NUMA1 (nuclear mitotic apparatus protein 1)

Identity

Hugo	NUMA1
Location	11q13

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
Hugo	NUMA1
GDB	NUMA1
Entrez_Gene	NUMA1  4926  nuclear mitotic apparatus protein 1
	Cards
Atlas	NUMAID119
GeneCards	NUMA1
Ensembl	NUMA1 [Search_View]   ENSG00000137497 [Gene_View]
Genatlas	NUMA1
GeneLynx	NUMA1
eGenome	NUMA1
euGene	4926
	Genomic and cartography
GoldenPath	NUMA1  -  11q13   chr11:71391559-71469221 -  11q13   [Description]    (hg18-Mar_2006)
Ensembl	NUMA1 - 11q13 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	NUMA1
	Gene and transcription
Genbank	AB208841 [ ENTREZ ]
Genbank	AB210007 [ ENTREZ ]
Genbank	BC004165 [ ENTREZ ]
Genbank	BC008345 [ ENTREZ ]
Genbank	BC013023 [ ENTREZ ]
RefSeq	NM_006185 [ SRS ]    NM_006185 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NT_033927 [ SRS ]    NT_033927 [ ENTREZ ]
RefSeq	NW_925106 [ SRS ]    NW_925106 [ ENTREZ ]
AceView	NUMA1 AceView - NCBI
Unigene	Hs.325978 [ SRS ]    Hs.325978 [ NCBI ]     HS325978 [ spliceNest ]
Fast-db	11400 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q14980 [ SRS]    Q14980 [ EXPASY ]     Q14980 [ INTERPRO ]
CluSTr	Q14980
Blocks	Q14980
HPRD	01236
	Protein Interaction databases
DIP	Q14980
IntAct	Q14980
	Polymorphism : SNP, mutations, diseases
OMIM	164009    [ map ]
GENECLINICS	164009
SNP	NUMA1 [dbSNP-NCBI]
SNP	NM_006185 [SNP-NCI]
SNP	NUMA1 [GeneSNPs - Utah]  NUMA1] [HGBASE - SRS]
HAPMAP	NUMA1 [HAPMAP]
COSMIC	NUMA1 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	NUMA1
	General knowledge
Family Browser	NUMA1 [UCSC Family Browser]
SOURCE	NM_006185
SMD	Hs.325978
SAGE	Hs.325978
GO	mitotic anaphase [Amigo]  mitotic anaphase
GO	spindle pole [Amigo]  spindle pole
GO	structural molecule activity [Amigo]  structural molecule activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	spindle microtubule [Amigo]  spindle microtubule
GO	nuclear organization and biogenesis [Amigo]  nuclear organization and biogenesis
GO	microtubule binding [Amigo]  microtubule binding
GO	nuclear matrix [Amigo]  nuclear matrix
GO	dendrite [Amigo]  dendrite
GO	cell soma [Amigo]  cell soma
GO	meiotic cell cycle [Amigo]  meiotic cell cycle
BIOCARTA	HIV-I Nef: negative effector of Fas and TNF    [Genes]
BIOCARTA	Role of Ran in mitotic spindle regulation    [Genes]
PubGene	NUMA1
TreeFam	NUMA1
CTD	4926 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	NUMA1 Related clones (RZPD - Berlin)
	PubMed
PubMed	42 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	01-2000	Jean-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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:25:40 2008