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
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
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.
ModBase Predicted Comparative 3D Structure on Q14980
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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.