Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

NUMA1 (nuclear mitotic apparatus protein 1)

Written2000-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) NUMA1
LocusID (NCBI) 4926
Atlas_Id 119
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 71713910 and ends at 71791739 bp from pter ( according to hg19-Feb_2009)  [Mapping NUMA1.png]
Fusion genes
(updated 2016)
ADAM12 (10q26.2) / NUMA1 (11q13.4)DNMT3A (2p23.3) / NUMA1 (11q13.4)FTSJ2 (7p22.3) / NUMA1 (11q13.4)
GLG1 (16q23.1) / NUMA1 (11q13.4)ITM2C (2q37.1) / NUMA1 (11q13.4)NUMA1 (11q13.4) / AATF (17q12)
NUMA1 (11q13.4) / ABHD12 (20p11.21)NUMA1 (11q13.4) / ADARB2 (10p15.3)NUMA1 (11q13.4) / CRYM (16p12.2)
NUMA1 (11q13.4) / FAM83B (6p12.1)NUMA1 (11q13.4) / FOLR1 (11q13.4)NUMA1 (11q13.4) / HLA-C (6p21.33)
NUMA1 (11q13.4) / ITM2B (13q14.2)NUMA1 (11q13.4) / LSM10 (1p34.3)NUMA1 (11q13.4) / MIOX (22q13.33)
NUMA1 (11q13.4) / NUMA1 (11q13.4)NUMA1 (11q13.4) / PITPNM1 (11q13.2)NUMA1 (11q13.4) / PPP2R5B (11q13.1)
NUMA1 (11q13.4) / PTH (11p15.2)NUMA1 (11q13.4) / RAB40B (17q25.3)NUMA1 (11q13.4) / RARA (17q21.2)
NUMA1 (11q13.4) / SFN (1p36.11)NUMA1 (11q13.4) / TRPT1 (11q13.1)NUMA1 (11q13.4) / UBA2 (19q13.11)
RAB40B (17q25.3) / NUMA1 (11q13.4)RARA (17q21.2) / NUMA1 (11q13.4)SHANK2 (11q13.3) / NUMA1 (11q13.4)
SLC35A4 (5q31.3) / NUMA1 (11q13.4)

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

Note
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-AML (see below)
Disease atypical M3 acute non lyphoblastic leukemia (AML); 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
  

Bibliography

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
 
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
 
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
 
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
 
Isolation of human NuMA protein.
Kempf T, Bischoff FR, Kalies I, Ponstingl H
FEBS letters. 1994 ; 354 (3) : 307-310.
PMID 7957946
 
The role of NuMA in the interphase nucleus.
Merdes A, Cleveland DW
Journal of cell science. 1998 ; 111 ( Pt 1) : 71-79.
PMID 9394013
 
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
 
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
 
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
 
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
 

Citation

This paper should be referenced as such :
Huret, JL
NUMA1 (nuclear mitotic apparatus protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):7-8.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/NUMAID119.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  M3/M3v acute myeloid leukemia (AML M3/M3v);Acute promyelocytic leukemia (APL)
t(4;17)(q12;q21) FIP1L1/RARA
t(11;17)(q23;q21) ZBTB16/RARA
t(11;17)(q13;q21) NUMA1/RARA
t(15;17)(q24;q21) PML/RARA

