KIAA1191 is a 305 amino acid protein that belongs to the UPF0498 family and exists as three alternatively spliced isoforms. The gene that encodes KIAA1191 consists of approximately 15,908 bases and maps to human chromosome 5q35.2. With 181 million base pairs, Chromosome 5 comprises nearly 6% of the human genome. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5-associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.