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 7.4.0) Enables identical protein binding activity and rRNA binding activity. Involved in positive regulation of protein localization to nucleolus; positive regulation of transcription by RNA polymerase II; and protein stabilization. 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 early conceptus; neural tube; oocyte; small intestine crypt of lieberkuhn; and telencephalon. 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] |