| Primary Identifier | MGI:106184 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 18148 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables identical protein binding activity and rRNA binding activity. Involved in positive regulation of protein localization to nucleolus and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including positive regulation of protein modification process; regulation of gene expression; and ribosome biogenesis. Located in centrosome; cytosol; and nuclear lumen. Part of large ribosomal subunit and small ribosomal subunit. Is expressed in several structures, including 4-8 cell stage conceptus; blastocyst-stage conceptus; brain; early embryo; and oocyte. Used to study myelodysplastic syndrome. Human ortholog(s) of this gene implicated in acute myeloid leukemia. Orthologous to human NPM1 (nucleophosmin 1). PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality, anemia, defects in primitive hematopoeisis and abnormal brain development. Heterozygous mutation results in hematopoeisis defects and chromosomal instability. [provided by MGI curators] |