Primary Identifier | MGI:1344349 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 108086 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including protein K48-linked ubiquitination; protein catabolic process; and regulation of postsynaptic neurotransmitter receptor internalization. Predicted to act upstream of or within apoptotic process. Predicted to be located in cytosol; nucleoplasm; and synapse. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic endocytic zone. Human ortholog(s) of this gene implicated in Gordon Holmes syndrome. Orthologous to human RNF216 (ring finger protein 216). PHENOTYPE: Nullizygous mutations of this gene result in male infertility associated with decreased testis size and weight, impaired spermatogenesis, decreased male germ cell number, and increased male germ cell apoptosis. [provided by MGI curators] |