Human Gene NUMA1 (uc009ysx.1) Description and Page Index
  Description: Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.
RefSeq Summary (NM_006185): This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013].
Transcript (Including UTRs)
   Position: hg19 chr11:71,723,941-71,752,132 Size: 28,192 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr11:71,723,941-71,746,989 Size: 23,049 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:71,723,941-71,752,132)mRNA (may differ from genome)Protein (1536 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIneXtProtOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: NUMA1_HUMAN
DESCRIPTION: RecName: Full=Nuclear mitotic apparatus protein 1; Short=NuMA protein; AltName: Full=SP-H antigen;
FUNCTION: Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority if the nuclear volume. Required for maintenance and establishment of the mitotic spindle poles, functionning as a tether linking bulk microtubules of the spindle to centrosomes. May be involved in coordination of the alignment of the mitotic spindle to the cellular polarity axis, which is a prerequisite for asymmetric cell divisions.
SUBUNIT: Homodimer. Also forms multiarm oligomers by association of C-terminal tail domains, oligomers may further assemble to form a hexagonal nuclear lattice-like network. Interacts with TNKS.
INTERACTION: P63096:GNAI1; NbExp=4; IntAct=EBI-521611, EBI-618639; P81274:GPSM2; NbExp=6; IntAct=EBI-521611, EBI-618655;
SUBCELLULAR LOCATION: Nucleus matrix. Chromosome. Cytoplasm, cytoskeleton, spindle pole. Note=Resides in the nuclear matrix during interphases. Dissociates from condensing chromosomes during early prophase, and relocates to the spindle poles via dynein/dynamin association, it remain there until the anaphase onset. Before the complete disintegration of the nuclear lamina. As mitosis progresses it reassociates with telophase chromosomes very early during nuclear reformation, before substantial accumulation of lamins on chromosomal surfaces is evident.
SUBCELLULAR LOCATION: Isoform Numa-m: Cytoplasm. Note=Mainly clustered at the centrosomal region.
SUBCELLULAR LOCATION: Isoform Numa-s: Cytoplasm. Note=Mainly clustered at the centrosomal region.
DOMAIN: The C-terminal tubulin-binding domain mediates direct binding to microtubules, independantly of dynein and dynactin, and induces their bundling and stabilization.
PTM: ADP-ribosylated by TNKS during mitosis.
PTM: Phosphorylated in the C-terminal tail during mitosis, probably by CDK1. Phosphorylation increases solubility and promotes association with dynein and subsequent translocation to the spindle poles.
SEQUENCE CAUTION: Sequence=CAA77670.1; Type=Frameshift; Positions=1270, 1299;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NUMAID119.html";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NUMA1
CDC HuGE Published Literature: NUMA1

-  MalaCards Disease Associations
  MalaCards Gene Search: NUMA1
Diseases sorted by gene-association score: leukemia, acute promyelocytic, somatic* (605), acute promyelocytic leukemia numa/rara type* (100), pyuria (11), pulmonary aspergilloma (6), xanthogranulomatous pyelonephritis (6), glossopharyngeal neuralgia (6), chronic cystitis (6), rh isoimmunization (5), glossopharyngeal nerve disease (4), osteogenesis imperfecta, type ii (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.69 RPKM in Prostate
Total median expression: 1448.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.80160-0.224 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Protein Data Bank (PDB) 3-D Structure
MuPIT help

3RO2
- X-ray


ModBase Predicted Comparative 3D Structure on Q14980
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0008022 protein C-terminus binding
GO:0008289 lipid binding
GO:0015631 tubulin binding
GO:0019904 protein domain specific binding
GO:0035091 phosphatidylinositol binding
GO:0044877 macromolecular complex binding
GO:0051010 microtubule plus-end binding
GO:0051011 microtubule minus-end binding
GO:0070840 dynein complex binding
GO:0097718 disordered domain specific binding

Biological Process:
GO:0000132 establishment of mitotic spindle orientation
GO:0001578 microtubule bundle formation
GO:0006997 nucleus organization
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0030513 positive regulation of BMP signaling pathway
GO:0030953 astral microtubule organization
GO:0031116 positive regulation of microtubule polymerization
GO:0032388 positive regulation of intracellular transport
GO:0045618 positive regulation of keratinocyte differentiation
GO:0051301 cell division
GO:0051321 meiotic cell cycle
GO:0051798 positive regulation of hair follicle development
GO:0051984 positive regulation of chromosome segregation
GO:0055048 anastral spindle assembly
GO:0060236 regulation of mitotic spindle organization
GO:0090235 regulation of metaphase plate congression
GO:1902365 positive regulation of protein localization to spindle pole body
GO:1902846 positive regulation of mitotic spindle elongation
GO:1904778 positive regulation of protein localization to cell cortex