External links

Nomenclature
HGNC (Hugo)NUMA1   8059
Cards
AtlasNUMAID119
Entrez_Gene (NCBI)NUMA1  4926  nuclear mitotic apparatus protein 1
AliasesNMP-22; NUMA
GeneCards (Weizmann)NUMA1
Ensembl hg19 (Hinxton)ENSG00000137497 [Gene_View]  chr11:71713910-71791739 [Contig_View]  NUMA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000137497 [Gene_View]  chr11:71713910-71791739 [Contig_View]  NUMA1 [Vega]
ICGC DataPortalENSG00000137497
TCGA cBioPortalNUMA1
AceView (NCBI)NUMA1
Genatlas (Paris)NUMA1
WikiGenes4926
SOURCE (Princeton)NUMA1
Genomic and cartography
GoldenPath hg19 (UCSC)NUMA1  -     chr11:71713910-71791739 -  11q13.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NUMA1  -     11q13.4   [Description]    (hg38-Dec_2013)
EnsemblNUMA1 - 11q13.4 [CytoView hg19]  NUMA1 - 11q13.4 [CytoView hg38]
Mapping of homologs : NCBINUMA1 [Mapview hg19]  NUMA1 [Mapview hg38]
OMIM164009   612376   
Gene and transcription
Genbank (Entrez)AB208841 AB210007 AB621824 AK290509 AK307577
RefSeq transcript (Entrez)NM_001286561 NM_006185
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)NUMA1
Cluster EST : UnigeneHs.591967 [ NCBI ]
CGAP (NCI)Hs.591967
Alternative Splicing GalleryENSG00000137497
Gene ExpressionNUMA1 [ NCBI-GEO ]   NUMA1 [ EBI - ARRAY_EXPRESS ]   NUMA1 [ SEEK ]   NUMA1 [ MEM ]
Gene Expression Viewer (FireBrowse)NUMA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4926
GTEX Portal (Tissue expression)NUMA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14980 (Uniprot)
NextProtQ14980  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14980
Splice isoforms : SwissVarQ14980 (Swissvar)
PhosPhoSitePlusQ14980
Domains : Interpro (EBI)NUMA1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations4926
Blocks (Seattle)NUMA1
PDB (SRS)3RO2   
PDB (PDBSum)3RO2   
PDB (IMB)3RO2   
PDB (RSDB)3RO2   
Structural Biology KnowledgeBase3RO2   
SCOP (Structural Classification of Proteins)3RO2   
CATH (Classification of proteins structures)3RO2   
SuperfamilyQ14980
Human Protein AtlasENSG00000137497
Peptide AtlasQ14980
HPRD01236
IPIIPI00292771   IPI00006196   IPI01015783   IPI01012656   IPI01009141   IPI01010610   IPI00030136   IPI01015043   IPI01014511   IPI01012941   IPI01011637   IPI01011140   IPI01012583   IPI01012118   IPI01009985   IPI01009512   IPI01010464   IPI01010426   IPI01014472   IPI01010468   
Protein Interaction databases
DIP (DOE-UCLA)Q14980
IntAct (EBI)Q14980
FunCoupENSG00000137497
BioGRIDNUMA1
STRING (EMBL)NUMA1
ZODIACNUMA1
Ontologies - Pathways
QuickGOQ14980
Ontology : AmiGOestablishment of mitotic spindle orientation  Golgi membrane  spindle pole  structural molecule activity  protein binding  nucleus  nucleoplasm  nucleoplasm  chromosome  cytoplasm  centrosome  spindle  cytosol  spindle microtubule  cell cortex  nucleus organization  mitotic nuclear division  microtubule binding  nuclear matrix  dendrite  neuronal cell body  apical part of cell  cell division  meiotic cell cycle  lung epithelial cell differentiation  mitotic spindle astral microtubule  extracellular exosome  mitotic spindle  mitotic spindle pole  
Ontology : EGO-EBIestablishment of mitotic spindle orientation  Golgi membrane  spindle pole  structural molecule activity  protein binding  nucleus  nucleoplasm  nucleoplasm  chromosome  cytoplasm  centrosome  spindle  cytosol  spindle microtubule  cell cortex  nucleus organization  mitotic nuclear division  microtubule binding  nuclear matrix  dendrite  neuronal cell body  apical part of cell  cell division  meiotic cell cycle  lung epithelial cell differentiation  mitotic spindle astral microtubule  extracellular exosome  mitotic spindle  mitotic spindle pole  
