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Aliases for NUMA1 Gene

Aliases for NUMA1 Gene

  • Nuclear Mitotic Apparatus Protein 1 2 3 5
  • Nuclear Matrix Protein-22 3 4
  • SP-H Antigen 3 4
  • NMP-22 3 4
  • NUMA 3 4
  • Centrophilin Stabilizes Mitotic Spindle In Mitotic Cells 3
  • Structural Nuclear Protein 3
  • NuMA Protein 4
  • NMP22 4

External Ids for NUMA1 Gene

Previous GeneCards Identifiers for NUMA1 Gene

  • GC11M074046
  • GC11M073253
  • GC11M071936
  • GC11M071440
  • GC11M071391
  • GC11M071713
  • GC11M068007

Summaries for NUMA1 Gene

Entrez Gene Summary for NUMA1 Gene

  • 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]

GeneCards Summary for NUMA1 Gene

NUMA1 (Nuclear Mitotic Apparatus Protein 1) is a Protein Coding gene. Diseases associated with NUMA1 include leukemia, acute promyelocytic, somatic and acute promyelocytic leukemia numa/rara type. Among its related pathways are Cell Cycle, Mitotic and Apoptosis and survival Caspase cascade. GO annotations related to this gene include nucleotide binding and microtubule binding.

UniProtKB/Swiss-Prot for NUMA1 Gene

  • Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority if the nuclear volume (PubMed:10075938). Required for maintenance and establishment of the mitotic spindle poles during symmetric cell divisions, functioning as a tether linking bulk microtubules of the spindle to centrosomes (PubMed:7769006, PubMed:11956313, PubMed:26195665). Also required for proper alignment of the mitotic spindle during asymmetric cell divisions (PubMed:21816348).

Gene Wiki entry for NUMA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUMA1 Gene

Genomics for NUMA1 Gene

Regulatory Elements for NUMA1 Gene

Promoters for NUMA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NUMA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NUMA1 Gene

Chromosome:
11
Start:
72,002,864 bp from pter
End:
72,080,693 bp from pter
Size:
77,830 bases
Orientation:
Minus strand

Genomic View for NUMA1 Gene

Genes around NUMA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUMA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUMA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUMA1 Gene

Proteins for NUMA1 Gene

  • Protein details for NUMA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14980-NUMA1_HUMAN
    Recommended name:
    Nuclear mitotic apparatus protein 1
    Protein Accession:
    Q14980
    Secondary Accessions:
    • H0YH75
    • Q14981
    • Q9BTE9

    Protein attributes for NUMA1 Gene

    Size:
    2115 amino acids
    Molecular mass:
    238260 Da
    Quaternary structure:
    • Homodimer. Also forms multiarm oligomers by association of C-terminal tail domains, oligomers may further assemble to form a hexagonal nuclear lattice-like network (PubMed:10075938). Interacts with tubulin and microtubules (PubMed:11956313). Interacts with TNKS (PubMed:16076287). Interacts with GPSM2 (via TPR repeats) (PubMed:21816348). Interacts with FAM175B and the BRISC complex (PubMed:26195665).
    Miscellaneous:
    • Also known as nuclear matrix protein-22/NMP-22/NMP22, an antigen used in diagnostic tests of bladder cancer.
    SequenceCaution:
    • Sequence=CAA77670.1; Type=Frameshift; Positions=1270, 1299; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NUMA1 Gene

    Alternative splice isoforms for NUMA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUMA1 Gene

Proteomics data for NUMA1 Gene at MOPED

Post-translational modifications for NUMA1 Gene

  • ADP-ribosylated by TNKS during mitosis.
  • O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status.
  • 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.
  • Ubiquitinated with Lys-63-linked polyubiquitin chains. Deubiquitination by the BRISC complex is important for the incorporation of NUMA1 into mitotic spindle poles and normal spindle pole function, probably by modulating interactions between NUMA1, dynein and importin-beta.
  • Ubiquitination at Lys 54, Lys 326, Lys 358, Lys 364, Lys 386, Lys 604, Lys 616, Lys 855, Lys 891, Lys 908, Lys 1330, Lys 1335, Lys 1430, Lys 1475, Lys 1511, Lys 1573, Lys 1699, Lys 1708, and Lys 1821
  • Glycosylation at Ser 1844
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NUMA1 (NuMA-1)

