CAVIN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | CAVIN1 , CAVIN, CGL4, cavin-1, FKSG13, PTRF, polymerase I and transcript release factor, caveolae associated protein 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 603198 MGI: 1277968 HomoloGene: 7499 GeneCards: CAVIN1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Polymerase I and transcript release factor, also known as Cavin1, Cavin-1 or PTRF, is a protein which in humans is encoded by the PTRF gene. [5] [6]
PTRF (Cavin1) has been shown to be crucial for caveola formation and function. [7] Deformation caveolae promotes the translocation of cavin-1 from caveolae to the nucleus [8]
Termination of RNA polymerase I catalyzed transcription is a 2-step process that involves pausing of transcription elongation and release of both the pre-ribosomal RNA and Pol I from the DNA template. The pausing is mediated by TTF1 and PTRF. [9] [10]
PTRF is a soluble protein containing putative leucine zipper, nuclear localization signal, and PEST domains. [11]
PTRF (Cavin1) forms trimers with Cavin2 and Cavin3 in caveola formation and has been shown to interact with other membrane associating proteins such as EHD2 and caveolins. [12]
RNA polymerase 1 is, in higher eukaryotes, the polymerase that only transcribes ribosomal RNA, a type of RNA that accounts for over 50% of the total RNA synthesized in a cell.
Succinate dehydrogenase complex, subunit A, flavoprotein variant is a protein that in humans is encoded by the SDHA gene. This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. SDHA contains the FAD binding site where succinate is deprotonated and converted to fumarate. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Trifunctional enzyme subunit beta, mitochondrial (TP-beta) also known as 3-ketoacyl-CoA thiolase, acetyl-CoA acyltransferase, or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene.
Transcription factor II B (TFIIB) is a general transcription factor that is involved in the formation of the RNA polymerase II preinitiation complex (PIC) and aids in stimulating transcription initiation. TFIIB is localised to the nucleus and provides a platform for PIC formation by binding and stabilising the DNA-TBP complex and by recruiting RNA polymerase II and other transcription factors. It is encoded by the TFIIB gene, and is homologous to archaeal transcription factor B and analogous to bacterial sigma factors.
Caveolin-1 is a protein that in humans is encoded by the CAV1 gene.
Sjögren syndrome type B antigen (SS-B) also known as Lupus La protein is a protein that in humans is encoded by the SSB gene.
Upstream binding transcription factor (UBTF), or upstream binding factor (UBF), is a protein that in humans is encoded by the UBTF gene.
ATP synthase F1 subunit beta, mitochondrial is an enzyme that in humans is encoded by the ATP5F1B gene.
Zinc finger protein 148 is a protein that in humans is encoded by the ZNF148 gene.
Transcription elongation factor A protein 2 is a protein that in humans is encoded by the TCEA2 gene.
Cytochrome b-c1 complex subunit 1, mitochondrial is a protein that in humans is encoded by the UQCRC1 gene.
Alpha-parvin is a protein that in humans is encoded by the PARVA gene.
Ras suppressor protein 1 is a protein that in humans is encoded by the RSU1 gene.
TATA box-binding protein-associated factor RNA polymerase I subunit C is an enzyme that in humans is encoded by the TAF1C gene.
Transcription termination factor 1 is a protein that in humans is encoded by the TTF1 gene.
RNA polymerase I-specific transcription initiation factor RRN3 is an enzyme that in humans is encoded by the RRN3 gene.
EH-domain containing 2, also known as EHD2, is a human gene belonging to the EHD protein family.
Cavin-2 or Serum deprivation-response protein (SDPR) is a protein that in humans is encoded by the SDPR gene. Cavin-2 is highly expressed in a variety of human endothelial cells.
NAD-dependent deacetylase sirtuin 7 is an enzyme that in humans is encoded by the SIRT7 gene. SIRT7 is member of the mammalian sirtuin family of proteins, which are homologs to the yeast Sir2 protein.
3-Ketoacyl-CoA thiolase, mitochondrial also known as acetyl-Coenzyme A acyltransferase 2 is an enzyme that in humans is encoded by the ACAA2 gene.