The Oaks

The Oaks

Etiketter

måndag 2 november 2026

AMACR GEENI MUISTIIN, entsyymi tekee inversiota seka pristanyyliCoA että C27sappihappoCoA molekyylien alfa-C asemaan.

 

AMACR alpha-methylacyl-CoA racemase [ Homo sapiens (human) ]

Gene ID: 23600, updated on 13-Oct-2026
Official Symbol
AMACRprovided by HGNC
Official Full Name
alpha-methylacyl-CoA racemaseprovided by HGNC
Primary source
HGNC:HGNC:451
See related
Ensembl:ENSG00000242110 MIM:604489; AllianceGenome:HGNC:451
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RM; RACE; CBAS4; P504S; AMACRD
Summary
This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to dcts in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
Expression
Broad expression in kidney (RPKM 38.3), liver (RPKM 31.1) and 22 other tissues See more
Orthologs
Try the new Gene page

Refsum dieetistä nykyistä tiedettä , aivan päivitettyä 2026

 

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).
Ramachandran R, Buttigieg R, Eichler F, Leroy BP, Mahroo O, Huckfeldt RM, Firman S, Baldwin E, DeMarco K, Kuranoff S, Fine A, Klingel R, Ferdinandusse S, Hacia JG, Wanders RJ, Wierzbicki AS.J Inherit Metab Dis. 2026 May;49(3):e70201. doi: 10.1002/jimd.70201.PMID: 42161578 Free PMC article. Review.
Adult Refsum disease (ARD; OMIM 266510) is a degenerative autosomal recessive condition typically diagnosed in adulthood. ...Greater clinician and patient awareness will lead to early diagnosis and improved outcomes. Implementation of a low PA diet before further en …
Adult Refsum Disease: Case Series of Reducing Circulating Phytanic Acid Levels With Dietary Interventions.
Firman SJ, Cook J, Hall I, Yeung K, Buttigieg R, Vaz F, Wierzbicki AS, Ramachandran R.JIMD Rep. 2026 May 15;67(3):e70048. doi: 10.1002/jmd2.70048. eCollection 2026 May.PMID: 42145913 Free PMC article.
Adult Refsum disease (ARD, OMIM #266510) is an autosomal recessive condition, resulting in phytanic acid (PA) accumulation in plasma and tissue. ...Four patients already established on the low PA diet for > 10 years experienced a rapid rise in circulating PA levels due to weight loss and/or inadequate carbohydrate intakes, despite adherence to a low PA diet. Circulating PA levels more than doubled in all four of these cases. Implementing dietary interventions to ensure adequate energy, carbohydrates and weight stabilisation resulted in a decrease in circulating PA levels by 47%-84% in the outpatient setting. The reduction in circulating PA occurred within 1.6-5 months. These cases demonstrate that PA restriction, and weight and carbohydrate management have integral roles in ensuring metabolic stability in ARD. This case series highlights that circulating PA levels can be reduced more rapidly with dietary interventions than previously shown in case series of chronic management.
 
Synthesis of stable isotope labeled analogs of phytanic acid for separate and combined tracing of alpha-, beta- and omega-oxidation.
Broadrup RL, Schwartz AC, Smith J, von Trentini D, Snyder NW.bioRxiv [Preprint]. 2025 Nov 27:2025.11.24.689497. doi: 10.1101/2025.11.24.689497.PMID: 41394623 Free PMC article. Preprint.
Phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) is a branched very long chain fatty acid (VLCFA) derived in humans from the diet and catabolized via peroxisomal metabolism. Catabolism of phytanic acid is important in humans as certain inborn errors of peroxisomal me …
4
Identification of novel pathogenic variants in the PHYH gene and extending the phenotypic range in Refsum disease.
Gregory-Evans CY, Lehman A, Mattman A, Kirby M, Gregory-Evans K.Ophthalmic Genet. 2026 Jun;47(3):283-286. doi: 10.1080/13816810.2025.2591819. Epub 2025 Nov 25.PMID: 41290216

