| Identity |
| HGNC (Hugo) | NUMA1 |
| LocusID (NCBI) | 4926 |
| Location | 11q13.4 |
| Location_base_pair | Starts at 71713911 and ends at 71791573 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| 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 |
| Expression | widely expressed ; also expressed in the whole embryo |
| Localisation | internal nuclear matrix protein in interphase which relocates to the spindle poles in mitotis |
| 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 |
| Implicated in |
| Entity | t(11;17)(q13;q21) |
| 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 co-localizes |
| External links |
| Bibliography |
| Redistribution of the nuclear mitotic apparatus protein (NuMA) during mitosis and nuclear assembly. Properties of purified NuMA protein. |
| Price CM, Pettijohn DE |
| Experimental cell research. 1986 ; 166 (2) : 295-311. |
| PMID 3527729 |
| NuMA: an unusually long coiled-coil related protein in the mammalian nucleus. |
| Yang CH, Lambie EJ, Snyder M |
| The Journal of cell biology. 1992 ; 116 (6) : 1303-1317. |
| PMID 1541630 |
| Primary structure of NuMA, an intranuclear protein that defines a novel pathway for segregation of proteins at mitosis. |
| Compton DA, Szilak I, Cleveland DW |
| The Journal of cell biology. 1992 ; 116 (6) : 1395-1408. |
| PMID 1541636 |
| NuMA is required for the proper completion of mitosis. |
| Compton DA, Cleveland DW |
| The Journal of cell biology. 1993 ; 120 (4) : 947-957. |
| PMID 8432734 |
| Isolation of human NuMA protein. |
| Kempf T, Bischoff FR, Kalies I, Ponstingl H |
| FEBS letters. 1994 ; 354 (3) : 307-310. |
| PMID 7957946 |
| NuMA: a bipartite nuclear location signal and other functional properties of the tail domain. |
| Gueth-Hallonet C, Weber K, Osborn M |
| Experimental cell research. 1996 ; 225 (1) : 207-218. |
| PMID 8635513 |
| A complex of NuMA and cytoplasmic dynein is essential for mitotic spindle assembly. |
| Merdes A, Ramyar K, Vechio JD, Cleveland DW |
| Cell. 1996 ; 87 (3) : 447-458. |
| PMID 8898198 |
| Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia. |
| Wells RA, Catzavelos C, Kamel-Reid S |
| Nature genetics. 1997 ; 17 (1) : 109-113. |
| PMID 9288109 |
| The role of NuMA in the interphase nucleus. |
| Merdes A, Cleveland DW |
| Journal of cell science. 1998 ; 111 ( Pt 1) : 71-79. |
| PMID 9394013 |
| NuMA is a component of an insoluble matrix at mitotic spindle poles. |
| Dionne MA, Howard L, Compton DA |
| Cell motility and the cytoskeleton. 1999 ; 42 (3) : 189-203. |
| PMID 10098933 |
| Self assembly of NuMA: multiarm oligomers as structural units of a nuclear lattice. |
| Harborth J, Wang J, Gueth-Hallonet C, Weber K, Osborn M |
| The EMBO journal. 1999 ; 18 (6) : 1689-1700. |
| PMID 10075938 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 01-2000 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . NUMA1 (nuclear mitotic apparatus protein 1). Atlas Genet Cytogenet Oncol Haematol. January 2000 . URL : http://AtlasGeneticsOncology.org/Genes/NUMAID119.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37577/1/01-2000-NUMAID119.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed May 1 12:58:04 CEST 2013 |
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