Primary Identifier | MGI:3693832 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 14339 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable NEDD8 transferase activity. Predicted to be involved in several processes, including early endosome to late endosome transport; protein localization to perinuclear region of cytoplasm; and protein neddylation. Predicted to act upstream of or within positive regulation of protein phosphorylation. Predicted to be located in plasma membrane. Predicted to be part of FHF complex and HOPS complex. Predicted to be active in nucleus. Is expressed in several structures, including ganglia; genitourinary system; hemolymphoid system gland; lung; and skin. Orthologous to human AKTIP (AKT interacting protein). PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit impaired growth, skeletal and skin defects, abnormal heart tissue, and sterility. [provided by MGI curators] |