Both patients were referred to the metabolic disease clinic and phytanic acid levels were found to be 256 g/mL in P1 (normal is < 3 g/mL) and 48.2 mol/L in P2 (normal is < 2.2 mol/L) confirming the diagnosis of Refsum disease. Both patients shared systemic featur

…
5
 
Forty-year odyssey to Refsum disease diagnosis: impact of diagnostic delay on effective treatment.
Truong P, Mack HG, Metha AB, Deen N, Hickey DG, Huq A, Britten-Jones AC, Ayton LN.Clin Exp Optom. 2025 Jul;108(5):636-639. doi: 10.1080/08164622.2024.2401509. Epub 2024 Sep 15.PMID: 39277904 Free article. No abstract available

Keywords: Diet; multidisciplinary care; retinitis pigmentosa; syndrome.

KOMMENTTIA fytaanihappoa vähentävästä dieetistä: Koska fytaanihappo on pitkä haaralnen rasvahappo,  jossa  sivuhaarat sijaitsevat strategisessa  a.-hiili asemassa  siten että tavallinen beta-oksidaatio ei voi alkaa ilman siihen spesifioitunutta entsyymiä,  tämän hapon liikkertymä haijastaa ongelmaa juuri tuossa entsyymikohdassa. Tuon kohdan pitää lisäksi olla  stereoisomeerisesti oikein päin, jotta entsyymi  pystyyn. Normlaaisti  fytaanihaposta pitäisi tulla pristaanihappoa, joka jatkaa  betaoksidaatiotietä. siitä tiestä   saadaan mm. koliinia normaalisti, joten koliini ei ole vitamiini, vaikka jotkut sitä  vitamiiniksi  ajattelisivat. 
Jo Raamatun ohjeet kyllä antaisivat   Refsumin dieettiin viittavat ohjeita, jos huomattaisiin . Nimittäin  fytaanihappo on mm. naudan rasvaosassa, myös rasvaisissa  kaloissa,   rasvaisissa maitotuotteissa. Myös  kasvikunnassa  kuoriosassa  pähkinöitä.  kuten maapähkinän kuoressa.  Mooseksen laissa  käskettiin rasvaosat erottaa  Jumalalle itselleen  niistä lihauhreista, joita papisto söi.  (Luoja halusi  säästää pappien sydämet ja silmät hyvässä kunnossa) ,Osista hedelmiä mainittiin ettei kuorta tulisi käyttää. Paavali mainitsi että maitosopii lapsille, ja aikuisille kuuluu täysikäisen ruoka.  Nämä esimerkit ainakin huomaan. Nykyaika antaa hyvin tarkat  dieettiohjeet. 
Tauti on harvinainen ja  silmäoireitten ilmetessä  dieetti  on tärkeä.Laboratoriossa   on mitattavissa  fytaanihappopitoisuudet. 

Beta-oksidation, alfa-oksidation ja isopreenirakenteet . AMACR geeni , alfa-metyyli-Coa Rasemaasi, koliininmuodostuksessa tärkeä kohta

 https://pubmed.ncbi.nlm.nih.gov/11893780/

. 2002 Mar;43(3):438-44.

Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders

Affiliations
  • PMID: 11893780
Free articleAbstract

Phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) is a branched-chain fatty acid derived from dietary sources and broken down in the peroxisome to pristanic acid (2,6,10,14-tetramethylpentadecanoic acid) via alpha-oxidation. Pristanic acid then undergoes beta-oxidation in peroxisomes. Phytanic acid naturally occurs as a mixture of (3S,7R,11R)- and (3R,7R,11R)-diastereomers. In contrast to the alpha-oxidation system, peroxisomal beta-oxidation is stereospecific and only accepts (2S)-isomers. Therefore, a racemase called alpha-methylacyl-CoA racemase is required to convert (2R)-pristanic acid into its (2S)-isomer. To further investigate the stereochemistry of the peroxisomal oxidation systems and their substrates, we have developed a method using gas-liquid chromatography-mass spectrometry to analyze the isomers of phytanic, pristanic, and trimethylundecanoic acid in plasma from patients with various peroxisomal fatty acid oxidation defects. In this study, we show that in plasma of patients with a peroxisomal beta-oxidation deficiency, the relative amounts of the two diastereomers of pristanic acid are almost equal, whereas in patients with a defect of alpha-methylacyl-CoA racemase, (2R)-pristanic acid is the predominant isomer. Furthermore, we show that in alpha-methylacyl-CoA racemase deficiency, not only pristanic acid accumulates, but also one of the metabolites of pristanic acid, 2610-trimethylundecanoic acid, providing direct in vivo evidence for the requirement of this racemase for the complete degradation of pristanic acid.

  • https://www.sciencedirect.com/science/article/abs/pii/S1096719217302378?via%3Dihub

https://www.genecards.org/search/results?q=alpha-methylacyl-CoA+racemase%2c

  • GeneCards: AMACR encodes alpha-methylacyl-CoA racemase, an enzyme that converts pristanoyl-CoA and C27-bile acyl-CoAs between their (R)- and (S)-stereoisomers. This reaction is required for degradation of these substrates by peroxisomal beta-oxidation. The protein functions in metabolic pathways linked to bile acid biosynthesis and fatty acid metabolism. The encoded enzyme localizes to the mitochondrion, peroxisome, cytoplasm, and plasma membrane, placing it at the center of intracellular lipid handling. Its activity is associated with catalytic function and binding, and tissue expression is high in the respiratory system and renal system, with substantial expression in the hepatobiliary system and proximal digestive tract. Read-through transcription also exists between AMACR and the upstream neighboring C1QTNF3 gene. Pathogenic variants in AMACR are reported in congenital bile acid synthesis defect type 4 and alpha-methylacyl-CoA racemase deficiency. Mutations in AMACR have also been associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis.
  • Alias: Alpha-Methylacyl-CoA Racemase
  • Alias: 2-Methylacyl-CoA Racemase
  • NCBI Gene: This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
    • alpha-methylacyl-CoA racemase,expressed in liver,peroxisomal,converting pristanoyl-CoA and C27 beta acyl-CoA to their (5) stereoisomers,essential step for the formation of cholic acid by the normal peroxisomal pathway (GENATLAS)
    • Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of alpha-methylacyl-CoAs, including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), and arylpropionic acids like the anti-inflammatory drug ibuprofen (2-(4-isobutylphenyl)propionic acid) but neither 3-methyl-branched nor linear-chain acyl-CoAs. (UniProtKB/TrEMBL)
    • Disorder(2 records)
      • Alpha-Methylacyl-Coa Racemase Deficiency Gene-disease relationship from OMIM®, UniProtKB/Swiss-Prot, ClinVar and three more
        Aliases:
          Alpha-Methylacyl-Coa Racemase Deficiency
        Symptoms:
          reduced alpha-methylacyl-coa racemase activity in cultured fibroblasts
        Summaries:
        • Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of brain dysfunction (encephalopathy) similar to stroke, involving altered consciousness and areas of damage (lesions) in the brain. Other features of AMACR deficiency may include weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and difficulty coordinating movements (ataxia). Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder.
      • Bile Acid Synthesis Defect, Congenital, 4 Gene-disease relationship from OMIM®, UniProtKB/Swiss-Prot, ClinVar and two more
        Aliases:
        • 2-Methylacyl-Coa Racemase Deficiency
        • Alpha-Methyl-Acyl-Coa Racemase Deficiency
        • Alpha-Methylacyl-Coa Racemase Deficiency

måndag 3 april 2023

Aloe vera tutkimuksista

 https://link.springer.com/chapter/10.1007/978-3-0348-0927-6_6

Home

The Genus Aloe: Phytochemistry and Therapeutic Uses Including Treatments for Gastrointestinal Conditions and Chronic Inflammation

