Esco2 [Search on AGR]
Homo sapiens This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]
ECO1 [Search on AGR]
Saccharomyces cerevisiae Acetyltransferase required for sister chromatid cohesion; elicits cohesin dimerization during S phase; acetylates Mps3p to regulate nuclear organization; modifies Smc3p at replication forks and Mcd1p in response to dsDNA breaks; phosphorylated by Cdc28p, Cdc7p, Mck1p to generate pair of phosphates spaced precisely for recognition by ubiquitin ligase SCF-Cdc4; relative distribution to nucleus increases upon DNA replication stress; mutations in human homolog ESCO2 cause Roberts syndrome
Reln [Search on AGR]
Rattus norvegicus Predicted to enable very-low-density lipoprotein particle receptor binding activity. Involved in several processes, including nervous system development; response to glucocorticoid; and response to progesterone. Located in several cellular components, including axon; dendrite; and perikaryon. Biomarker of hypothyroidism and status epilepticus. Human ortholog(s) of this gene implicated in Norman-Roberts syndrome; autistic disorder; familial temporal lobe epilepsy 7; and schizophrenia. Orthologous to human RELN (reelin); PARTICIPATES IN Reelin signaling pathway; altered Reelin signaling pathway; cell-extracellular matrix signaling pathway; INTERACTS WITH (R)-lipoic acid; (S)-nicotine; 2,3,7,8-tetrachlorodibenzodioxine.
Esco2 [Search on AGR]
Rattus norvegicus Predicted to enable lysine N-acetyltransferase activity, acting on acetyl phosphate as donor and peptide-lysine-N-acetyltransferase activity. Predicted to be involved in mitotic sister chromatid cohesion and regulation of DNA replication. Predicted to act upstream of or within several processes, including double-strand break repair; hematopoietic progenitor cell differentiation; and protein localization to chromatin. Predicted to be located in several cellular components, including Golgi apparatus; chromocenter; and chromosome. Predicted to be part of pericentric heterochromatin. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in Roberts syndrome and lung adenocarcinoma. Orthologous to human ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2); INTERACTS WITH 1-naphthyl isothiocyanate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.