Primary Identifier | MGI:1276116 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 328572 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Enables several functions, including N-acyltransferase activity; nucleic acid binding activity; and p53 binding activity. Involved in several processes, including face morphogenesis; protein acylation; and protein stabilization. Acts upstream of or within several processes, including hemopoiesis; regulation of gene expression; and somitogenesis. Part of histone acetyltransferase complex and transcription regulator complex. Is expressed in several structures, including alimentary system; eye; heart; nervous system; and skin. Used to study systemic lupus erythematosus. Human ortholog(s) of this gene implicated in Rubinstein-Taybi syndrome; colorectal cancer; congestive heart failure; and idiopathic pulmonary fibrosis. Orthologous to human EP300 (E1A binding protein p300). PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period. [provided by MGI curators] |