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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
  • Nuclear Mitotic Apparatus Protein 4
  • 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 Acute Promyelocytic Leukemia and Pyuria. Among its related pathways are Ectoderm Differentiation and Apoptosis and survival Caspase cascade. Gene Ontology (GO) annotations related to this gene include nucleotide binding and microtubule binding.

UniProtKB/Swiss-Prot for NUMA1 Gene

  • Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division (PubMed:7769006, PubMed:17172455, PubMed:19255246, PubMed:24996901, PubMed:26195665, PubMed:27462074). Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles (PubMed:12445386, PubMed:11956313). Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901, PubMed:26765568). In metaphase, part of a ternary complex composed of GPSM2 and G(i) alpha proteins, that regulates the recruitment and anchorage of the dynein-dynactin complex in the mitotic cell cortex regions situated above the two spindle poles, and hence regulates the correct oritentation of the mitotic spindle (PubMed:23027904, PubMed:22327364, PubMed:23921553). During anaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical region through direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulation of the spindle elongation and chromosome segregation (PubMed:22327364, PubMed:23921553, PubMed:24996901, PubMed:24371089). Binds also to other polyanionic phosphoinositides, such as phosphatidylinositol 3-phosphate (PIP), lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate (PIP3), in vitro (PubMed:24996901, PubMed:24371089). Also required for proper orientation of the mitotic spindle during asymmetric cell divisions (PubMed:21816348). Plays a role in mitotic MT aster assembly (PubMed:11163243, PubMed:11229403, PubMed:12445386). Involved in anastral spindle assembly (PubMed:25657325). Positively regulates TNKS protein localization to spindle poles in mitosis (PubMed:16076287). Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority of the nuclear volume (PubMed:10075938). Required for epidermal differentiation and hair follicle morphogenesis (By similarity).

Gene Wiki entry for NUMA1 Gene

Additional gene information for NUMA1 Gene

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

Genomics for NUMA1 Gene

GeneHancer (GH) Regulatory Elements for NUMA1 Gene

Promoters and enhancers for NUMA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I072077 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 563.1 -0.2 -166 5.9 HDGF PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 NUMA1 LRTOMT FAM86C1 IL18BP NADSYN1 LOC100128494 OR7E128P LAMTOR1
GH11I072068 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 550.4 +9.9 9862 6.1 RAD21 ZBTB40 RFX5 YY1 ZNF766 EGR1 SCRT2 RCOR1 FOS IKZF2 MIR3165 NUMA1 FAM86C1 IL18BP LRTOMT GC11M072049
GH11I072430 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 133.8 -352.2 -352234 4.7 ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 ZC3H11A ZNF610 ZNF585B CLPB NUMA1 LOC100128494 ZNF705E RNF121 IL18BP NADSYN1 ENSG00000248671 ARHGEF17 FAM86C1
GH11I071927 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 60.2 +150.9 150859 5.5 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 RNF121 LOC100133315 NUMA1 LOC100128494 NADSYN1 ZNF705E IL18BP FAM86C1 ENSG00000255843 LRTOMT
GH11I071446 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 27.1 +629.6 629637 8.5 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 NADSYN1 DHCR7 ENSG00000254682 NUMA1 LOC100128494 ZNF705E IL18BP ENSG00000248671
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NUMA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NUMA1 gene promoter:

Genomic Locations for NUMA1 Gene

Genomic Locations for NUMA1 Gene
chr11:72,002,864-72,080,693
(GRCh38/hg38)
Size:
77,830 bases
Orientation:
Minus strand
chr11:71,713,910-71,791,739
(GRCh37/hg19)

