Description: Homo sapiens centromere protein N (CENPN), transcript variant 2, mRNA. RefSeq Summary (NM_001100624): The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. Transcript (Including UTRs) Position: hg19 chr16:81,040,103-81,065,090 Size: 24,988 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr16:81,045,545-81,062,256 Size: 16,712 Coding Exon Count: 10
ID:CENPN_HUMAN DESCRIPTION: RecName: Full=Centromere protein N; Short=CENP-N; AltName: Full=Interphase centromere complex protein 32; FUNCTION: Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPN is the first protein to bind specifically to CENPA nucleosomes and the direct binding of CENPA nucleosomes by CENPN is required for centromere assembly. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate. SUBUNIT: Component of the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and MLF1IP/CENPU. The CENPA-NAC complex interacts with the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. Interacts directly with CENPA. SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Localizes exclusively in the kinetochore domain of centromeres. Kinetochore-bound levels decrease when cells enter mitosis and increase again when cells exit mitosis.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CENPN CDC HuGE Published Literature: CENPN Positive Disease Associations: smoking cessation Related Studies:
smoking cessation Uhl ,et al. Pharmacogenomics 2010, Genome-wide association for smoking cessation success: participants in the Patch in Practice trial of nicotine replacement , Pharmacogenomics 2010 11- 3 : 357-67.
[PubMed 20235792]
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.
Pfam Domains: PF05238 - Kinetochore protein CHL4 like
ModBase Predicted Comparative 3D Structure on Q96H22
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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.
LF384466 - JP 2014500723-A/191969: Polycomb-Associated Non-Coding RNAs. AK023669 - Homo sapiens cDNA FLJ13607 fis, clone PLACE1010624, highly similar to Homo sapiens bone marrow protein BM039 (BM039), mRNA. LF384467 - JP 2014500723-A/191970: Polycomb-Associated Non-Coding RNAs. BC007334 - Homo sapiens centromere protein N, mRNA (cDNA clone MGC:15098 IMAGE:3830110), complete cds. JD219834 - Sequence 200858 from Patent EP1572962. JD494441 - Sequence 475465 from Patent EP1572962. JD426220 - Sequence 407244 from Patent EP1572962. JD036857 - Sequence 17881 from Patent EP1572962. AF217515 - Homo sapiens uncharacterized bone marrow protein BM039 mRNA, complete cds. JD074489 - Sequence 55513 from Patent EP1572962. JD426150 - Sequence 407174 from Patent EP1572962. JD520729 - Sequence 501753 from Patent EP1572962. BC008972 - Homo sapiens centromere protein N, mRNA (cDNA clone MGC:9498 IMAGE:3048151), complete cds. AK296024 - Homo sapiens cDNA FLJ54933 complete cds, highly similar to Homo sapiens bone marrow protein BM039 (BM039), mRNA. AK026313 - Homo sapiens cDNA: FLJ22660 fis, clone HSI07975, highly similar to AF217515 Homo sapiens uncharacterized bone marrow protein BM039 mRNA. AK298554 - Homo sapiens cDNA FLJ60781 complete cds, highly similar to Homo sapiens bone marrow protein BM039 (BM039), mRNA. KJ906245 - Synthetic construct Homo sapiens clone ccsbBroadEn_15915 CENPN gene, encodes complete protein. CU679205 - Synthetic construct Homo sapiens gateway clone IMAGE:100019001 5' read CENPN mRNA. LF374819 - JP 2014500723-A/182322: Polycomb-Associated Non-Coding RNAs. LF374820 - JP 2014500723-A/182323: Polycomb-Associated Non-Coding RNAs. LF374821 - JP 2014500723-A/182324: Polycomb-Associated Non-Coding RNAs. LF374822 - JP 2014500723-A/182325: Polycomb-Associated Non-Coding RNAs. LF374824 - JP 2014500723-A/182327: Polycomb-Associated Non-Coding RNAs. LF374825 - JP 2014500723-A/182328: Polycomb-Associated Non-Coding RNAs. JD311957 - Sequence 292981 from Patent EP1572962. JD346443 - Sequence 327467 from Patent EP1572962. JD311713 - Sequence 292737 from Patent EP1572962. JD252526 - Sequence 233550 from Patent EP1572962. JD388732 - Sequence 369756 from Patent EP1572962. JD119181 - Sequence 100205 from Patent EP1572962. JD135016 - Sequence 116040 from Patent EP1572962. JD425926 - Sequence 406950 from Patent EP1572962. JD525596 - Sequence 506620 from Patent EP1572962. BC039021 - Homo sapiens cDNA clone IMAGE:6043059, partial cds. JD492640 - Sequence 473664 from Patent EP1572962. JD441380 - Sequence 422404 from Patent EP1572962. JD319235 - Sequence 300259 from Patent EP1572962. JD430389 - Sequence 411413 from Patent EP1572962. JD529561 - Sequence 510585 from Patent EP1572962. MA620043 - JP 2018138019-A/191969: Polycomb-Associated Non-Coding RNAs. MA620044 - JP 2018138019-A/191970: Polycomb-Associated Non-Coding RNAs. MA610396 - JP 2018138019-A/182322: Polycomb-Associated Non-Coding RNAs. MA610397 - JP 2018138019-A/182323: Polycomb-Associated Non-Coding RNAs. MA610398 - JP 2018138019-A/182324: Polycomb-Associated Non-Coding RNAs. MA610399 - JP 2018138019-A/182325: Polycomb-Associated Non-Coding RNAs. MA610401 - JP 2018138019-A/182327: Polycomb-Associated Non-Coding RNAs. MA610402 - JP 2018138019-A/182328: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q96H22 (Reactome details) participates in the following event(s):
R-HSA-141409 Mad1 binds kinetochore R-HSA-375302 Kinetochore capture of astral microtubules R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2 R-HSA-606349 Mis18 complex binds the centromere R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex R-HSA-141439 Release of activated MAD2 from kinetochores R-HSA-2467811 Separation of sister chromatids R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores R-HSA-606326 HJURP:CENPA complex localizes to the centromere R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1 R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal R-HSA-68877 Mitotic Prometaphase R-HSA-5663220 RHO GTPases Activate Formins R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere R-HSA-2500257 Resolution of Sister Chromatid Cohesion R-HSA-2467813 Separation of Sister Chromatids R-HSA-141424 Amplification of signal from the kinetochores R-HSA-68886 M Phase R-HSA-195258 RHO GTPase Effectors R-HSA-774815 Nucleosome assembly R-HSA-68882 Mitotic Anaphase R-HSA-69618 Mitotic Spindle Checkpoint R-HSA-69278 Cell Cycle (Mitotic) R-HSA-194315 Signaling by Rho GTPases R-HSA-73886 Chromosome Maintenance R-HSA-2555396 Mitotic Metaphase and Anaphase R-HSA-69620 Cell Cycle Checkpoints R-HSA-1640170 Cell Cycle R-HSA-162582 Signal Transduction
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