Primary Identifier | MGI:894323 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 19386 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables SUMO transferase activity. Involved in nuclear export. Acts upstream of or within regulation of gluconeogenesis. Predicted to be located in annulate lamellae; cytoplasmic periphery of the nuclear pore complex; and nucleus. Predicted to be part of SUMO ligase complex; nuclear pore cytoplasmic filaments; and nuclear pore nuclear basket. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; hemolymphoid system; and nervous system. Human ortholog(s) of this gene implicated in brain disease and inflammatory myofibroblastic tumor. Orthologous to several human genes including RANBP2 (RAN binding protein 2). PHENOTYPE: Mice homozygous for a knock-out allele show abnormal morula morphology and complete embryonic lethality before implantation, with failure of blastocyst formation in in-vitro outgrowth assays. Mice homozygous for a gene trap allele are embryonic lethal, while heterozygotes display reduced ATP levels in the CNS, decreased glucose clearance, decreased susceptibility to diet-induced obesity, and reduced scotopic responses on some backgrounds . [provided by MGI curators] |