- pfut-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables peptide-O-fucosyltransferase activity. Involved in protein O-linked fucosylation. Predicted to be located in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Dowling-Degos disease. Is an ortholog of human POFUT1 (protein O-fucosyltransferase 1).
- ifc-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in several processes, including heterochromatin formation; nucleus organization; and protein localization to nuclear envelope. Predicted to be located in nuclear envelope and nuclear lamina. Expressed in hypodermis; intestine; and pharynx. Human ortholog(s) of this gene implicated in several diseases, including Dowling-Degos disease; ichthyosis (multiple); and palmoplantar keratosis (multiple). Is an ortholog of several human genes including KRT1 (keratin 1); KRT2 (keratin 2); and KRT3 (keratin 3).
- ifc-2 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to be a structural constituent of cytoskeleton. Involved in post-embryonic digestive tract morphogenesis. Located in cytoplasm and desmosome. Expressed in several structures, including excretory canal; pharyngeal-intestinal valve; pharynx; rectal valve cell; and uterus. Human ortholog(s) of this gene implicated in several diseases, including Dowling-Degos disease; ichthyosis (multiple); and palmoplantar keratosis (multiple). Is an ortholog of several human genes including KRT1 (keratin 1); KRT2 (keratin 2); and KRT3 (keratin 3).
- bond [Search on AGR]
Drosophila melanogaster james bond (bond) encodes a member of the Elov1 family of enzymes that function as very long chain fatty acid elongases. It contributes to sperm generation and the production of the male sex pheromone CH503 in the ejaculatory bulb.
- Bfsp2 [Search on AGR]
Homo sapiens More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
- Krt5 [Search on AGR]
Rattus norvegicus Predicted to enable scaffold protein binding activity. Predicted to be a structural constituent of skin epidermis. Predicted to be involved in several processes, including intermediate filament cytoskeleton organization; keratinization; and response to mechanical stimulus. Located in keratin filament. Biomarker of urinary bladder cancer. Human ortholog(s) of this gene implicated in Dowling-Degos disease; epidermolysis bullosa simplex; and epidermolysis bullosa simplex with mottled pigmentation. Orthologous to human KRT5 (keratin 5); INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-Tetrachlorodibenzofuran; 6-propyl-2-thiouracil.
- Poglut1 [Search on AGR]
Homo sapiens This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
- Poglut1 [Search on AGR]
Rattus norvegicus Predicted to enable UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Predicted to be involved in several processes, including positive regulation of Notch signaling pathway; protein O-linked glycosylation via serine; and regulation of gastrulation. Predicted to act upstream of or within several processes, including paraxial mesoderm development; regulation of Notch signaling pathway; and somitogenesis. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system. Human ortholog(s) of this gene implicated in Dowling-Degos disease and autosomal recessive limb-girdle muscular dystrophy type 2Z. Orthologous to human POGLUT1 (protein O-glucosyltransferase 1); INTERACTS WITH bisphenol A; flutamide; gentamycin.
- Pofut1 [Search on AGR]
Rattus norvegicus Predicted to enable peptide-O-fucosyltransferase activity. Predicted to be involved in protein O-linked fucosylation and regulation of Notch signaling pathway. Predicted to act upstream of or within several processes, including Notch signaling pathway; circulatory system development; and somitogenesis. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Dowling-Degos disease. Orthologous to human POFUT1 (protein O-fucosyltransferase 1); PARTICIPATES IN altered Notch signaling pathway; altered Notch signaling pathway involving the macromolecules modifying the main players; Notch signaling pathway; INTERACTS WITH 2,4,6-trinitrotoluene; 2,6-dinitrotoluene; 6-propyl-2-thiouracil.