Primary Identifier | MGI:109404 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 269966 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including molecular condensate scaffold activity; nuclear localization sequence binding activity; and promoter-specific chromatin binding activity. Predicted to be a structural constituent of nuclear pore. Predicted to be involved in several processes, including nucleocytoplasmic transport; positive regulation of mRNA splicing, via spliceosome; and post-transcriptional tethering of RNA polymerase II gene DNA at nuclear periphery. Located in nucleus. Is expressed in several structures, including nervous system; neural retina; and olfactory epithelium. Human ortholog(s) of this gene implicated in T-cell acute lymphoblastic leukemia. Orthologous to human NUP98 (nucleoporin 98 and 96 precursor). PHENOTYPE: Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions. [provided by MGI curators] |