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 (PubMed:10075938). 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). Associates with the dynein-dynactin complex; this association promotes the transport and accumulation of NUMA1 at the mitotic spindle poles that is inhibited by the BRISC complex in a PLK1-dependent manner (PubMed:10811826, PubMed:17172455, PubMed:23027904, PubMed:22327364, PubMed:26195665). Part of a spindle orientation complex at least composed of GNAI1, GPSM2 and NUMA1 (PubMed:26766442). Interacts (via C-terminus) with microtubules (MTs); this interaction is direct and promotes both MT bundle formation and stability in a dynein-dynactin complex- and CDK1-independent manner (PubMed:12445386, PubMed:11956313, PubMed:26765568). Interacts with EPB41 and EPB41L2; these interactions are negatively regulated by CDK1 during metaphase and are important for anaphase-specific localization of NUMA1 in symmetrically dividing cells (PubMed:23870127, PubMed:24996901). Interacts (via C-terminus) with GPSM2 (via TPR repeats); this interaction is direct, prevented by competitive binding of INSC, is inhibited in a PLK1-dependent manner, blocks the association of NUMA1 with MTs and inhibits NUMA1-induced MT bundle formation, prevents the association of NUMA1 with SPAG5, induces mitotic spindle pole localization of GPSM2, both metaphase cell cortex localization of NUMA1 and mitotic spindle organization (PubMed:11781568, PubMed:12445386, PubMed:22327364, PubMed:24109598, PubMed:27462074, PubMed:21816348). Does not interact with GPSM2 during anaphase (PubMed:23870127). Interacts (via C-terminus) with the nuclear importin alpha/importin beta receptor; this interaction is inhibited by RanGTP (PubMed:11163243). Interacts (via C-terminus) with KPNB1; this interaction is inhibited by RanGTP and the BRISC complex (PubMed:11229403, PubMed:26195665). Interacts with ABRAXAS2 and the BRISC complex; these interactions regulate mitotic spindle assembly (PubMed:26195665). Interacts (via N-terminal end of the coiled-coil domain) with RAE1; this interaction promotes mitotic spindle formation (PubMed:17172455). Interacts (via C-terminus) with SPAG5 (via C-terminus); this interaction promotes the recruitment of SPAG5 to the MTs at spindle poles in a dynein-dynactin-dependent manner and regulates mitotic spindle organization and proper chromosome alignment during mitosis (PubMed:27462074). Interacts with TNKS; this interaction occurs at the onset of mitosis (PubMed:12080061, PubMed:16076287). Interacts with TNKS2 (PubMed:12080061). Interacts with tubulin (PubMed:11956313).
    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

Post-translational modifications for NUMA1 Gene

  • ADP-ribosylated by TNKS at the onset of mitosis; ADP-ribosylation is not required for its localization to spindle poles (PubMed:16076287).
  • O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status (PubMed:20068230).
  • Phosphorylation and dephosphorylation on Thr-2055 regulates the extent of cortical NUMA1 and the dynein-dynactin complex localization during mitotic metaphase and anaphase (PubMed:23921553). In metaphase, phosphorylation on Thr-2055 occurs in a kinase CDK1-dependent manner; this phosphorylation maintains low levels of cortical dynein-dynactin complex at metaphase, and hence proper spindle positioning (PubMed:7769006, PubMed:23921553, PubMed:24371089). In anaphase, dephosphorylated on Thr-2055 by phosphatase PPP2CA; this dephosphorylation stimulates its membrane association and with the dynein-dynactin complex its enrichment at the cell cortex, and hence robust spindle elongation (PubMed:23921553, PubMed:24371089). Probably also phosphorylated on Thr-2015 and Ser-2087 by CDK1; these phosphorylations may regulate its cell cortex recruitment during metaphase and anaphase (PubMed:23870127). Phosphorylated on Thr-1047, Ser-1769, Ser-1772, Ser-1789 and Ser-1834 by PLK1; these phosphorylations induce cortical dynein-dynactin complex dissociation from the NUMA1-GPSM2 complex and negatively regulates cortical dynein-dynactin complex localization (PubMed:22327364).
  • 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-dynactin complex and importin-beta.
  • Ubiquitination at Lys54, isoforms=2, 5, 3, 4326, Lys358, isoforms=2, 5, 3, 4364, Lys386, isoforms=2, 3, 4604, Lys616, isoforms=2, 3, 4855, isoforms=2, 3, 4891, Lys908, isoforms=2, 3, 41330, Lys1335, isoforms=2, 3, 41430, Lys1475, Lys1511, Lys1573, Lys1699, isoforms=2, 5, 3, 41708, and isoforms=2, 51821
  • Glycosylation at Ser1844
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for NUMA1