Part of the Progress in Drug Research book series (PDR,volume 70)

Abstract

Plants of the genus Aloe have perhaps the longest recorded history of medicinal usage and are amongst the most widely used plants for traditional medicinal purposes worldwide. Aloe vera , Aloe ferox , Aloe arborescens and Aloe perryi are the best known and most widely used, but many other species are also used for their therapeutic properties. The Aloes have been used since ancient times, particularly for the treatment of microbial infections, gastrointestinal disorders and inflammatory conditions. In addition to their myriad uses in traditional therapeutics, the Aloes have also been used as components of cosmetic formulations, and in the food and beverage industries. Despite their wide acceptance, studies from different laboratories often report wide variations in the therapeutic bioactivities from within the same Aloe species, even when the same extraction procedures are used. Furthermore, leaves from individual Aloe plants within the same species may have widely varying levels of the bioactive phytochemicals. Phytochemical analyses have shown that many Aloe species contain various carbohydrate polymers (notably glucomannans ) and a range of other low molecular weight phenolic compounds including alkaloids , anthraquinones , anthrones , benzene and furan derivatives , chromones , coumarins , flavonoids , phytosterols , pyrans and pyrones . There has been a wealth of information published about the phytochemistry and therapeutic potential of the Aloes (especially Aloe vera). Much of this has been contradictory. Intra- and interspecies differences in the redox state of the individual Aloe components and in the ratios of these components may occur between individual plants. These factors may all affect the physiological properties of Aloe extracts. Due to the structure and chemical nature of many of the Aloe phytochemicals, it is likely that many of the reported medicinal properties are due to antioxidant or prooxidant effects. The antioxidant/prooxidant activities of many Aloe phytochemicals depend not only on their individual levels, but also on the ratios between the various components and their individual redox states. Therefore, discrepancies between bioactivity studies are likely when using different crude mixtures. This report aims to summarise the phytochemistry of the Aloes and (a) examine how their constituents may be responsible for their medicinal properties and (b) some possible reasons for the wide variations reported for their medicinal properties and (c) their therapeutic mechanisms. Some future areas of research into the medicinal activities of this important genus are also highlighted.

Keywords

  • Aloe vera
  • Inflammation
  • Anticancer
  • Antioxidant
  • Anthraquinone
  • Anthrone

This is a preview of subscription content, access via your institution.

 

fredag 3 mars 2023

Eteerisen kuminaöljyn tuoksuinen karvoni, Carvone, Karvon, on terpeeniketoni

 http://www.shenet.se/ravaror/karvon.html

Doftbeskrivning
1) D-karvon: Luktar eterisk kumminolja.
2) L-karvon: Luktar eterisk grönmyntaolja men sötare och renare.
Användning
1) D-karvon: Kummindofter använda mycket i mat; kan ingå med upp till 2 % av doftämnena.
2) L-karvon: Använda i friska dofter där den kan utgöra upp till 3 % av doftämnena.

• insektsmedel: Stöter bort insekter.

Kramplösande på glatt muskulatur, vilket är en del av förklaringen till att eteriska oljor som kumminessens är till hjälp vid kolik.

Mat och dryck
Smakämnen i matindustrin - ger kummin- respektive myntasmak.
Giftighet
Som så många ketoner - ja.
1) d-karvon: FAO/WHO har satt gränsen för acceptabelt dagligt intag vid 1 mg per kilo kroppsvikt. Akut giftighet prövades i en studie i början av 80-talet; 800 mg olja per kilo kroppsvikt injicerad på möss framkallade kramper. Översatt till människa (70 kilo): injicerar man 54 gram karvon (56 ml) får man troligen kramper.
2) l-karvon: Åtminstone en av l-karvonerna uppges vara giftig, men inte mer än att den används som smakämne i livsmedel. 
 

