- 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).
- 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.