No data available for DME Specific Peptides for NUMA1 Gene

Domains & Families for NUMA1 Gene

Protein Domains for NUMA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NUMA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14980

UniProtKB/Swiss-Prot:

NUMA1_HUMAN :
  • The C-terminal tubulin-binding domain mediates direct binding to microtubules, independantly of dynein and dynactin, and induces their bundling and stabilization.
Domain:
  • The C-terminal tubulin-binding domain mediates direct binding to microtubules, independantly of dynein and dynactin, and induces their bundling and stabilization.
genes like me logo Genes that share domains with NUMA1: view

No data available for Gene Families for NUMA1 Gene

Function for NUMA1 Gene

Molecular function for NUMA1 Gene

GENATLAS Biochemistry:
nuclear mitotic apparatus protein
UniProtKB/Swiss-Prot Function:
Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority if the nuclear volume (PubMed:10075938). Required for maintenance and establishment of the mitotic spindle poles during symmetric cell divisions, functioning as a tether linking bulk microtubules of the spindle to centrosomes (PubMed:7769006, PubMed:11956313, PubMed:26195665). Also required for proper alignment of the mitotic spindle during asymmetric cell divisions (PubMed:21816348).
genes like me logo Genes that share phenotypes with NUMA1: view

Human Phenotype Ontology for NUMA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NUMA1 Gene

MGI Knock Outs for NUMA1:

Animal Model Products

CRISPR Products

miRNA for NUMA1 Gene

miRTarBase miRNAs that target NUMA1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for NUMA1 Gene

Localization for NUMA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUMA1 Gene

Nucleus matrix. Chromosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Resides in the nuclear matrix during interphase. Dissociates from condensing chromosomes during early prophase and relocates to the spindle poles via dynein/dynamin association; it remains there until the anaphase onset. As mitosis progresses it reassociates with telophase chromosomes very early during nuclear reformation, before substantial accumulation of lamins on chromosomal surfaces is evident. CCSAP is essential for its centrosomal localization (PubMed:26562023). {ECO:0000269 PubMed:1541630, ECO:0000269 PubMed:1541636, ECO:0000269 PubMed:26562023}.
Isoform Numa-m: Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=During interphase, mainly clustered at the centrosomal region in the cytosol. After entry into mitosis, detected at mitotic spindle poles. {ECO:0000269 PubMed:7962183}.
Isoform Numa-s: Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=During interphase, mainly clustered at the centrosomal region in the cytosol. After entry into mitosis, detected at mitotic spindle poles. {ECO:0000269 PubMed:7962183}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NUMA1 Gene COMPARTMENTS Subcellular localization image for NUMA1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
golgi apparatus 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for NUMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IDA 1541636
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005819 spindle TAS 7004645
genes like me logo Genes that share ontologies with NUMA1: view

Pathways & Interactions for NUMA1 Gene

genes like me logo Genes that share pathways with NUMA1: view

SIGNOR curated interactions for NUMA1 Gene

Gene Ontology (GO) - Biological Process for NUMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with NUMA1: view

Drugs & Compounds for NUMA1 Gene

(4) Drugs for NUMA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for NUMA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NUMA1: view

Transcripts for NUMA1 Gene

Unigene Clusters for NUMA1 Gene

Nuclear mitotic apparatus protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NUMA1 Gene

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: - - - - - - - - - -
SP6: - -
SP7:
SP8:
SP9:
SP10: - - - - -
SP11: - - - - - - - - - - -
SP12: - - - - - - - - -
SP13:
SP14: - - - - -
SP15: -
SP16:

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:
SP6:
SP7:
SP8: - - -
SP9: -
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:

Relevant External Links for NUMA1 Gene

GeneLoc Exon Structure for
NUMA1
ECgene alternative splicing isoforms for
NUMA1

Expression for NUMA1 Gene

mRNA expression in normal human tissues for NUMA1 Gene

Protein differential expression in normal tissues from HIPED for NUMA1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.1), Lymph node (7.9), and Nasal epithelium (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NUMA1 Gene



