- rab-33 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable GTP binding activity and GTPase activity. Predicted to be located in Golgi apparatus and endosome. Human ortholog(s) of this gene implicated in Smith-McCort dysplasia 2. Is an ortholog of human RAB33B (RAB33B, member RAS oncogene family).
- BLM10 [Search on AGR]
Saccharomyces cerevisiae Proteasome activator; binds the core proteasome (CP) and stimulates proteasome-mediated protein degradation by inducing gate opening; required for sequestering CP into proteasome storage granule (PSG) during quiescent phase and for nuclear import of CP in proliferating cells; required for resistance to bleomycin, may be involved in protecting against oxidative damage; similar to mammalian PA200
- MTOR-AS1 [Search on AGR]
Homo sapiens ASSOCIATED WITH genetic disease; Smith-Kingsmore Syndrome; INTERACTS WITH 2-hydroxypropanoic acid; rac-lactic acid
- dhcr-7 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable 7-dehydrocholesterol reductase activity and sterol delta7 reductase activity. Predicted to be involved in brassinosteroid biosynthetic process and cholesterol biosynthetic process. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in several diseases, including Greenberg dysplasia; Pelger-Huet anomaly; and Smith-Lemli-Opitz syndrome. Is an ortholog of human DHCR7 (7-dehydrocholesterol reductase).
- RSPH10B2 [Search on AGR]
Homo sapiens This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes. [provided by RefSeq, Jul 2017]
- Slc47a1 [Search on AGR]
Homo sapiens This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]