 

 

 

Farmakopéerna
Karvon ersatte eterisk kumminolja i 1901 och 1908 års upplagor av svenska farmakopén men kumminoljan togs tillbaka 1925. I Tyskland där karvon var officinellt kring förra sekelskiftet kallades det Oleum carvi, kumminoljans farmakopénamn i andra länder.
Framställning 1) D-Karvon
• Källor: Utgör den tyngre delen av kumminessens (50-60 %), mer ju mognare fröna är. Destilleras också ur dillfröessens (35-60 %).

• Tillverkning: Terpenketon (monoterpen och omättad keton) som oxideras (syre upptas, väte avges) ur terpenen L-limonen (vänstervridande limonen).
2) L-Karvon
• Källor: Mest i grönmyntaessens (50-70 %) varur det extraheras.
• Tillverkning: Terpenketon (monoterpen och omättad keton) som oxideras ur terpenen D-limonen (högervridande limonen).
Beskrivning
Båda är färglösa till ljusgula vätskor som gulnar i kontakt med luft. De är kemiskt identiska men spegelvända och luktar olika.

100 ml väger ca 96 gram. 100 gram = ca 104 ml.

• Lösliga i 48-50 % alkohol (löses klart i 20 delar), vegetabilisk olja, mineralolja, propylenglykol.
• Olösliga i vatten, glycerin.
Innehåll Om ovanstående alkohollösning grumlas är karvonet förorenat av karven, den rest som återstår i kumminolja när karvon tagits bort; bestående huvudsakligen av limonen.
Varianter
• Många ytterligare former - dl-, pino-, iso-, cis-, trans-...
Ersättning
• Kumminolja kan ersätta och ersättas av karvon. T. ex. tillät 1901 och 1908 års svenska farmakopéer att karvon utlämnades om recept angav kumminolja.
Hållbarhet Förvaras som eteriska oljor - mörkt, svalt, tillslutet. Inte särskilt hållbart. Gul färg är ett tecken på att karvonet är gammalt eller har förvarats fel. D-karvon används för att hindra potatis från att gro och mögla under lagring.
Inköp We don't sell, we tell!
Inget man hittar i svenska butiker.

 

 

fredag 10 juli 2020

RhoGTPaasi, Geranylgeranyltransferaasi-1, podosyytti , Bpix

https://gupea.ub.gu.se/handle/2077/64541

A Podocyte view on RhoGTPases and actin cytoskeleton regulation

  Amplification of the Melanocortin-1 Receptor In Nephrotic Syndrome Identifies a Target for Podocyte Cytoskeleton Stabilization. Bergwall L, Wallentin H, Elvin J, Liu P, Boi R, Sihlbom C, Hayes K, Wright D, Haraldsson B, Nyström J and Buvall L. Scientific Reports (2018) 8 (1), 15731
VISA ARTIKEL


II: Podocyte Geranylgeranyl transferase type I is essential for maintenance of the glomerular filtration barrier function. Bergwall L, Boi R, Akula M.K, Ebefors K, Bergo O.M, Nyström J, Buvall L. Manuscript.

The Role of Beta-pix in podocyte Rac1 activation and cytoskeleton rearrangement. Bergwall L, Wallentin H, Boi R, Svensk S, Lövljung V, Sihlbom C, Weins A, Ericsson A, William-Olsson L, Granqvist B. A, Ebefors K, Nyström J, Buvall L. Manuscript.

