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Protein Coding Gene : Uba1 ubiquitin-like modifier activating enzyme 1

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]
  • synonyms:
  • Ube1x,
  • ubiquitin-activating enzyme E1, Chr X,
  • MGD-MRK-15331,
  • ubiquitin 1,
  • ubiquitin-like modifier activating enzyme 1,
  • MGI:2147838,
  • MGD-MRK-14297,
  • expressed sequence AA989744,
  • MGD-MRK-15328,
  • Uba1,
  • Sbx,
  • A1S9,
  • Ube-1,
  • ts A1S9 defective DNA replication gene,
  • AA989744,
  • Sxrb X-homolog,
  • MGD-MRK-1003

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