Elongin C is a protein that in humans is encoded by the ELOC gene. [5] [6]
Elongin C is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [7]
TCEB1 has been shown to interact with:
Von Hippel–Lindau disease (VHL), also known as VonHippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.
Hemangioblastomas, or haemangioblastomas, are vascular tumors of the central nervous system that originate from the vascular system, usually during middle age. Sometimes, these tumors occur in other sites such as the spinal cord and retina. They may be associated with other diseases such as polycythemia, pancreatic cysts and Von Hippel–Lindau syndrome. Hemangioblastomas are most commonly composed of stromal cells in small blood vessels and usually occur in the cerebellum, brainstem or spinal cord. They are classed as grade I tumors under the World Health Organization's classification system.
The Von Hippel–Lindau tumor suppressor also known as pVHL is a protein that, in humans, is encoded by the VHL gene. Mutations of the VHL gene are associated with Von Hippel–Lindau disease, which is characterized by hemangioblastomas of the brain, spinal cord and retina. It is also associated with kidney and pancreatic lesions.
Hypoxia-inducible factor 1-alpha, also known as HIF-1-alpha, is a subunit of a heterodimeric transcription factor hypoxia-inducible factor 1 (HIF-1) that is encoded by the HIF1A gene. The Nobel Prize in Physiology or Medicine 2019 was awarded for the discovery of HIF.
DNA-directed RNA polymerase II subunit RPB1, also known as RPB1, is an enzyme that is encoded by the POLR2A gene in humans.
RING-box protein 1 is a protein that in humans is encoded by the RBX1 gene.
Elongin B is a protein that in humans is encoded by the ELOB gene.
Cullin-2 is a protein that in humans is encoded by the CUL2 gene.
Ubiquitin-conjugating enzyme E2 D1 is a protein that in humans is encoded by the UBE2D1 gene.
RNA polymerase II elongation factor ELL is an enzyme that in humans is encoded by the ELL gene.
Mediator of RNA polymerase II transcription subunit 21 is an enzyme that in humans is encoded by the MED21 gene.
Elongin A is a protein that in humans is encoded by the ELOA gene.
JADE1 is a protein that in humans is encoded by the JADE1 gene.
Mediator of RNA polymerase II transcription subunit 8 is an enzyme that in humans is encoded by the MED8 gene.
Ubiquitin carboxyl-terminal hydrolase 33 is an enzyme that in humans is encoded by the USP33 gene.
Ubiquitin carboxyl-terminal hydrolase 20 is an enzyme that in humans is encoded by the USP20 gene.
RNA polymerase II holoenzyme is a form of eukaryotic RNA polymerase II that is recruited to the promoters of protein-coding genes in living cells. It consists of RNA polymerase II, a subset of general transcription factors, and regulatory proteins known as SRB proteins.
An endolymphatic sac tumor (ELST) is a very uncommon papillary epithelial neoplasm arising within the endolymphatic sac or endolymphatic duct. This tumor shows a very high association with Von Hippel–Lindau syndrome (VHL).
Erec Stebbins is an American biomedical scientist and novelist. Head of Rockefeller University's Laboratory of Structural Microbiology from 2001 to 2016 and currently Head of Division of Structural Biology of Infection and Immunity at the German Cancer Research Center, he is known for his contributions to the fields of cancer research and infectious disease, studying the structure of disease-related proteins through the technique of X-ray crystallography. He is a published academic writer and has been cited by his peers for his work in cancer research and infectious disease. He is also a novelist and author of science fiction and thrillers.
William G. Kaelin Jr. is an American Nobel laureate physician-scientist. He is a professor of medicine at Harvard University and the Dana–Farber Cancer Institute. His laboratory studies tumor suppressor proteins. In 2016, Kaelin received the Albert Lasker Award for Basic Medical Research and the AACR Princess Takamatsu Award. He also won the Nobel Prize in Physiology or Medicine in 2019 along with Peter J. Ratcliffe and Gregg L. Semenza.