approved Gene Symbol: FAM193B
Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:177,519,788-177,554,563 (from NCBI)
By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (2001) obtained a partial FAM193B clone, which they designated KIAA1931. RT-PCR ELISA detected high FAM193B expression in all adult and fetal tissues and specific adult brain regions examined.
By database analysis, Picchione et al. (2011) identified 3 splice variants of human FAM193B, which they called IRIZIO. The shorter variants, which skip exon 7 (delta-7) or exons 7 and 8 (delta-7/8), encode proteins with central nuclear localization and export signals and a C-terminal IRIZIO domain. The third variant includes all exons and encodes a protein that is C-terminally truncated due to an in-frame stop codon in exon 7. The truncated protein lacks the nuclear localization signals and IRIZIO domain. Semiquantitative RT-PCR detected only delta-7 and delta-7/8 transcripts in human tissues and cell lines. Immunohistochemical analysis revealed that both delta-7 and delta-7/8 proteins were expressed in the cytosol and that they partly colocalized with an endoplasmic reticulum marker.
Picchione et al. (2011) determined that the FAM193B gene contains 12 exons. Exons 1, 2, and 12 are untranslated, exons 7 and 11 contain stop codons, and exons 7 and 8 are subject to skipping.
Hartz (2014) mapped the FAM193B gene to chromosome 5q35.3 based on an alignment of the FAM193B sequence (GenBank AB067518) with the genomic sequence (GRCh37).
Hartz, P. A. Personal Communication. Baltimore, Md. 5/23/2014.
Nagase, T., Kikuno, R., Ohara, O. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. DNA Res. 8: 179-187, 2001. [PubMed: 11572484] [Full Text: https://doi.org/10.1093/dnares/8.4.179]
Picchione, F., Pritchard, C., Lagutina, I., Janke, L., Grosveld, G. C. IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS). Carcinogenesis 32: 452-461, 2011. [PubMed: 21177767] [Full Text: https://doi.org/10.1093/carcin/bgq273]