Primary Identifier | MGI:98890 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 22201 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin activating enzyme activity. Predicted to be involved in DNA damage response; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Predicted to be located in cytosol; mitochondrion; and nucleoplasm. Predicted to be active in cytoplasm and nucleus. Predicted to colocalize with bounding membrane of organelle; desmosome; and heterochromatin. Is expressed in adrenal gland; brain; gonad; liver; and lung. Human ortholog(s) of this gene implicated in VEXAS syndrome and X-linked spinal muscular atrophy 2. Orthologous to human UBA1 (ubiquitin like modifier activating enzyme 1). PHENOTYPE: Male mice hemozygous for a null allele exhibit peri-implantation lethality. [provided by MGI curators] |