NUMA1 (nuclear mitotic apparatus protein 1)

2000-01-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
11q13.4
LOCUSID
ALIAS
NMP-22,NUMA
FUSION GENES

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

Bibliography

Pubmed IDLast YearTitleAuthors
84327341993NuMA is required for the proper completion of mitosis.Compton DA et al
100989331999NuMA is a component of an insoluble matrix at mitotic spindle poles.Dionne MA et al
86355131996NuMA: a bipartite nuclear location signal and other functional properties of the tail domain.Gueth-Hallonet C et al
100759381999Self assembly of NuMA: multiarm oligomers as structural units of a nuclear lattice.Harborth J et al
79579461994Isolation of human NuMA protein.Kempf T et al
93940131998The role of NuMA in the interphase nucleus.Merdes A et al
88981981996A complex of NuMA and cytoplasmic dynein is essential for mitotic spindle assembly.Merdes A et al
35277291986Redistribution of the nuclear mitotic apparatus protein (NuMA) during mitosis and nuclear assembly. Properties of purified NuMA protein.Price CM et al
92881091997Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia.Wells RA et al
15416301992NuMA: 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

Gene IDTranscript IDUniprot
ENSG00000137497ENST00000351960Q14980
ENSG00000137497ENST00000358965Q14980
ENSG00000137497ENST00000358965A0A024R5M9
ENSG00000137497ENST00000366394F5H073
ENSG00000137497ENST00000368959F8W6T3
ENSG00000137497ENST00000393695Q14980
ENSG00000137497ENST00000535087F5H1L0
ENSG00000137497ENST00000535111F5GWA2
ENSG00000137497ENST00000535838F5H4Y4
ENSG00000137497ENST00000535947F5GZW1
ENSG00000137497ENST00000537217F5H6Y5
ENSG00000137497ENST00000537930F5H2F3
ENSG00000137497ENST00000541584H0YFY6
ENSG00000137497ENST00000541641F5GWK2
ENSG00000137497ENST00000541719F5H068
ENSG00000137497ENST00000542977F5H4J1
ENSG00000137497ENST00000543009F5H3L6
ENSG00000137497ENST00000543937F5H0Z7
ENSG00000137497ENST00000544129F5H2F3
ENSG00000137497ENST00000544238F5H763
ENSG00000137497ENST00000545721K4DIE0
ENSG00000137497ENST00000546131F5H7R5
ENSG00000137497ENST00000613205Q14980
ENSG00000137497ENST00000616538A0A087WY61
ENSG00000137497ENST00000620566Q14980
ENSG00000137497ENST00000620566A0A024R5M9

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Recruitment of NuMA to mitotic centrosomesREACTOMER-HSA-380320

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10407calcium channel blockersChemicalClinicalAnnotationassociatedPD24192120
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD24192120

References

Pubmed IDYearTitleCitations
172938642007A common coding variant in CASP8 is associated with breast cancer risk.218
204791292010Ric-8A and Gi alpha recruit LGN, NuMA, and dynein to the cell cortex to help orient the mitotic spindle.79
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
225522282012Error-prone mammalian female meiosis from silencing the spindle assembly checkpoint without normal interkinetochore tension.57
171724552006Rae1 interaction with NuMA is required for bipolar spindle formation.48
119563132002Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules.47
184175612008Kaposi's sarcoma-associated herpesvirus-encoded LANA can interact with the nuclear mitotic apparatus protein to regulate genome maintenance and segregation.36
197591762009Interaction between Poly(ADP-ribose) and NuMA contributes to mitotic spindle pole assembly.34
239215532013NuMA phosphorylation by CDK1 couples mitotic progression with cortical dynein function.31
155617642004Multiple mechanisms regulate NuMA dynamics at spindle poles.30

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)