HGNC Approved Gene Symbol: APOBEC3D
Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:39,021,127-39,033,277 (from NCBI)
APOBEC3D is 1 of several tandemly duplicated APOBEC1 (600130)-like genes on chromosome 22 that encode cytidine-to-uridine RNA-editing deaminases (Jarmuz et al., 2002).
Jarmuz et al. (2002) identified the APOBEC3D gene within the ABOBEC3 gene cluster on chromosome 22. The deduced 271-amino acid protein contains an N-terminal alpha helix, followed by a cytidine deaminase active site, a linker region, and a pseudoactive site. A region corresponding to intron 3 in other APOBEC3 genes is translated in APOBEC3D, producing an extended sequence between the linker region and the pseudoactive site. Northern blot analysis detected APOBEC3D expression in colorectal adenocarcinoma cells, chronic myelogenous leukemia cells, lung carcinoma, and HeLa cells. No expression was detected in normal tissues.
Jarmuz et al. (2002) determined that the APOBEC3D gene contains 3 exons. The promoter region contains no TATA or CATT box.
By FISH and genomic sequence analysis, Jarmuz et al. (2002) mapped the APOBEC3D gene within a tandem array of 7 APOBEC genes or pseudogenes on chromosome 22q12-q13.2. All are oriented with a centromeric 5-prime end. Jarmuz et al. (2002) noted that the APOBEC3 family is not present in rodents.
Jarmuz, A., Chester, A., Bayliss, J., Gisbourne, J., Dunham, I., Scott, J., Navaratnam, N. An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22. Genomics 79: 285-296, 2002. [PubMed: 11863358] [Full Text: https://doi.org/10.1006/geno.2002.6718]