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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NUMA1 Gene

protein-coding   GIFtS: 61
GCID: GC11M071713

Nuclear Mitotic Apparatus Protein 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nuclear Mitotic Apparatus Protein 11 2
NUMA2 3
SP-H Antigen2 3
Centrophilin Stabilizes Mitotic Spindle In Mitotic Cells2
Structural Nuclear Protein2
NuMA Protein3

External Ids:    HGNC: 80591   Entrez Gene: 49262   Ensembl: ENSG000001374977   OMIM: 1640095   UniProtKB: Q149803   

Export aliases for NUMA1 gene to outside databases

Previous GC identifers: GC11M074046 GC11M073253 GC11M071936 GC11M071440 GC11M071391 GC11M068007


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NUMA1 Gene: 
NUMA1 (nuclear mitotic apparatus protein 1) is a protein-coding gene. Diseases associated with NUMA1 include acute promyelocytic leukemia, and breast cancer susceptibility, and among its related super-pathways are Apoptosis and survival Caspase cascade and G2/M Transition. GO annotations related to this gene include protein binding and structural molecule activity.

UniProtKB/Swiss-Prot: NUMA1_HUMAN, Q14980
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

Gene Wiki entry for NUMA1 (Nuclear mitotic apparatus protein 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NUMA1 gene promoter:
         SRF   Sox5   SRF (504 AA)   FOXD1   CUTL1   Nkx2-5   GATA-2   HEN1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NUMA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NUMA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NUMA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13

NUMA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUMA1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M071713:  view genomic region     (about GC identifiers)

Start:
71,713,910 bp from pter      End:
71,791,739 bp from pter
Size:
77,830 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NUMA1_HUMAN, Q14980 (See protein sequence)
Recommended Name: Nuclear mitotic apparatus protein 1  
Size: 2115 amino acids; 238260 Da
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
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
Sequence caution: Sequence=CAA77670.1; Type=Frameshift; Positions=1270, 1299;
1 PDB 3D structure from and Proteopedia for NUMA1:
3RO2 (3D)    
Secondary accessions: H0YH75 Q14981
Alternative splicing: 4 isoforms:  Q14980-1   Q14980-2   Q14980-3   Q14980-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NUMA1: NX_Q14980

Explore proteomics data for NUMA1 at MOPED 

Post-translational modifications:

  • UniProtKB: ADP-ribosylated by TNKS during mitosis
  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14980

  • NUMA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NUMA1 Protein Expression
    REFSEQ proteins: NP_006176.2  
    ENSEMBL proteins: 
     ENSP00000440954   ENSP00000260051   ENSP00000351851   ENSP00000377298   ENSP00000446396  
     ENSP00000444880   ENSP00000442936   ENSP00000442761   ENSP00000439759   ENSP00000438821  
     ENSP00000438589   ENSP00000439092   ENSP00000444175   ENSP00000439576   ENSP00000357955  
     ENSP00000438331   ENSP00000438318   ENSP00000441598   ENSP00000441674   ENSP00000444831  
     ENSP00000442331  
    Reactome Protein details: Q14980
    Human Recombinant Protein Products for NUMA1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NUMA1 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0000922spindle pole IDA14718566
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005694chromosome IEA--

    NUMA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q14980

    UniProtKB/Swiss-Prot: NUMA1_HUMAN, Q14980
    Domain: The C-terminal tubulin-binding domain mediates direct binding to microtubules, independantly of dynein and
    dynactin, and induces their bundling and stabilization


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NUMA1_HUMAN, Q14980
    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

         Genatlas biochemistry entry for NUMA1:
    nuclear mitotic apparatus protein

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005198structural molecule activity TAS1541630
    GO:0005515protein binding IPI15537540
         
    NUMA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NUMA1:
     Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Numa1):
     behavior/neurological  cellular  mortality/aging  nervous system 

    NUMA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Numa1tm1.2Dwc for NUMA1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NUMA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NUMA1

