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
NUMA1
LOCATION
11q13.4
LOCUSID
4926
ALIAS
NMP-22,NUMA
FUSION GENES
Show Gene Fusions

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 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10407calcium channel blockersChemicalClinicalAnnotationassociatedPD24192120
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD24192120

References

Pubmed IDYearTitleCitations
366269042023NuMA deficiency causes micronuclei via checkpoint-insensitive k-fiber minus-end detachment from mitotic spindle poles.6
366269042023NuMA deficiency causes micronuclei via checkpoint-insensitive k-fiber minus-end detachment from mitotic spindle poles.6
351433062022Mechanism of spindle pole organization and instability in human oocytes.42
353225902022Diagnostic performance of nuclear matrix protein 22 and urine cytology for bladder cancer: A meta-analysis.4
356472022022The Role of NMP22 and CSTB Levels in Predicting Postoperative Recurrence of Bladder Cancer.0
357502752022LINC01194 recruits NUMA1 to promote ubiquitination of RYR2 to enhance malignant progression in triple-negative breast cancer.3
359264612022Length-dependent poleward flux of sister kinetochore fibers promotes chromosome alignment.7
351433062022Mechanism of spindle pole organization and instability in human oocytes.42
353225902022Diagnostic performance of nuclear matrix protein 22 and urine cytology for bladder cancer: A meta-analysis.4
356472022022The Role of NMP22 and CSTB Levels in Predicting Postoperative Recurrence of Bladder Cancer.0
357502752022LINC01194 recruits NUMA1 to promote ubiquitination of RYR2 to enhance malignant progression in triple-negative breast cancer.3
359264612022Length-dependent poleward flux of sister kinetochore fibers promotes chromosome alignment.7
331865482021Ran-GTP Is Non-essential to Activate NuMA for Mitotic Spindle-Pole Focusing but Dynamically Polarizes HURP Near Chromosomes.9
341651672021Nuclear IGF1R interacts with NuMA and regulates 53BP1‑dependent DNA double‑strand break repair in colorectal cancer.7
348874242021NuMA 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/numaid119