CENPF

This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]

Full Name

Centromere Protein F

Function

Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the microtubule network though its association with STX4 and SNAP25. Acts as a potential inhibitor of pocket protein-mediated cellular processes during development by regulating the activity of RB proteins during cell division and proliferation. May play a regulatory or permissive role in the normal embryonic cardiomyocyte cell cycle and in promoting continued mitosis in transformed, abnormally dividing neonatal cardiomyocytes. Interaction with RB directs embryonic stem cells toward a cardiac lineage. Involved in the regulation of DNA synthesis and hence cell cycle progression, via its C-terminus. Has a potential role regulating skeletal myogenesis and in cell differentiation in embryogenesis. Involved in dendritic cell regulation of T-cell immunity against chlamydia.

Biological Process

Cell differentiation Source: UniProtKB-KW
Cell division Source: UniProtKB-KW
Chromosome segregation Source: UniProtKB
DNA biosynthetic process Source: UniProtKB-KW
Kidney development Source: GO_Central
Kinetochore assembly Source: UniProtKB
Metaphase plate congression Source: UniProtKB
Mitotic cell cycle Source: UniProtKB
Mitotic spindle assembly checkpoint Source: UniProtKB
Mitotic spindle organization Source: Reactome
Muscle organ development Source: UniProtKB-KW
Negative regulation of transcription, DNA-templated Source: UniProtKB
Protein transport Source: UniProtKB
Regulation of cell cycle Source: Reactome
Regulation of G2/M transition of mitotic cell cycle Source: UniProtKB
Regulation of striated muscle tissue development Source: UniProtKB
Response to drug Source: UniProtKB
Ventricular system development Source: GO_Central

Cellular Location

Spindle; Nucleus matrix; Perinuclear region; Kinetochore. Relocalizes to the kinetochore/centromere (coronal surface of the outer plate) and the spindle during mitosis. Observed in nucleus during interphase but not in the nucleolus. At metaphase becomes localized to areas including kinetochore and mitotic apparatus as well as cytoplasm. By telophase, is concentrated within the intracellular bridge at either side of the mid-body.

Involvement in disease

Stromme syndrome (STROMS): An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases.

PTM

Hyperphosphorylated during mitosis.