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    SwitchGear 3'UTR luciferase reporter plasmidNUMA1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NUMA1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades0.44
    Caspase cascade in apoptosis0.42
    Apoptosis and survival Caspase cascade0.44
    2Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    G2/M Transition0.83
    Centrosome maturation0.83
    Mitotic G2-G2/M phases0.81
    3Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    4Granzyme Pathway
    Granzyme Pathway0.42
    Granzyme-B Pathway0.42
    5Cell cycle Spindle assembly and chromosome separation
    Cell cycle Spindle assembly and chromosome separation0.94

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for NUMA1
        Cell cycle Spindle assembly and chromosome separation
    Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NUMA1
        Granzyme-B Pathway
    Granzyme Pathway

    1 Cell Signaling Technology (CST) Pathway for NUMA1
        Cell Cycle / Checkpoint Control

    3 GeneGo (Thomson Reuters) Pathways for NUMA1
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades
    Cell cycle Spindle assembly and chromosome separation

    1 BioSystems Pathway for NUMA1
        Caspase cascade in apoptosis

    5/7        Reactome Pathways for NUMA1 (see all 7)
        Centrosome maturation
    G2/M Transition
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    Mitotic G2-G2/M phases



    NUMA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NUMA1

    5/28 Interacting proteins for NUMA1 (Q149801, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GPSM2P812741, 3EBI-521611,EBI-618655 I2D: score=4 
    GNAI1P630961, 3EBI-521611,EBI-618639 I2D: score=3 
    HSP90AB1P082382, 3MINT-72664 I2D: score=3 
    YWHAZP631042, 3MINT-3295089 I2D: score=1 
    EPB41P111713I2D: score=4 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000090mitotic anaphase TAS1541636
    GO:0000132establishment of mitotic spindle orientation IEA--
    GO:0000278mitotic cell cycle TAS--
    GO:0006997nucleus organization TAS1541630

    NUMA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NUMA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NUMA1

    6 Novoseek inferred chemical compound relationships for NUMA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nocodazole 46.3 2 1679010 (1), 12477396 (1)
    retinoic acid 40.7 3 9288109 (2), 10360373 (1)
    paclitaxel 16.7 1 11781568 (1)
    nacl 0 1 1679010 (1)
    atp 0 1 1679010 (1)
    threonine 0 1 7769006 (1)

    Search CenterWatch for drugs/clinical trials and news about NUMA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NUMA1 gene: 
    NM_006185.2  

    Unigene Cluster for NUMA1:

    Nuclear mitotic apparatus protein 1
    Hs.325978  [show with all ESTs]
    Unigene Representative Sequence: Z11584
    18/31 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31):
    ENST00000540626(uc001orj.2) ENST00000541584 ENST00000351960(uc001ork.1)
    ENST00000358965(uc009ysw.1 uc009ysx.1 uc001oro.1 uc001orm.1)
    ENST00000393695(uc001orn.2 uc001orl.1) ENST00000541262 ENST00000545721
    ENST00000546036 ENST00000540588 ENST00000542977 ENST00000537217 ENST00000534987(uc001orp.3)
    ENST00000540843(uc009ysy.2 uc001orq.3) ENST00000536119 ENST00000544238
    ENST00000543937(uc021qmw.1) ENST00000543009 ENST00000537930
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate NUMA1 (see all 25):
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    Additional mRNA sequence: 

    AB208841.1 AB210007.1 AB621824.1 AK290509.1 AK307577.1 AK309041.1 BC004165.2 BC008345.1 
    BC013023.2 BC027493.1 BC032228.1 BC036808.1 BC043499.1 BC068539.1 BC103765.1 BC126909.1 
    Z11583.1 Z11584.1 Z14227.1 Z14228.1 Z14229.1 

    24/36 DOTS entries (see all 36):

    DT.100881038  DT.100881042  DT.448720  DT.95201570  DT.40132911  DT.95201565  DT.120712074  DT.91715291 
    DT.95090721  DT.95103148  DT.100034579  DT.92324397  DT.95324983  DT.120712033  DT.120712043  DT.91713375 
    DT.100881034  DT.75120030  DT.95137931  DT.40305758  DT.120711938  DT.120712069  DT.120711924  DT.100045744 

    24/824 AceView cDNA sequences (see all 824):

