- Fgfr3 [Search on AGR]
Homo sapiens This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
- fli-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in actin filament-based process and barbed-end actin filament capping. Located in nucleus. Expressed in body wall musculature; germ line; hermaphrodite gonad; and non-striated muscle. Is an ortholog of human FLII (FLII actin remodeling protein).
- Ache [Search on AGR]
Mus musculus PHENOTYPE: Homozygous mutants show retarded postnatal development, tremors, impaired righting response, delayed maturation of external ear, failure of eyelids to open, and die by 3-wk. of age. Mutants are highly sensitive to butyrylcholinesterase inhibitor toxicity. [provided by MGI curators]
- Ache [Search on AGR]
Rattus norvegicus Enables acetylcholine binding activity; acetylcholinesterase activity; and choline binding activity. Involved in several processes, including acetylcholine catabolic process; positive regulation of neurogenesis; and response to insulin. Located in several cellular components, including endoplasmic reticulum lumen; neuronal cell body; and synaptic membrane. Is active in neuromuscular junction and synaptic cleft. Biomarker of acute stress disorder and leptospirosis. Human ortholog(s) of this gene implicated in Alzheimer's disease; epilepsy; and myasthenia gravis. Orthologous to human ACHE (acetylcholinesterase (Cartwright blood group)); PARTICIPATES IN acetylcholine metabolic pathway; acetylcholine signaling pathway via muscarinic acetylcholine receptor; acetylcholine signaling pathway via nicotinic acetylcholine receptor; INTERACTS WITH (+)-catechin; (+)-pilocarpine; (+)-taxifolin.
- Ache [Search on AGR]
Homo sapiens Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]
- ace-3 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables acetylcholinesterase activity and protein homodimerization activity. Involved in several processes, including acetylcholine catabolic process; hatching; and regulation of backward locomotion. Predicted to be located in extracellular space and plasma membrane. Expressed in body wall musculature; neurons; pharyngeal muscle cell; and vulva. Human ortholog(s) of this gene implicated in several diseases, including Alzheimer's disease; artery disease (multiple); and autoimmune disease (multiple). Is an ortholog of human ACHE (acetylcholinesterase (Yt blood group)) and BCHE (butyrylcholinesterase).
- Prima1 [Search on AGR]
Homo sapiens The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]
- rhgf-1 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Enables microtubule binding activity. Involved in axon regeneration. Located in neuronal cell body and varicosity. Expressed in nervous system and spermatheca. Human ortholog(s) of this gene implicated in immunodeficiency 62. Is an ortholog of human ARHGEF11 (Rho guanine nucleotide exchange factor 11).
- ace-4 [Browse genome (BioProject PRJNA13758)] [Search on AGR]
Caenorhabditis elegans Predicted to enable cholinesterase activity. Predicted to be located in extracellular space and plasma membrane. Expressed in body wall musculature; neurons; and pharyngeal muscle cell. Human ortholog(s) of this gene implicated in several diseases, including Alzheimer's disease; artery disease (multiple); and autoimmune disease (multiple). Is an ortholog of human ACHE (acetylcholinesterase (Yt blood group)) and BCHE (butyrylcholinesterase).