Fredagen den 4 september 2020, kl 9.00, Hjärtats Aula, Sahlgrenska Universitetssjukhuset, Göteborg
Proteinuria is a hallmark symptom of chronic kidney disease, that if left to persist constitutes a risk for progression of disease. Symptomatic treatment aiming at decreasing proteinuria is therefore standard practice. Curative treatments for the underlying cause of disease are however lacking and treatments currently in use to induce disease remission are associated with unfavorable side effects. Dysregulation of the podocyte actin cytoskeleton underlies the pathological process called foot process effacement (FPE), which is one of the leading causes of proteinuria. The studies included in this thesis have focused on podocyte actin cytoskeleton regulation and a group of proteins called RhoGTPases, known to be involved in actin cytoskeleton regulation in podocytes. In the first study, glomerular microarray analysis showed an increase in the expression of the melanocortin 1-receptor (MC1R) in renal diseases focal segmental glomerulosclerosis and membranous nephropathy. Subsequent mass spectrometry analysis in combination with pathway and biochemical analysis revealed the podocyte protective effects of MC1R stimulation in vitro. Activation of MC1R proved to be stabilizing the podocyte actin cytoskeleton through inhibition of the epidermal growth factor receptor (EGFR) and maintenance of the actin associated protein synaptopodin. In the second study, the depletion of the prenylation enzyme Geranylgeranyl transferase type I (GGTase-I) in podocytes led to the development of proteinuria and FPE in mice due to an imbalanced RhoGTPase activity and disruption of the actin cytoskeleton. These findings suggest that GGTase-I activity is essential for podocyte function. In the last study, a guanine nucleotide exchange factor (activator of RhoGTPases) named Bpix was identified to be modulated in podocytes following treatment with a renal stressor, using mass spectrometry analysis. Gene silencing of Bpix protected against actin cytoskeleton remodulation in a model of podocyte injury, demonstrating the importance of Bpix for podocyte actin cytoskeleton regulation. In conclusion, the results in this thesis confirm the importance of actin cytoskeleton regulation for podocyte integrity. Further on, the results provide new information on actin cytoskeleton regulatory pathways involving RhoGTPases in podocytes, which can be of importance for future attempts in finding targeted treatments of proteinuria and chronic kidney disease.

torsdag 2 juli 2020

Prenylaatio on posttranslationaalinen modifikaatio eräisiin proteiiniin.

Otan sitaattina vielä netistä biologian opetusta prenylaatiosta, sillä  SARS2-viruksella on muutamia interaktioproteiineja  prenyloiduissa ihmisen proteiineissa kuten    RAB14 ( Ras onkogeeni-perheen jäsen) , RALA( Ras like proto-onkogeeni A), RAB5C, RAB7A, RAB2A, RAB10, RHOA (Ras homologisen  perheen jäsen A).
Prenylaatiotie taas on  maailmassa yleisesti  lääkkein vaikutettuna, koska sen tien päädyssä on koplesterolisynteesi, jota koetetaan säätää.  Mitä lääkesäätö vaikuttaa   prenylaation normaalikarttaan kehossa, on toinen asia. Prenylaatiotie on  kompromittoitunut syövissä.
https://media.springernature.com/lw685/springer-static/image/art%3A10.1007%2Fs12035-013-8627-z/MediaObjects/12035_2013_8627_Fig1_HTML.gif

https://what-when-how.com/molecular-biology/prenylation-molecular-biology/

Prenylation (Molecular Biology)

Prenylation or isoprenylation is a post-translational modification (PTM) process in which cysteine residues close to the C-terminal regions of some eukaryotic proteins are biosynthetically modified with an isoprenoid lipid: the 15-carbon farnesyl group or the 20-carbon geranylgeranyl group (see Fig. 1 and Table 1). Prenylation provides some proteins with a hydrophobic membrane anchor, and is important for their correct localization within the cell. Prenylation is one of several processes that attach lipid membrane anchors to proteins (see Membrane Anchors).

Figure 1. Modification of C-terminal cysteine residues by prenyl groups. The C-terminal cysteine residue of the protein is outlined by the dotted line. The thiol group is thioether-linked to either a farnesyl or a geranylgeranyl group, and the exposed carboxyl group is methylated.
 
http://what-when-how.com/wp-content/uploads/2011/05/tmp1C12_thumb.jpg 


Table 1. Examples of Prenylated Proteins
 
Farnesylated
Ras proteins
Transducin g subunit
Rhodopsin kinase
Nuclear lamins A and B
Fungal mating pheromonesa
Geranylgeranylated
g subunits of heterotrimeric G-proteins
Ras-related G-proteins (Rho/Rac/Rap/Ral/Rab)