    BF725649 CA393711 BE264135 BP356745 CD517934 BM804991 BF037740 BI913669 
    BG754891 BM467702 BQ679648 BI752661 CD673645 BE245732 CR606262 BU541638 
    BM556273 BM686154 AI926181 BP358649 AL044480 BP363877 BE255294 AI872875 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for NUMA1 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b · 12c ^
    SP1:                                      -     -     -     -           -     -     -     -     -                 -                 -                       -   
    SP2:                                -     -     -     -     -           -     -     -     -     -                 -                 -                       -   
    SP3:                                                                          -     -     -     -                 -                 -                       -   
    SP4:                                                                    -     -     -     -     -                 -                 -                           
    SP5:                                -     -     -     -     -           -     -           -     -                 -                                             

    ExUns: 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c ^ 28a · 28b
    SP1:                                            -                                                                                                         
    SP2:                                                                                                                                                      
    SP3:                                                                                                                                                      
    SP4:                                                                                                                                                      
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for NUMA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NUMA1 expression in normal human tissues (normalized intensities)      NUMA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAGTGTGG
    NUMA1 Expression
    About this image


    NUMA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/38 selected tissues (see all 38) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Breast
             breast ; myoepithelial cells   
             breast ductal cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See NUMA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NUMA1

    SOURCE GeneReport for Unigene cluster: Hs.325978
        SABiosciences Custom PCR Arrays for NUMA1
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NUMA1 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Numa11 , 5 nuclear mitotic apparatus protein 11, 5 83.51(n)1
    83.25(a)1
      7 (54.70 cM)5
    1017061  NM_133947.31  NP_598708.31 
     1019698435 
    chicken
    (Gallus gallus)
    Aves NUMA11 nuclear mitotic apparatus protein 1 64.48(n)
    56.52(a)
      768717  NM_001190925.1  NP_001177854.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    9(a)
    53(a)
    (see all 3)
    possible ortholog
    1 ↔ many
    (see all 3)
    6(51408195-51413860)
    GL343792.1(150888-166011)
    African clawed frog
    (Xenopus laevis)
    Amphibia NuMA2 nuclear/mitotic apparatus protein 74.13(n)    Y07624.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003325071 nuclear mitotic apparatus protein 1-like 46.18(n)
    33.12(a)
      100332507  XM_002666750.2  XP_002666796.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rootletin6
    CG138896
    (see all 3)
    --
    8(a)
    8(a)
    (see all 3)
    1 ↔ many
    possible ortholog
    (see all 3)
    3R(19939317-19953915)
    3L(843926-851080)
    worm
    (Caenorhabditis elegans)
    Secernentea F59A2.66
    eea-16
    Protein EEA-1, isoform b
    12(a)
    11(a)
    possible ortholog
    possible ortholog
    III(3415552-3424743)
    V(13491068-13497372)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes USO16
    Essential protein involved in the vesicle-mediated...
    9(a)
    1 → many
    IV(345665-351037)


    ENSEMBL Gene Tree for NUMA1 (if available)
    TreeFam Gene Tree for NUMA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NUMA1 gene
    3 SIMAP similar genes for NUMA1 using alignment to 22 protein entries:     NUMA1_HUMAN (see all proteins):
    NuMA    NUMA1 variant protein    IFT81

    NUMA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1622 SNPs in NUMA1 are shown (see all 1622)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs9493241,2
    C,F,A--71714526(-) CTGACG/CTCACC 1 -- ut31 ese315Minor allele frequency- C:0.09NA EU EA WA CSA 2855
    rs9493231,2
    C,F,A,H--71714528(-) TGCTGA/CCCTCA 1 -- ut31 ese330Minor allele frequency- T:0.00NA NS EA EU WA CSA 8948
    rs1995095691,2
    C--71714552(+) TGGGGA/CCACTC 1 -- ut310--------
    rs1927027831,2
    C--71714557(+) CCACTC/GACTGG 1 -- ut310--------
    rs1488256531,2
    C--71714559(+) ACTCAC/GTGGTA 1 -- ut310--------
    rs1838256161,2
    C--71714627(+) GCGATA/TCTAGC 1 -- int10--------
    rs2001526421,2
    --71714632(+) ACTAGC/TCTGCA 1 -- int10--------
    rs745468341,2
    C,F--71714654(+) GGAAGA/TTCTCT 1 -- int11Minor allele frequency- T:0.03EA 120
    rs57436811,2
    C,F,H--71714688(+) GATCCC/TCTCCC 1 -- int1 trp38Minor allele frequency- T:0.03NA EU NS EA WA 618
    rs57436831,2
    C,F,H--71714742(+) CTCTGG/AGTGCT 1 -- int110Minor allele frequency- A:0.04NA EU NS EA WA 634

