Primary Identifier | MGI:1923038 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 75788 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable SMAD binding activity; signaling receptor binding activity; and ubiquitin protein ligase activity. Involved in type 2 mitophagy. Acts upstream of or within negative regulation of ossification and protein ubiquitination. Predicted to be located in axon and neuronal cell body. Predicted to be active in cytoplasm and plasma membrane. Predicted to colocalize with mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and respiratory system. Orthologous to human SMURF1 (SMAD specific E3 ubiquitin protein ligase 1). PHENOTYPE: Mice homozygous for one knock-out allele display increased osteoblast function, bone density, and thickness of the cortical bone in long bones. Mice homozygous for a different knock-out allele are viable and only display gastrulation defects in combination with a Smurf2 knock-out allele. [provided by MGI curators] |