Human Gene NUMA1 (ENST00000393695.8) from GENCODE V44
Description: Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), transcript variant 1, mRNA. (from RefSeq NM_006185) 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]. Gencode Transcript: ENST00000393695.8 Gencode Gene: ENSG00000137497.19 Transcript (Including UTRs) Position: hg38 chr11:72,002,864-72,080,542 Size: 77,679 Total Exon Count: 27 Strand: - Coding Region Position: hg38 chr11:72,003,527-72,035,943 Size: 32,417 Coding Exon Count: 25
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";
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
Front
Top
Side
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.
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):