Alternative titles; symbols
HGNC Approved Gene Symbol: RHBDL3
Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:32,265,832-32,324,661 (from NCBI)
RHBDL3 is a rhomboid intramembrane serine protease (Lemberg and Freeman, 2007).
Jaszai and Brand (2002) cloned mouse and human RHBDL3, which they termed VRHO. Both proteins contain 404 amino acids, have 7 transmembrane domains, and are related to rhomboid proteins (see RHBDL1, 603264), particularly in their C-terminal halves. In situ hybridization analysis with mouse embryos showed that Vrho was expressed in a spatially restricted manner in all stages investigated, with its expression pattern changing dynamically during development.
By comprehensive genomic analysis, Lemberg and Freeman (2007) classified RHBDL3 as a true active rhomboid belonging to the secretase-type rhomboid subfamily.
By genomic sequence analysis, Jaszai and Brand (2002) mapped the RHBDL3 gene to human chromosome 17.
Gross (2020) mapped the RHBDL3 gene to chromosome 17q11.2 based on an alignment of the RHBDL3 sequence (GenBank BC100975) with the genomic sequence (GRCh38).
Gross, M. B. Personal Communication. Baltimore, Md. 9/9/2020.
Jaszai, J., Brand, M. Cloning and expression of Ventrhoid, a novel vertebrate homologue of the Drosophila EGF pathway gene rhomboid. Mech. Dev. 113: 73-77, 2002. [PubMed: 11900977] [Full Text: https://doi.org/10.1016/s0925-4773(01)00655-4]
Lemberg, M. K., Freeman, M. Functional and evolutionary implications of enhanced genomic analysis of rhomboid intramembrane proteases. Genome Res. 17: 1634-1646, 2007. [PubMed: 17938163] [Full Text: https://doi.org/10.1101/gr.6425307]