CENPH | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | CENPH , centromere protein H | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 605607 MGI: 1349448 HomoloGene: 32519 GeneCards: CENPH | ||||||||||||||||||||||||||||||||||||||||||||||||||
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CENP-H | |||||||||
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Identifiers | |||||||||
Symbol | CENP-H | ||||||||
Pfam | PF05837 | ||||||||
InterPro | IPR008426 | ||||||||
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Centromere protein H is a protein that in humans is encoded by the CENPH gene. [5] [6] [7] It is involved in the assembly of kinetochore proteins, mitotic progression and chromosome segregation. [8] [9]
Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. CENP-H is required for the localisation of CENP-C, but not CENP-A, to the centromere. However, it may be involved in the incorporation of newly synthesised CENP-A into centromeres via its interaction with the CENP-A/CENP-HI complex. [10] CENP-H localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [11] CENP-H contains a coiled-coil structure and a nuclear localisation signal. [11]
Studies show that CENP-H may be associated with certain human cancers. [12] [13]
CENP-H shows sequence similarity to the Schizosaccharomyces pombe kinetochore protein Fta3 which is a subunit of the Sim4 complex. This complex is required for loading the DASH complex onto the kinetochore via interaction with dad1. Fta2, Fta3 and Fta4 associate with the central core and inner repeat region of the centromere. [14]
CENPH has also been shown to interact with KIAA0090. [15] The significance of this interaction is unclear.
The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fibers attach to the centromere via the kinetochore.
A kinetochore is a disc-shaped protein structure associated with duplicated chromatids in eukaryotic cells where the spindle fibers attach during cell division to pull sister chromatids apart. The kinetochore assembles on the centromere and links the chromosome to microtubule polymers from the mitotic spindle during mitosis and meiosis. The term kinetochore was first used in a footnote in a 1934 Cytology book by Lester W. Sharp and commonly accepted in 1936. Sharp's footnote reads: "The convenient term kinetochore has been suggested to the author by J. A. Moore", likely referring to John Alexander Moore who had joined Columbia University as a freshman in 1932.
Aurora kinase B is a protein that functions in the attachment of the mitotic spindle to the centromere.
Centromere protein B also known as major centromere autoantigen B is an autoantigen protein of the cell nucleus. In humans, centromere protein B is encoded by the CENPB gene.
Mitotic checkpoint serine/threonine-protein kinase BUB1 also known as BUB1 is an enzyme that in humans is encoded by the BUB1 gene.
Mitotic checkpoint serine/threonine-protein kinase BUB1 beta is an enzyme that in humans is encoded by the BUB1B gene. Also known as BubR1, this protein is recognized for its mitotic roles in the spindle assembly checkpoint (SAC) and kinetochore-microtubule interactions that facilitate chromosome migration and alignment. BubR1 promotes mitotic fidelity and protects against aneuploidy by ensuring proper chromosome segregation between daughter cells. BubR1 is proposed to prevent tumorigenesis.
Centromere protein A, also known as CENPA, is a protein which in humans is encoded by the CENPA gene. CENPA is a histone H3 variant which is the critical factor determining the kinetochore position(s) on each chromosome in most eukaryotes including humans.
Centromere protein F is a protein that in humans is encoded by the CENPF gene. It is involved in chromosome segregation during cell division. It also has a role in the orientation of microtubules to form cellular cilia.
Centromere-associated protein E is a protein that in humans is encoded by the CENPE gene.
Centromere protein C 1 is a protein that in humans is encoded by the CENPC1 gene.
Centromere protein U is a protein that in humans is encoded by the CENPU gene.
Centromere protein I is a protein that in humans is encoded by the CENPI gene.
Centromere protein M also known as proliferation associated nuclear element 1 (PANE1) is a protein that in humans is encoded by the CENPM gene.
Kinetochore-associated protein NSL1 homolog is a protein that in humans is encoded by the NSL1 gene.
Protein MIS12 homolog is a protein that in humans is encoded by the MIS12 gene.
Centromere protein T is a protein that in humans is encoded by the CENPT gene.
Centromere protein O is a protein that in humans is encoded by the CENPO gene. CENPO is involved in cell proliferation and cell cycle progression and has been shown to be down-regulated in trisomic neurospheres a mouse model of Down Syndrome, resulting in reduced numbers of neural progenitors and neuroblasts and a severe reduction in numbers of neurons produced.
Centromere protein N is a protein that in humans is encoded by the CENPN gene.
Centromere protein K is a protein that in humans is encoded by the CENPK gene.
Centromere protein L is a protein that in humans is encoded by the CENPL gene.