Human Gene NUMA1 (uc001orm.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 chr11:71,713,911-71,791,573 Size: 77,663 Total Exon Count: 27 Strand: -
Coding Region
   Position: hg19 chr11:71,714,573-71,746,989 Size: 32,417 Coding Exon Count: 24 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:71,713,911-71,791,573)mRNA (may differ from genome)Protein (2101 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCETreefamUniProtKBWikipedia

-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -106.40270-0.394 Picture PostScript Text
3' UTR -269.30662-0.407 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
  ModBase Predicted Comparative 3D Structure on Q14980-2
FrontTopSide
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    

-  Descriptions from all associated GenBank mRNAs
  BC032228 - Homo sapiens nuclear mitotic apparatus protein 1, mRNA (cDNA clone IMAGE:5204250), with apparent retained intron.
Z14229 - H.sapiens NuMA gene (Clone T33).
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.
JD512584 - Sequence 493608 from Patent EP1572962.
JD186857 - Sequence 167881 from Patent EP1572962.
JD071334 - Sequence 52358 from Patent EP1572962.
JD106160 - Sequence 87184 from Patent EP1572962.
JD057628 - Sequence 38652 from Patent EP1572962.
JD277144 - Sequence 258168 from Patent EP1572962.
JD518366 - Sequence 499390 from Patent EP1572962.
JD210779 - Sequence 191803 from Patent EP1572962.
JD497978 - Sequence 479002 from Patent EP1572962.
JD455726 - Sequence 436750 from Patent EP1572962.
JD480343 - Sequence 461367 from Patent EP1572962.
JD539722 - Sequence 520746 from Patent EP1572962.
JD400539 - Sequence 381563 from Patent EP1572962.
JD451896 - Sequence 432920 from Patent EP1572962.
JD055838 - Sequence 36862 from Patent EP1572962.
JD208573 - Sequence 189597 from Patent EP1572962.
JD524908 - Sequence 505932 from Patent EP1572962.
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.
DQ586970 - Homo sapiens piRNA piR-54082, complete sequence.
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.
BC068539 - Homo sapiens cDNA clone IMAGE:4836811.
JD540438 - Sequence 521462 from Patent EP1572962.
JD178960 - Sequence 159984 from Patent EP1572962.
JD240317 - Sequence 221341 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: NM_006185, NP_006176, NUMA, Q14980-2, Z11584
UCSC ID: uc001orm.1
RefSeq Accession: NM_006185
Protein: Q14980-2, splice isoform of Q14980 CCDS: CCDS31633.1, CCDS66156.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: Z11584.1
exon count: 27CDS single in 3' UTR: no RNA size: 7217
ORF size: 6306CDS single in intron: no Alignment % ID: 99.83
txCdsPredict score: 12624.00frame shift in genome: no % Coverage: 99.97
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes 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.