No data available for DME Specific Peptides for NUMA1 Gene

Domains & Families for NUMA1 Gene

Gene Families for NUMA1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

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, independently of dynein-dynactin complex, and induces their bundling and stabilization (PubMed:11956313). The 4.1-binding domain is necessary for its cortical stability and spindle orientation (PubMed:24109598).
Domain:
  • The C-terminal tubulin-binding domain mediates direct binding to microtubules, independently of dynein-dynactin complex, and induces their bundling and stabilization (PubMed:11956313). The 4.1-binding domain is necessary for its cortical stability and spindle orientation (PubMed:24109598).
genes like me logo Genes that share domains with NUMA1: view

Function for NUMA1 Gene

Molecular function for NUMA1 Gene

GENATLAS Biochemistry:
nuclear mitotic apparatus protein
UniProtKB/Swiss-Prot Function:
Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division (PubMed:7769006, PubMed:17172455, PubMed:19255246, PubMed:24996901, PubMed:26195665, PubMed:27462074). Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles (PubMed:12445386, PubMed:11956313). Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901, PubMed:26765568). In metaphase, part of a ternary complex composed of GPSM2 and G(i) alpha proteins, that regulates the recruitment and anchorage of the dynein-dynactin complex in the mitotic cell cortex regions situated above the two spindle poles, and hence regulates the correct oritentation of the mitotic spindle (PubMed:23027904, PubMed:22327364, PubMed:23921553). During anaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical region through direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulation of the spindle elongation and chromosome segregation (PubMed:22327364, PubMed:23921553, PubMed:24996901, PubMed:24371089). Binds also to other polyanionic phosphoinositides, such as phosphatidylinositol 3-phosphate (PIP), lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate (PIP3), in vitro (PubMed:24996901, PubMed:24371089). Also required for proper orientation of the mitotic spindle during asymmetric cell divisions (PubMed:21816348). Plays a role in mitotic MT aster assembly (PubMed:11163243, PubMed:11229403, PubMed:12445386). Involved in anastral spindle assembly (PubMed:25657325). Positively regulates TNKS protein localization to spindle poles in mitosis (PubMed:16076287). Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority of the nuclear volume (PubMed:10075938). Required for epidermal differentiation and hair follicle morphogenesis (By similarity).

Phenotypes From GWAS Catalog for NUMA1 Gene

Gene Ontology (GO) - Molecular Function for NUMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 1541630
GO:0005515 protein binding IPI 11590136
GO:0008017 microtubule binding IDA 11956313
GO:0008022 protein C-terminus binding IMP 20109190
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with NUMA1: view
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

Clone Products

  • Addgene plasmids for NUMA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NUMA1 Gene

Localization for NUMA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUMA1 Gene

