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NUMA1 (nuclear mitotic apparatus protein 1)

Identity

HGNC (Hugo) NUMA1
Location 11q13
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
Entrez_Gene (NCBI)NUMA1  4926  nuclear mitotic apparatus protein 1
Cards
AtlasNUMAID119
GeneCards (Weizmann)NUMA1
Ensembl (Hinxton)ENSG00000137497 [Gene_View]  NUMA1 [Vega]
AceView (NCBI)NUMA1
Genatlas (Paris)NUMA1
euGene (Indiana)4926
SOURCE (Stanford)NM_006185
Gene Expression (Array Express) ENSG00000137497
Genomic and cartography
GoldenPath (UCSC)NUMA1  -  11q13   chr11:71713911-71791573 -  11q13   [Description]    (hg19-Feb_2009)
EnsemblNUMA1 - 11q13 [CytoView]
Mapping of homologs : NCBINUMA1 [Mapview]
OMIM164009   
Gene and transcription
Gene : Genbank (Entrez)AB208841 AB210007 AK290509 AK307577 AK309041
Reference sequence (RefSeq transcript) :SRSNM_006185
Reference transcript : EntrezNM_006185
RefSeq genomic : SRSAC_000054 AC_000143 NC_000011 NT_167190 NW_001838028 NW_925106
RefSeq genomic : EntrezAC_000054 AC_000143 NC_000011 NT_167190 NW_001838028 NW_925106
Consensus coding sequences : CCDS NCBINUMA1
Cluster EST : UnigeneHs.325978 [ SRS ] Hs.325978 [ NCBI ]
Alternative Splicing : Fast-db (Paris)11400
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ14980 (SRS) Q14980 (Expasy) Q14980 (Uniprot)
With graphics : InterProQ14980
Splice isoforms : VarSplice FASTAQ14980(VarSplice FASTA)
Related proteins : CluSTrQ14980
Domain families : Pfam SRS
Domain families : Pfam Sanger
Domain families : Pfam NCBI
Blocks (Seattle)Q14980
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000137497
HPRD01236
Protein Interaction databases
DIP (DOE-UCLA)Q14980
IntAct (EBI)Q14980
FunCoupENSG00000137497
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBINUMA1
SNP : GeneSNP UtahNUMA1
SNP : HGBaseNUMA1
Genetic variants : HAPMAPNUMA1
Cancer Gene: CensusNUMA1 
Somatic Mutations in Cancer : COSMICNUMA1 
Translocation Breakpoints in Cancer : TICdbNUMA1 
Mutations and Diseases : HGMDNUMA1
Hereditary diseases : OMIM164009   
Hereditary diseases : GENETests164009   
Diseases : Genetic AssociationNUMA1
General knowledge
Homologs : HomoloGeneNUMA1
Homology/Alignments : Family Browser UCSCNUMA1
Phylogenetic Trees/Animal Genes : TreeFamNUMA1
Chemical/Protein Interactions : CTD4926
Keywords Ontology : AmiGOmitotic anaphase  spindle pole  structural molecule activity  protein binding  nucleus  nucleoplasm  spindle  cytosol  spindle microtubule  nucleus organization  
Keywords Ontology : EGO-EBImitotic anaphase  spindle pole  structural molecule activity  protein binding  nucleus  nucleoplasm  spindle  cytosol  spindle microtubule  nucleus organization  
Pathways : BIOCARTAHIV-I Nef: negative effector of Fas and TNF [Genes]    Role of Ran in mitotic spindle regulation [Genes]   
Pathways : KEGG
Other databases
Probes
Probes : ImagenesNUMA1 Related clones (RZPD - Berlin)
Literature
PubMed53 Pubmed reference(s) in Entrez
PubGeneNUMA1

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

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indexed on : Thu Jul 15 14:45:00 CEST 2010
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