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NUMA1 (nuclear mitotic apparatus protein 1)

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

Nomenclature
HGNC (Hugo)NUMA1   8059
Cards
AtlasNUMAID119
Entrez_Gene (NCBI)NUMA1  4926  nuclear mitotic apparatus protein 1
GeneCards (Weizmann)NUMA1
Ensembl (Hinxton)ENSG00000137497 [Gene_View]  chr11:71713911-71791573 [Contig_View]  NUMA1 [Vega]
AceView (NCBI)NUMA1
Genatlas (Paris)NUMA1
WikiGenes4926
SOURCE (Princeton)NM_001286561 NM_006185
Genomic and cartography
GoldenPath (UCSC)NUMA1  -  11q13.4   chr11:71713911-71791573 -  11q13   [Description]    (hg19-Feb_2009)
EnsemblNUMA1 - 11q13 [CytoView]
Mapping of homologs : NCBINUMA1 [Mapview]
OMIM164009   
Gene and transcription
Genbank (Entrez)AB208841 AB210007 AB621824 AK290509 AK307577
RefSeq transcript (Entrez)NM_001286561 NM_006185
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NT_167190 NW_001838028 NW_004929380
Consensus coding sequences : CCDS (NCBI)NUMA1
Cluster EST : UnigeneHs.591967 [ NCBI ]
CGAP (NCI)Hs.591967
Alternative Splicing : Fast-db (Paris)GSHG0005991
Alternative Splicing GalleryENSG00000137497
Gene ExpressionNUMA1 [ NCBI-GEO ]     NUMA1 [ SEEK ]   NUMA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14980 (Uniprot)
NextProtQ14980  [Medical]
With graphics : InterProQ14980
Splice isoforms : SwissVarQ14980 (Swissvar)
Domains : Interpro (EBI)NUMA1   
Related proteins : CluSTrQ14980
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations4926
Blocks (Seattle)Q14980
PDB (SRS)3RO2   
PDB (PDBSum)3RO2   
PDB (IMB)3RO2   
PDB (RSDB)3RO2   
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
InParanoidQ14980
Interologous Interaction database Q14980
IntegromeDBNUMA1
STRING (EMBL)NUMA1
Ontologies - Pathways
Ontology : AmiGOG2/M transition of mitotic cell cycle  mitotic anaphase  establishment of mitotic spindle orientation  Golgi membrane  mitotic cell cycle  spindle pole  structural molecule activity  protein binding  nucleus  nucleoplasm  chromosome  nucleolus  cytoplasm  spindle  cytosol  spindle microtubule  nucleus organization  mitosis  nuclear matrix  apical part of cell  cell division  lung epithelial cell differentiation  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  mitotic anaphase  establishment of mitotic spindle orientation  Golgi membrane  mitotic cell cycle  spindle pole  structural molecule activity  protein binding  nucleus  nucleoplasm  chromosome  nucleolus  cytoplasm  spindle  cytosol  spindle microtubule  nucleus organization  mitosis  nuclear matrix  apical part of cell  cell division  lung epithelial cell differentiation  
Pathways : BIOCARTAHIV-I Nef: negative effector of Fas and TNF [Genes]    Role of Ran in mitotic spindle regulation [Genes]   
REACTOMENUMA1
Protein Interaction DatabaseNUMA1
Wikipedia pathwaysNUMA1
Gene fusion - rearrangments
Rearrangement : TICdbNUMA1 [11q13.4]  -  NUMA1 [11q13.4]
Rearrangement : TICdbNUMA1 [11q13.4]  -  NUMA1 [11q13.4]
Rearrangement : TICdbNUMA1 [11q13.4]  -  RARA [17q21.2]
Rearrangement : TICdbRARA [17q21.2]  -  NUMA1 [11q13.4]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NUMA1
SNP (GeneSNP Utah)NUMA1
SNP : HGBaseNUMA1
Genetic variants : HAPMAPNUMA1
1000_GenomesNUMA1 
ICGC programENSG00000137497 
Cancer Gene: CensusNUMA1 
Somatic Mutations in Cancer : COSMICNUMA1 
CONAN: Copy Number AnalysisNUMA1 
Mutations and Diseases : HGMDNUMA1
OMIM164009   
GENETestsNUMA1
Disease Genetic AssociationNUMA1
Huge Navigator NUMA1 [HugePedia]  NUMA1 [HugeCancerGEM]
Genomic VariantsNUMA1  NUMA1 [DGVbeta]
Exome VariantNUMA1
dbVarNUMA1
ClinVarNUMA1
snp3D : Map Gene to Disease4926
General knowledge
Homologs : HomoloGeneNUMA1
Homology/Alignments : Family Browser (UCSC)NUMA1
Phylogenetic Trees/Animal Genes : TreeFamNUMA1
Chemical/Protein Interactions : CTD4926
Chemical/Pharm GKB GenePA31844
Clinical trialNUMA1
Cancer Resource (Charite)ENSG00000137497
Other databases
Probes
Litterature
PubMed113 Pubmed reference(s) in Entrez
CoreMineNUMA1
iHOPNUMA1

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 articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written01-2000Jean-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

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37577/1/01-2000-NUMAID119.pdf   [ Bibliographic record ]

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indexed on : Fri Apr 18 17:25:10 CEST 2014

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