SOURCE GeneReport for Unigene cluster for NUMA1 Gene Hs.325978

genes like me logo Genes that share expression patterns with NUMA1: view

Protein tissue co-expression partners for NUMA1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NUMA1 Gene

Orthologs for NUMA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NUMA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NUMA1 35
  • 86.18 (n)
  • 86.18 (a)
NUMA1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NUMA1 35
  • 87.52 (n)
  • 88.78 (a)
NUMA1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Numa1 35
  • 83.33 (n)
  • 82.97 (a)
Numa1 16
Numa1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NUMA1 35
  • 99.53 (n)
  • 99.24 (a)
NUMA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Numa1 35
  • 82.84 (n)
  • 82.31 (a)
oppossum
(Monodelphis domestica)
Mammalia NUMA1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUMA1 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUMA1 35
  • 64.68 (n)
  • 56.89 (a)
NUMA1 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 50 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100145664 35
  • 53.14 (n)
  • 44.16 (a)
African clawed frog
(Xenopus laevis)
Amphibia NuMA 35
zebrafish
(Danio rerio)
Actinopterygii numa1 36
  • 29 (a)
OneToMany
NUMA1 (2 of 4) 36
  • 31 (a)
OneToMany
NUMA1 (3 of 4) 36
  • 32 (a)
OneToMany
NUMA1 (4 of 4) 36
  • 35 (a)
OneToMany
Species with no ortholog for NUMA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NUMA1 Gene

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

Paralogs for NUMA1 Gene

genes like me logo Genes that share paralogs with NUMA1: view

No data available for Paralogs for NUMA1 Gene

Variants for NUMA1 Gene

Sequence variations from dbSNP and Humsavar for NUMA1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_031679 -
VAR_031680 -
VAR_031681 -
rs7949430 - 72,006,254(+) TTCCA(C/T)ATCTA nc-transcript-variant, reference, missense
rs35586429 - 72,006,221(+) GCTGT(A/G)GAACG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NUMA1 Gene

Variant ID Type Subtype PubMed ID
nsv428262 CNV Gain+Loss 18775914
esv2494956 CNV Deletion 19546169
nsv384 CNV Insertion 18451855

Variation tolerance for NUMA1 Gene

Residual Variation Intolerance Score: 89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.30; 76.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NUMA1 Gene

HapMap Linkage Disequilibrium report
NUMA1
Human Gene Mutation Database (HGMD)
NUMA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUMA1 Gene

Disorders for NUMA1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NUMA1 Gene - From: OMIM, GeneTests, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
leukemia, acute promyelocytic, somatic
  • leukemia, acute promyelocytic
acute promyelocytic leukemia numa/rara type
  • leukemia, acute promyelocytic, numa/rara type
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association - COSMIC cancer census association via MalaCards
Search NUMA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NUMA1

Genetic Association Database (GAD)
NUMA1
Human Genome Epidemiology (HuGE) Navigator
NUMA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NUMA1
genes like me logo Genes that share disorders with NUMA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NUMA1 Gene

Publications for NUMA1 Gene

  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. (PMID: 8408288) Maekawa T. … Kuriyama R. (J. Cell Sci. 1993) 3 4 23 67
  2. Assignment of the nuclear mitotic apparatus protein NuMA gene to human chromosome 11q13. (PMID: 8406455) Sparks C.A. … Fey E.G. (Genomics 1993) 2 3 23
  3. Inhibiting Crm1 causes the formation of excess acentriolar spindle poles containing NuMA and B23, but does not affect centrosome numbers. (PMID: 19522705) Rousselet A. (Biol. Cell 2009) 3 23
  4. Interaction between Poly(ADP-ribose) and NuMA contributes to mitotic spindle pole assembly. (PMID: 19759176) Chang P. … Mitchison T.J. (Mol. Biol. Cell 2009) 3 23
  5. Apoptotic cleavage of NuMA at the C-terminal end is related to nuclear disruption and death amplification. (PMID: 17401638) Lin H.H. … Yeh N.H. (J. Biomed. Sci. 2007) 3 23

Products for NUMA1 Gene

Sources for NUMA1 Gene

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