HGNC Approved Gene Symbol: LRRC37A3
Cytogenetic location: 17q24.1 Genomic coordinates (GRCh38): 17:64,854,130-64,919,478 (from NCBI)
LRRC37A3 belongs to the LRRC37 gene family, which arose by gene duplication (see 616555). LRRC37 proteins have leucine-rich repeat (LRR) motifs predicted to mediate protein-ligand interactions (Giannuzzi et al., 2013).
By database analysis, Giannuzzi et al. (2013) identified LRRC37A3. The full-length protein was predicted to have an N-terminal signal sequence, followed by 6 tandem extracellular LRR motifs flanked by LRR N- and C-terminal domains, a transmembrane segment, and a short intracellular C-terminal tail. RT-PCR using primers based on the conserved region of LRRC37 genes encoding the LRR motifs showed predominant expression of LRRC37 genes in testis, with moderate expression in thymus, cerebellum, and fetal brain, and lower expression in all other human tissues examined. Extensive alternative splicing of LRRC37 genes was detected, with full-length LRRC37 being the predominant form. RT-PCR of HeLa cells, lymphoblastoid cells, cerebellum, and testis revealed LRRC37A3 splice variants predicted to encode isoforms with 0 to 6 LRR motifs. Exclusion of exon 8 in some variants results in removal of the LRR C-terminal capping domain and a shift in the ORF, introducing a stop codon in exon 9 that removes the transmembrane domain.
Giannuzzi et al. (2013) determined that the LRRC37A3 gene has at least 14 exons.
Using FISH and genomic sequence analysis, Giannuzzi et al. (2013) mapped the LRRC37A3 gene to chromosome 17q24.1.
Giannuzzi, G., Siswara, P., Malig, M., Marques-Bonet, T., NISC Comparative Sequencing Program, Ventura, M., Eichler, E. E. Evolutionary dynamism of the primate LRRC37 gene family. Genome Res. 23: 46-59, 2013. [PubMed: 23064749] [Full Text: https://doi.org/10.1101/gr.138842.112]