Pathways : BIOCARTAHIV-I Nef: negative effector of Fas and TNF [Genes]    Role of Ran in mitotic spindle regulation [Genes]   
NDEx Network
Atlas of Cancer Signalling NetworkNUMA1
Wikipedia pathwaysNUMA1
Orthology - Evolution
OrthoDB4926
GeneTree (enSembl)ENSG00000137497
Phylogenetic Trees/Animal Genes : TreeFamNUMA1
Homologs : HomoloGeneNUMA1
Homology/Alignments : Family Browser (UCSC)NUMA1
Gene fusions - Rearrangements
Fusion : MitelmanNUMA1/AATF [11q13.4/17q12]  
Fusion : MitelmanNUMA1/ABHD12 [11q13.4/20p11.21]  [t(11;20)(q13;p11)]  
Fusion : MitelmanNUMA1/ADARB2 [11q13.4/10p15.3]  [t(10;11)(p15;q13)]  
Fusion : MitelmanNUMA1/CRYM [11q13.4/16p12.2]  [t(11;16)(q13;p12)]  
Fusion : MitelmanNUMA1/FAM83B [11q13.4/6p12.1]  [t(6;11)(p12;q13)]  
Fusion : MitelmanNUMA1/FOLR1 [11q13.4/11q13.4]  [t(11;11)(q13;q13)]  
Fusion : MitelmanNUMA1/PITPNM1 [11q13.4/11q13.2]  [t(11;11)(q13;q13)]  
Fusion : MitelmanNUMA1/PPP2R5B [11q13.4/11q13.1]  [t(11;11)(q13;q13)]  
Fusion : MitelmanNUMA1/PTH [11q13.4/11p15.2]  [t(11;11)(p15;q13)]  
Fusion : MitelmanNUMA1/RARA [11q13.4/17q21.2]  [t(11;17)(q13;q21)]  
Fusion : MitelmanNUMA1/SFN [11q13.4/1p36.11]  [t(1;11)(p36;q13)]  
Fusion : MitelmanNUMA1/TRPT1 [11q13.4/11q13.1]  [t(11;11)(q13;q13)]  
Fusion : MitelmanNUMA1/UBA2 [11q13.4/19q13.11]  [t(11;19)(q13;q13)]  
Fusion : MitelmanSHANK2/NUMA1 [11q13.3/11q13.4]  [t(11;11)(q13;q13)]  
Fusion: TCGANUMA1 11q13.4 AATF 17q12 BRCA
Fusion: TCGANUMA1 11q13.4 ABHD12 20p11.21 LUSC
Fusion: TCGANUMA1 11q13.4 ADARB2 10p15.3 BRCA
Fusion: TCGANUMA1 11q13.4 CRYM 16p12.2 PRAD
Fusion: TCGANUMA1 11q13.4 FAM83B 6p12.1 BRCA
Fusion: TCGANUMA1 11q13.4 FOLR1 11q13.4 LGG
Fusion: TCGANUMA1 11q13.4 PITPNM1 11q13.2 BRCA
Fusion: TCGANUMA1 11q13.4 PPP2R5B 11q13.1 BRCA
Fusion: TCGANUMA1 11q13.4 PTH 11p15.2 BRCA
Fusion: TCGANUMA1 11q13.4 SFN 1p36.11 HNSC
Fusion: TCGANUMA1 11q13.4 TRPT1 11q13.1 LUAD
Fusion: TCGANUMA1 11q13.4 UBA2 19q13.11 LGG
Fusion: TCGASHANK2 11q13.3 NUMA1 11q13.4 BRCA
Fusion : TICdbNUMA1 [11q13.4]  -  RARA [17q21.2]
Fusion Cancer (Beijing)NUMA1 [11q13.4]  -  HLA-C [6p21.33]  [FUSC002465]
Polymorphisms : SNP, variants
NCBI Variation ViewerNUMA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUMA1
dbVarNUMA1
ClinVarNUMA1
1000_GenomesNUMA1 
Exome Variant ServerNUMA1
ExAC (Exome Aggregation Consortium)NUMA1 (select the gene name)
Genetic variants : HAPMAP4926
Genomic Variants (DGV)NUMA1 [DGVbeta]
Mutations
ICGC Data PortalNUMA1 
TCGA Data PortalNUMA1 
Broad Tumor PortalNUMA1
OASIS PortalNUMA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNUMA1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NUMA1
DgiDB (Drug Gene Interaction Database)NUMA1
DoCM (Curated mutations)NUMA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUMA1 (select a term)
intoGenNUMA1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:71713910-71791739  ENSG00000137497
CONAN: Copy Number AnalysisNUMA1 
Mutations and Diseases : HGMDNUMA1
OMIM164009    612376   
MedgenNUMA1
Genetic Testing Registry NUMA1
NextProtQ14980 [Medical]
TSGene4926
GENETestsNUMA1
Huge Navigator NUMA1 [HugePedia]
snp3D : Map Gene to Disease4926
BioCentury BCIQNUMA1
ClinGenNUMA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4926
Chemical/Pharm GKB GenePA31844
Clinical trialNUMA1
Miscellaneous
canSAR (ICR)NUMA1 (select the gene name)
Probes
Litterature
PubMed138 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNUMA1
EVEXNUMA1
GoPubMedNUMA1
iHOPNUMA1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Aug 10 18:49:05 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.