- C27F2.4 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable rRNA (guanine) methyltransferase activity. Predicted to be involved in rRNA (guanine-N7)-methylation. Predicted to be located in nucleolus. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor).
- drr-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable RNA binding activity. Part of eukaryotic 48S preinitiation complex. Expressed in several structures, including coelomocyte; excretory canal; neurons; ventral nerve cord; and vulva. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human EIF4H (eukaryotic translation initiation factor 4H).
- nsun-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in several processes, including negative regulation of cellular response to heat; negative regulation of locomotion involved in locomotory behavior; and positive regulation of reproductive process. Predicted to be located in nucleolus. Expressed widely. Used to study Williams-Beuren syndrome. Is an ortholog of human NOP2 (NOP2 nucleolar protein).
- W09G3.7 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable guanyl-nucleotide exchange factor activity and rRNA binding activity. Predicted to be involved in positive regulation of mitochondrial translation. Predicted to be located in mitochondrial inner membrane. Expressed in amphid neurons; hypodermis; and intestine. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human RCC1L (RCC1 like).
- SPDYE1 [Search on AGR]
Homo sapiens This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]
- nsun-5 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in several processes, including negative regulation of cellular response to heat; negative regulation of locomotion involved in locomotory behavior; and positive regulation of rRNA processing. Predicted to be located in nucleolus. Used to study Williams-Beuren syndrome. Is an ortholog of human NSUN5 (NOP2/Sun RNA methyltransferase 5).
- SC [Search on AGR]
Drosophila melanogaster scute (sc) is a proneural gene of the achaete-scute complex. It encodes a transcription factor involved in nervous system development, Notch signalling and sex determination.
- GMC2 [Search on AGR]
Saccharomyces cerevisiae Protein involved in meiotic crossing over; component of the Synaptonemal Complex (SC) along with Ecm11p; required for the efficient loading of the SC transverse filament protein, Zip1p; promotes SUMOylation of Ecm11p; mutants are delayed in meiotic nuclear division and are defective in synaptonemal complex assembly; transcription is regulated by Ume6p and induced in response to alpha factor; also detected in peroxisomes
- ECM11 [Search on AGR]
Saccharomyces cerevisiae Meiosis-specific protein; component of the Synaptonemal Complex (SC) along with Gmc2p; required for efficient crossover formation and for the efficient loading of the SC transverse filament protein, Zip1p; is SUMOlytaed in a Gmc2p manner, and SUMOylation is required for its function in meiosis; GFP fusion protein is present in discrete clusters in the nucleus throughout mitosis; may be involved in maintaining chromatin structure