    HapMap Linkage Disequilibrium report for NUMA1 (71713910 - 71791739 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NUMA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2494956CNV Deletion19546169
    nsv384CNV Insertion18451855
    nsv428262CNV Gain+Loss18775914

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 164009    OMIM disorders: --

    20 diseases for NUMA1:    About MalaCards
    acute promyelocytic leukemia    breast cancer susceptibility    seminoma    measles
    transitional cell carcinoma    kaposi's sarcoma    muscular dystrophy    colon cancer
    breast cancer    colorectal cancer    sarcoma    leukemia
    myeloid leukemia    esophagitis    arthritis    ovarian cancer
    thyroiditis    prostate cancer    prostatitis    neuronitis


    NUMA1 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for NUMA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glioma 12.1 1 11903063 (1)
    leukemia 1.6 1 9288109 (1)
    colon cancer 0.998 1 17575123 (1)
    necrosis 0 1 11455567 (1)
    shock 0 4 12944923 (1), 11453544 (1), 11449886 (1)
    inflammation 0 1 17397533 (1)
    breast cancer 0 7 15684076 (3), 12508117 (1), 11449886 (1), 10739661 (1)
    colorectal cancer 0 4 10470168 (4)
    tumors 0 1 10545425 (1)
    cancer 0 4 10629118 (1), 10470168 (1), 19804886 (1), 16146802 (1)

    Genetic Association Database (GAD): NUMA1
    Human Genome Epidemiology (HuGE) Navigator: NUMA1 (5 documents)

    Export disorders for NUMA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NUMA1 gene, integrated from 9 sources (see all 219):
    (articles sorted by number of sources associating them with NUMA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure and microtubule-interacting domain of the SP-H antigen: a mitotic map located at the spindle pole characterized as a homologous protein to NuMA. (PubMed id 8408288)1, 2, 9 Maekawa T. and Kuriyama R. (1993)
    2. Mutation of the predicted p34cdc2 phosphorylation sites in NuMA impair the assembly of the mitotic spindle and block mitosis. (PubMed id 7769006)1, 2, 9 Compton D.A. and Luo C. (1995)
    3. NuMA is a major acceptor of poly(ADP-ribosyl)ation by tankyrase 1 in mitosis. (PubMed id 16076287)1, 2, 9 Chang W....Smith S. (2005)
    4. Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules. (PubMed id 11956313)1, 2, 9 Haren L. and Merdes A. (2002)
    5. NuMA: an unusually long coiled-coil related protein in the mammalian nucleus. (PubMed id 1541630)1, 2, 9 Yang C.H.... Snyder M. (1992)
    6. Primary structure of NuMA, an intranuclear protein that defines a novel pathway for segregation of proteins at mitosis. (PubMed id 1541636)1, 2, 9 Compton D.A.... Cleveland D.W. (1992)
    7. Assignment of the nuclear mitotic apparatus protein NuMA gene to human chromosome 11q13. (PubMed id 8406455)1, 3, 9 Sparks C.A....Fey E.G. (1993)
    8. Nuclear proteins of the bovine esophageal epithelium. II. The NuMA gene gives rise to multiple mRNAs and gene products reactive with monoclonal antibody W1. (PubMed id 8505359)1, 2, 9 Tang T.K....Wu C.W. (1993)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    10. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4926 HGNC: 8059 AceView: NUMA1 Ensembl:ENSG00000137497 euGenes: HUgn4926
    ECgene: NUMA1 H-InvDB: NUMA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NUMA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NUMA1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NUMA1 gene:
    Search GeneIP for patents involving NUMA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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