Human pathology

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NUMA1

MIM.164009 11q13

The NUMA1 protein was one of the first to be described as a cell cycle-related protein based on a distinct immunofluorescent staining pattern: in interphase, NUMA1 is present throughout the nucleus, and in mitosis, it localizes to the spindle apparatus.

The full-length NUMA cDNA predicts a protein with an unusually long coiled-coil region.

Pathology

- NUMA1/RARA fusion gene by t(11;17)(q13;q21). in acute promyelocytic leukemia (APL) (NUMA1 at 17q13 and RARA at 17q21).

- Some patients with autoimmune disease have antibodies directed against the NUMA protein.

  • Several proteins in the mitotic spindle apparatus, including the core centrosomal protein NUMA1 (nuclear mitotic apparatus protein 1), are the targets of autoimmune sera from patients.