host cell factor C1
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The HCFC1 gene provides instructions for making a protein, called HCF-1, that helps regulate the activity of other genes. HCF-1 interacts with proteins called transcription factors, which attach (bind) to specific regions of DNA and help control the activity of particular genes.
Normal function
The HCFC1 gene provides instructions for making a protein, called HCF-1, that helps regulate the activity of other genes. HCF-1 interacts with proteins called transcription factors, which attach (bind) to specific regions of DNA and help control the activity of particular genes.
One of several functions of the HCF-1 protein is to control the activity of a gene called MMACHC that is involved in the processing of vitamin B12 (also known as cobalamin). This gene plays a role in the conversion of vitamin B12 into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. AdoCbl is called a cofactor because it helps methylmalonyl CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as methionine synthase. This enzyme converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
HCF-1 helps regulate genes that are important in other cellular processes, such as progression of cells through the step-by-step process it takes to replicate themselves (called the cell cycle). This protein also plays a role in the distribution of cells in developing tissues and organs, including the brain.
Conditions referring to this gene or chromosome
Altri nomi
CFF
HCF
HCF-1
HCF1
HFC1
host cell factor 1
MGC70925
MRX3
PPP1R89
protein phosphatase 1, regulatory subunit 89
VCAF
VP16-accessory protein
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Ulteriori letture e riferimenti
- host cell factor C1; MedlinePlus, National Library of Medicine.
- Gerard M, Morin G, Bourillon A, Colson C, Mathieu S, Rabier D, Billette de Villemeur T, Ogier de Baulny H, Benoist JF. Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder. Eur J Med Genet. 2015 Mar;58(3):148-53. doi: 10.1016/j.ejmg.2014.12.015. Epub 2015 Jan 13.
- Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet. 2012 Oct 5;91(4):694-702. doi: 10.1016/j.ajhg.2012.08.011. Epub 2012 Sep 20.
- Jolly LA, Nguyen LS, Domingo D, Sun Y, Barry S, Hancarova M, Plevova P, Vlckova M, Havlovicova M, Kalscheuer VM, Graziano C, Pippucci T, Bonora E, Sedlacek Z, Gecz J. HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. Hum Mol Genet. 2015 Jun 15;24(12):3335-47. doi: 10.1093/hmg/ddv083. Epub 2015 Mar 3.
- Parker JB, Yin H, Vinckevicius A, Chakravarti D. Host cell factor-1 recruitment to E2F-bound and cell-cycle-control genes is mediated by THAP11 and ZNF143. Cell Rep. 2014 Nov 6;9(3):967-82. doi: 10.1016/j.celrep.2014.09.051. Epub 2014 Oct 30.
- Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022.
- Zargar Z, Tyagi S. Role of host cell factor-1 in cell cycle regulation. Transcription. 2012 Jul-Aug;3(4):187-92. doi: 10.4161/trns.20711. Epub 2012 Jul 1.
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