Nucleus. Nucleus, nucleoplasm. Nucleus matrix. Chromosome. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cell cortex. Cell membrane; Lipid-anchor; Cytoplasmic side. Lateral cell membrane. Note=Mitotic cell cycle-dependent shuttling protein that relocalizes from the interphase nucleus to the spindle poles and cell cortex (PubMed:1541636, PubMed:10811826). In interphase, resides in the nuclear matrix (PubMed:1541630, PubMed:1541636, PubMed:23921553). In prophase, restricted to the interchromatin or condensed chromosome space (PubMed:10811826). In prometaphase, after nuclear envelope disassembly, forms aggregates both in the spindle midzone and at duplicated centrosomes and astral microtubules (MTs) of the bipolar spindle apparatus (PubMed:10811826). Translocates from the spindle midzone towards the spindle poles along spindle fibers in a MT- and dynein-dynactin-dependent manner until the anaphase onset (PubMed:1541636, PubMed:10811826). In metaphase, recruited to the polar cortical region in a GPSM2- and GNAI1-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901). Excluded from the metaphase equatorial cortical region in a RanGTP-dependent manner (PubMed:22327364, PubMed:23870127). Phosphorylation on Thr-2055 by CDK1 results in its localization at spindle poles in metaphase, but not at the cell cortex (PubMed:23921553). In anaphase, recruited and anchored at the cell membrane of the polar cortical region in a EPB41-, EPB41L2-, phosphatidylinositol-dependent and GPSM2- and G(i) alpha proteins-independent manner (PubMed:23870127, PubMed:24996901, PubMed:24109598, PubMed:24371089). Excluded from the anaphase equatorial region of the cell cortex in a RACGAP1- and KIF23-dependent and RanGTP-independent manner (PubMed:24996901). Associated with astral MTs emanating from the spindle poles during anaphase (PubMed:12445386, PubMed:24996901). Nonphosphorylated Thr-2055 localizes at the cell cortex, weakly during metaphase and more prominently during anaphase in a phosphatase PPP2CA-dependent manner (PubMed:23921553). As mitosis progresses it reassociates with telophase chromosomes very early during nuclear reformation, before substantial accumulation of lamins on chromosomal surfaces is evident (PubMed:1541636). Localizes to the tips of cortical MTs in prometaphase (PubMed:26765568). Localizes along MTs and specifically to both MT plus and minus ends (PubMed:26765568). Accumulates also at MT tips near the cell periphery (PubMed:26765568). Colocalizes with GPSM2 at mitotic spindle poles during mitosis (PubMed:11781568, PubMed:21816348). Colocalizes with SPAG5 at mitotic spindle at prometaphase and at mitotic spindle poles at metaphase and anaphase (PubMed:27462074). Colocalizes with ABRO1 at mitotic spindle poles (PubMed:26195665). Colocalized with TNKS from prophase through to anaphase in mitosis (PubMed:16076287). Colocalizes with tubulin alpha (PubMed:12445386). CCSAP is essential for its centrosomal localization (PubMed:26562023). In horizontally retinal progenitor dividing cells, localized to the lateral cortical region (By similarity). {ECO:0000250 UniProtKB:E9Q7G0, ECO:0000269 PubMed:10811826, ECO:0000269 PubMed:11781568, ECO:0000269 PubMed:12445386, ECO:0000269 PubMed:1541630, ECO:0000269 PubMed:1541636, ECO:0000269 PubMed:16076287, ECO:0000269 PubMed:21816348, ECO:0000269 PubMed:22327364, ECO:0000269 PubMed:23870127, ECO:0000269 PubMed:23921553, ECO:0000269 PubMed:24109598, ECO:0000269 PubMed:24371089, ECO:0000269 PubMed:24996901, ECO:0000269 PubMed:26195665, ECO:0000269 PubMed:26562023, ECO:0000269 PubMed:26765568, ECO:0000269 PubMed:27462074}.
Isoform 3: 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 4: 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUMA1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NUMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0000922 spindle pole IEA,IDA 14718566
GO:0005634 nucleus IDA,IEA 1541636
GO:0005654 nucleoplasm TAS,IDA --
GO:0005694 chromosome IEA --
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

Pathways by source for NUMA1 Gene

2 Qiagen pathways for NUMA1 Gene
1 Cell Signaling Technology pathway for NUMA1 Gene

SIGNOR curated interactions for NUMA1 Gene

Gene Ontology (GO) - Biological Process for NUMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation ISS --
GO:0001578 microtubule bundle formation IMP 12445386
GO:0006997 nucleus organization TAS 1541630
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
genes like me logo Genes that share ontologies with NUMA1: view

Drugs & Compounds for NUMA1 Gene

(5) Drugs for NUMA1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium channel blockers Pharma 2095

