NUMA1 (nuclear mitotic apparatus protein 1)
2000-01-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
DNA/RNA
Transcription
7217 bp mRNA; coding sequence: 6305 bp
Proteins
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 name
t(11;17)(q13;q21)
Note
must not be confused with the t(11;17)(q23;q21), implicating PLZF and RARA, also in M3-AML (see below)
Disease
atypical M3 acute non lyphoblastic leukemia (AML); only 1 case fully described
Hybrid gene
5 exons of NuMA, fused to the exons encoding the retinoic acid and DNA-binding domains of RARA
Fusion protein
The NuMA-RARA fusion protein forms aggregates in the nucleus where the normal NuMA partly co-localizes
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8432734 | 1993 | NuMA is required for the proper completion of mitosis. | Compton DA et al |
| 10098933 | 1999 | NuMA is a component of an insoluble matrix at mitotic spindle poles. | Dionne MA et al |
| 8635513 | 1996 | NuMA: a bipartite nuclear location signal and other functional properties of the tail domain. | Gueth-Hallonet C et al |
| 10075938 | 1999 | Self assembly of NuMA: multiarm oligomers as structural units of a nuclear lattice. | Harborth J et al |
| 7957946 | 1994 | Isolation of human NuMA protein. | Kempf T et al |
| 9394013 | 1998 | The role of NuMA in the interphase nucleus. | Merdes A et al |
| 8898198 | 1996 | A complex of NuMA and cytoplasmic dynein is essential for mitotic spindle assembly. | Merdes A et al |
| 3527729 | 1986 | Redistribution of the nuclear mitotic apparatus protein (NuMA) during mitosis and nuclear assembly. Properties of purified NuMA protein. | Price CM et al |
| 9288109 | 1997 | Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia. | Wells RA et al |
| 1541630 | 1992 | NuMA: an unusually long coiled-coil related protein in the mammalian nucleus. | Yang CH et al |
Other Information
Locus ID:
NCBI: 4926
MIM: 164009
HGNC: 8059
Ensembl: ENSG00000137497
Variants:
dbSNP: 4926
ClinVar: 4926
TCGA: ENSG00000137497
COSMIC: NUMA1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10407 | calcium channel blockers | Chemical | ClinicalAnnotation | associated | PD | 24192120 | |
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | 24192120 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36626904 | 2023 | NuMA deficiency causes micronuclei via checkpoint-insensitive k-fiber minus-end detachment from mitotic spindle poles. | 6 |
| 36626904 | 2023 | NuMA deficiency causes micronuclei via checkpoint-insensitive k-fiber minus-end detachment from mitotic spindle poles. | 6 |
| 35143306 | 2022 | Mechanism of spindle pole organization and instability in human oocytes. | 42 |
| 35322590 | 2022 | Diagnostic performance of nuclear matrix protein 22 and urine cytology for bladder cancer: A meta-analysis. | 4 |
| 35647202 | 2022 | The Role of NMP22 and CSTB Levels in Predicting Postoperative Recurrence of Bladder Cancer. | 0 |
| 35750275 | 2022 | LINC01194 recruits NUMA1 to promote ubiquitination of RYR2 to enhance malignant progression in triple-negative breast cancer. | 3 |
| 35926461 | 2022 | Length-dependent poleward flux of sister kinetochore fibers promotes chromosome alignment. | 7 |
| 35143306 | 2022 | Mechanism of spindle pole organization and instability in human oocytes. | 42 |
| 35322590 | 2022 | Diagnostic performance of nuclear matrix protein 22 and urine cytology for bladder cancer: A meta-analysis. | 4 |
| 35647202 | 2022 | The Role of NMP22 and CSTB Levels in Predicting Postoperative Recurrence of Bladder Cancer. | 0 |
| 35750275 | 2022 | LINC01194 recruits NUMA1 to promote ubiquitination of RYR2 to enhance malignant progression in triple-negative breast cancer. | 3 |
| 35926461 | 2022 | Length-dependent poleward flux of sister kinetochore fibers promotes chromosome alignment. | 7 |
| 33186548 | 2021 | Ran-GTP Is Non-essential to Activate NuMA for Mitotic Spindle-Pole Focusing but Dynamically Polarizes HURP Near Chromosomes. | 9 |
| 34165167 | 2021 | Nuclear IGF1R interacts with NuMA and regulates 53BP1‑dependent DNA double‑strand break repair in colorectal cancer. | 7 |
| 34887424 | 2021 | NuMA regulates mitotic spindle assembly, structural dynamics and function via phase separation. | 17 |
Citation
Jean-Loup Huret
NUMA1 (nuclear mitotic apparatus protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2000-01-01
Online version: http://atlasgeneticsoncology.org/gene/119/numa1-(nuclear-mitotic-apparatus-protein-1)
