Download Gene Section NUMA1 (nuclear mitotic apparatus protein 1) in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Gene Section
Mini Review
NUMA1 (nuclear mitotic apparatus protein 1)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: January 2000
Online updated version : http://AtlasGeneticsOncology.org/Genes/NUMAID119.html
DOI: 10.4267/2042/37577
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Note
Must not be confused with the t(11;17)(q23;q21),
implicating PLZF and RARA, also in M3-ANLL (see
below).
Disease
Atypical M3 acute non lyphoblastic leukemia (ANLL);
only 1 case fully described.
Hybrid/Mutated gene
5' exons of NuMA, fused to the exons encoding the
retinoic acid and DNA-binding domains of RARA.
Abnormal protein
The NuMA-RARA fusion protein forms aggregates in
the nucleus where the normal NuMA partly colocalizes.
Identity
HGNC (Hugo): NUMA1
Location: 11q13
DNA/RNA
Transcription
7217 bp mRNA; coding sequence: 6305 bp.
Protein
Description
2101 amino acids; 239 kDa; the globular COOH tail
domain contains a nuclear targeting sequence, a site for
binding to the mitotic spindle and a site responsible for
nuclear reformation; can build multiarm oligomers.
References
Price CM, Pettijohn DE. Redistribution of the nuclear mitotic
apparatus protein (NuMA) during mitosis and nuclear
assembly. Properties of purified NuMA protein. Exp Cell Res.
1986 Oct;166(2):295-311
Expression
Widely expressed ; also expressed in the whole
embryo.
Compton DA, Szilak I, Cleveland DW. Primary structure of
NuMA, an intranuclear protein that defines a novel pathway for
segregation of proteins at mitosis. J Cell Biol. 1992
Mar;116(6):1395-408
Localisation
Internal nuclear matrix protein in interphase which
relocates to the spindle poles in mitotis.
Yang CH, Lambie EJ, Snyder M. NuMA: an unusually long
coiled-coil related protein in the mammalian nucleus. J Cell
Biol. 1992 Mar;116(6):1303-17
Function
Component of the mitotic spindle matrix: associates
with microtubule motors during mitosis; essential role
in organizing microtubule minus ends at spindle poles
(anchors the microtubule ends); on the other hand, may
not be essential in the nucleoskeleton structural
architecture during interphase.
Compton DA, Cleveland DW. NuMA is required for the proper
completion of mitosis. J Cell Biol. 1993 Feb;120(4):947-57
Kempf T, Bischoff FR, Kalies I, Ponstingl H. Isolation of human
NuMA protein. FEBS Lett. 1994 Nov 14;354(3):307-10
Gueth-Hallonet C, Weber K, Osborn M. NuMA: a bipartite
nuclear location signal and other functional properties of the
tail domain. Exp Cell Res. 1996 May 25;225(1):207-18
Implicated in
Merdes A, Ramyar K, Vechio JD, Cleveland DW. A complex of
NuMA and cytoplasmic dynein is essential for mitotic spindle
assembly. Cell. 1996 Nov 1;87(3):447-58
t(11;17)(q13;q21)
Atlas Genet Cytogenet Oncol Haematol. 2000; 4(1)
7
NUMA1 (nuclear mitotic apparatus protein 1)
Huret JL
Wells RA, Catzavelos C, Kamel-Reid S. Fusion of retinoic acid
receptor alpha to NuMA, the nuclear mitotic apparatus protein,
by a variant translocation in acute promyelocytic leukaemia.
Nat Genet. 1997 Sep;17(1):109-13
Harborth J, Wang J, Gueth-Hallonet C, Weber K, Osborn M.
Self assembly of NuMA: multiarm oligomers as structural units
of a nuclear lattice. EMBO J. 1999 Mar 15;18(6):1689-700
This article should be referenced as such:
Merdes A, Cleveland DW. The role of NuMA in the interphase
nucleus. J Cell Sci. 1998 Jan;111 ( Pt 1):71-9
Huret JL. NUMA1 (nuclear mitotic apparatus protein 1). Atlas
Genet Cytogenet Oncol Haematol. 2000; 4(1):7-8.
Dionne MA, Howard L, Compton DA. NuMA is a component of
an insoluble matrix at mitotic spindle poles. Cell Motil
Cytoskeleton. 1999;42(3):189-203
Atlas Genet Cytogenet Oncol Haematol. 2000; 4(1)
8