(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:

Clone Products

  • Addgene plasmids for NUMA1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NUMA1 Gene



Protein tissue co-expression partners for NUMA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUMA1 Gene:

NUMA1

SOURCE GeneReport for Unigene cluster for NUMA1 Gene:

Hs.325978

Evidence on tissue expression from TISSUES for NUMA1 Gene

  • Adrenal gland(5)
  • Intestine(5)
  • Liver(5)
  • Pancreas(5)
  • Lung(4.7)
  • Blood(4.5)
  • Nervous system(4.5)
  • Eye(4.1)
  • Heart(3.5)
  • Urine(2.9)
  • Skin(2.7)
  • Kidney(2.4)
  • Muscle(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NUMA1 Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Regions:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with NUMA1: view

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
chimpanzee
(Pan troglodytes)
Mammalia NUMA1 33 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia NUMA1 33 34
  • 87.52 (n)
cow
(Bos Taurus)
Mammalia NUMA1 33 34
  • 86.18 (n)
mouse
(Mus musculus)
Mammalia Numa1 33 16 34
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Numa1 33
  • 82.84 (n)
oppossum
(Monodelphis domestica)
Mammalia NUMA1 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NUMA1 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUMA1 33 34
  • 64.68 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 52 (a)
OneToMany
-- 34
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100145664 33
  • 53.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia NuMA 33
zebrafish
(Danio rerio)
Actinopterygii NUMA1 (4 of 4) 34
  • 35 (a)
OneToMany
NUMA1 (3 of 4) 34
  • 32 (a)
OneToMany
NUMA1 (2 of 4) 34
  • 31 (a)
OneToMany
numa1 34
  • 29 (a)
OneToMany
Species where no ortholog for NUMA1 was found in the sources mined by GeneCards:
  • 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

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 Variation AA Info Type
rs1025292179 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,080,863(-) G/A upstream_transcript_variant
rs1025400026 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,080,653(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs111537544 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,080,605(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs114912925 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,080,464(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs185830107 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 72,080,445(-) C/A genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2494956 CNV deletion 19546169
nsv384 CNV insertion 18451855
nsv428262 CNV gain+loss 18775914
nsv951037 CNV deletion 24416366

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)

Additional Variant Information for NUMA1 Gene

Human Gene Mutation Database (HGMD)
NUMA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUMA1

SNP Genotyping and Copy Number Assay Products

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

Disorders for NUMA1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for NUMA1 Gene - From: HGMD, OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acute promyelocytic leukemia
  • apl
pyuria
  • pus cells in urine
visual agnosia
  • primary visual agnosia
pulmonary aspergilloma
xanthogranulomatous pyelonephritis
  • pyelonephritis, xanthogranulomatous
- elite association - COSMIC cancer census association via MalaCards
Search NUMA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NUMA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Rae1 interaction with NuMA is required for bipolar spindle formation. (PMID: 17172455) Wong RW … Coutavas E (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 58
  2. NuMA is a major acceptor of poly(ADP-ribosyl)ation by tankyrase 1 in mitosis. (PMID: 16076287) Chang W … Smith S (The Biochemical journal 2005) 3 4 22 58
  3. Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules. (PMID: 11956313) Haren L … Merdes A (Journal of cell science 2002) 3 4 22 58
  4. Identification of a tankyrase-binding motif shared by IRAP, TAB182, and human TRF1 but not mouse TRF1. NuMA contains this RXXPDG motif and is a novel tankyrase partner. (PMID: 12080061) Sbodio JI … Chi NW (The Journal of biological chemistry 2002) 3 4 22 58
  5. LGN blocks the ability of NuMA to bind and stabilize microtubules. A mechanism for mitotic spindle assembly regulation. (PMID: 12445386) Du Q … Macara IG (Current biology : CB 2002) 3 4 22 58

Products for NUMA1 Gene

  • Addgene plasmids for NUMA1