Cellular Component:
GO:0000139 Golgi membrane
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005876 spindle microtubule
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0016020 membrane
GO:0016328 lateral plasma membrane
GO:0016363 nuclear matrix
GO:0019897 extrinsic component of plasma membrane
GO:0030425 dendrite
GO:0031616 spindle pole centrosome
GO:0032991 macromolecular complex
GO:0035371 microtubule plus-end
GO:0036449 microtubule minus-end
GO:0043025 neuronal cell body
GO:0055028 cortical microtubule
GO:0061673 mitotic spindle astral microtubule
GO:0070062 extracellular exosome
GO:0072686 mitotic spindle
GO:0097427 microtubule bundle
GO:0097431 mitotic spindle pole
GO:0097575 lateral cell cortex
GO:0099738 cell cortex region
GO:1905720 cytoplasmic microtubule bundle
GO:1990023 mitotic spindle midzone


-  Descriptions from all associated GenBank mRNAs
  BC008345 - Homo sapiens, clone IMAGE:3531356, mRNA, partial cds.
Z14228 - H.sapiens NuMA gene (Clone U4).
BC013023 - Homo sapiens nuclear mitotic apparatus protein 1, mRNA (cDNA clone MGC:4620 IMAGE:3506457), complete cds.
Z14227 - H.sapiens NuMA gene (Clone U6).
BC004165 - Homo sapiens nuclear mitotic apparatus protein 1, mRNA (cDNA clone IMAGE:2819239), complete cds.
AB208841 - Homo sapiens mRNA for Nuclear mitotic apparatus protein 1 variant protein.
AB210007 - Homo sapiens mRNA for NUMA1 variant protein, clone: fg04974.
Z11584 - H.sapiens mRNA for NuMA protein.
Z11583 - H.sapiens mRNA for NuMA protein.
KJ905843 - Synthetic construct Homo sapiens clone ccsbBroadEn_15513 NUMA1 gene, encodes complete protein.
AB463147 - Synthetic construct DNA, clone: pF1KB0023, Homo sapiens NUMA1 gene for nuclear mitotic apparatus protein 1, without stop codon, in Flexi system.
AK307577 - Homo sapiens cDNA, FLJ97525.
AK290509 - Homo sapiens cDNA FLJ76708 partial cds, highly similar to Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.
DQ570167 - Homo sapiens piRNA piR-30279, complete sequence.
BC103765 - Homo sapiens nuclear mitotic apparatus protein 1, mRNA (cDNA clone IMAGE:6527520), partial cds.
BC027493 - Homo sapiens nuclear mitotic apparatus protein 1, mRNA (cDNA clone IMAGE:4540541), partial cds.
BC036808 - Homo sapiens nuclear mitotic apparatus protein 1, mRNA (cDNA clone IMAGE:5725778), with apparent retained intron.
BC043499 - Homo sapiens nuclear mitotic apparatus protein 1, mRNA (cDNA clone IMAGE:5725758), complete cds.
AK309041 - Homo sapiens cDNA, FLJ99082.
AB621824 - Homo sapiens NUMA1 mRNA for nuclear mitotic apparatus protein 1, partial cds, clone: HP08568-RBd66B05.
JD333835 - Sequence 314859 from Patent EP1572962.
JD472709 - Sequence 453733 from Patent EP1572962.
JD496699 - Sequence 477723 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_ranMSpathway - Role of Ran in mitotic spindle regulation

Reactome (by CSHL, EBI, and GO)

Protein Q14980 (Reactome details) participates in the following event(s):

R-HSA-380278 CCNB1:p-T160-CDK1 phosphorylates NUMA1
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-380316 Association of NuMA with microtubules
R-HSA-68875 Mitotic Prophase
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-68886 M Phase
R-HSA-68877 Mitotic Prometaphase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: AK290509, H0YH75, NM_006185, NP_006176, NUMA, NUMA1_HUMAN, Q14980, Q14981
UCSC ID: uc009ysx.1
RefSeq Accession: NM_006185
Protein: Q14980 (aka NUMA1_HUMAN or NUMA_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK290509.1
exon count: 14CDS single in 3' UTR: no RNA size: 2708
ORF size: 4608CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 9237.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.