Isoprenoids are branched unsaturated hydrocarbons that are synthesized in eukaryotic cells from acetyl Coenzyme A (Acetyl CoA)  by the first part of the metabolic pathway that is used to synthesize cholesterol and other sterols.
Attachment of isoprenoids to proteins is a post-translational process with four main steps:
 1) recognition of the C-terminal sequence (CAAX)  by one of three distinct prenyltransferases (1);
 2) prenylation of a cysteine (C)  residue(s) located at or close to the C-terminus using farnesylpyrophosphate  (FPP) or geranylgeranylpyrophosphate (GGPP)  as the substrate;
 3) proteolysis of the C-terminal residues  (-AAX) exposes the carboxyl group on the prenylated cysteine; and
 4) the isoprenylated cysteine is recognized by a methyltransferase, which methylates the carboxyl group using S-adenosyl methionine (SAM) as the methyl donor.
Steps 1) to 3) take place in the cytosol, whereas step 4) occurs on the cytoplasmic surface of the endoplasmic reticulum (ER) or the plasma membrane (PM) .
 Thus efficient methylation requires prior isoprenylation to localize the protein at the membrane surface. The thioether linkage between the cysteine and the prenyl group is chemically very stable and probably not subject to metabolic turnover. However, the carboxylic ester linkage to the methyl group is relatively labile, and may be removed after attachment. These steps differ substantially between proteins, depending on the sequence motif at the C-terminus:
 
1. Cys-a-a-X (CAAX)  If X is serine (S) , methionine (M), or glutamine (E), it is recognized by farnesyl transferase (FTase), and the cysteine residue will be farnesylated.
If X is leucine (L), it is recognized by geranylgeranyltransferase I (GGTase-1), and the cysteine residue will be geranylgeranylated. The identity of the "a" residues (usually aliphatic) is less important, but can influence whether isoprenylation takes place or not.
Farnesyl transferase and geranylgeranyltransferase I are both heterodimers; they have identical a subunits, whereas the a subunits have only 30% identify.
Farnesylation can also occur at the C-terminus of a variety of fungal mating pheromone peptides, and in yeast the same enzyme is used for farnesylating both proteins and peptides. Although farnesyl groups have relatively low affinity for membranes themselves, they can enhance the membrane association due to other lipid groups. Farnesyl groups, because of their small size, may also play an important role in protein-protein interactions by binding directly to specific sites on other proteins (2, 3).


2. Cys-Cys, Cys-X-Cys or Cys-Cys-X-X.
(CC, CXC or CCXX)  These double cysteine motifs (CC)  are restricted to the Rab subgroup of Ras-related small G-proteins. The Rab protein first forms a complex with Rab escort protein (REP1, CHM).
The Rab-REP complex is then recognized by geranylgeranyltransferase II.
 After prenylation, REP remains bound to Rab until it is delivered to the membrane.
 REP (CHM)  probably has a dual role: recognition of Rab and masking the two geranylgeranyl groups until they can be inserted into the appropriate membrane. Both cysteines are geranylgeranylated, and consequently proteolysis cannot occur. The C-terminus is not methylated in those Rab proteins ending with the sequence Cys-Cys (4).

Many of the prenylated proteins are involved in signal transduction or vesicle traffic, and the prenyl group, by facilitating rapid and reversible binding to membranes, plays an essential role in these functions (5, 6).
The membrane affinity of the prenylated proteins can be influenced by four different mechanisms (for a general discussion of factors which can affect membrane affinity of lipid anchored proteins, see Membrane Anchors):
1. The attachment of a palmitate residue (see Palmitoylation) to a cysteine close to the C-terminus reinforces the binding (eg, as in H- or N-Ras). Palmitoylation only occurs in membranes, however, so prenylation is required for it to take place (7).
2. The presence of basic residues close to the C-terminus will result in electrostatic attraction to the negatively charged bilayer surface (as in K-Ras) and increase membrane affinity (8).
3. Methylation converts the C-terminal residue from a negatively charged, hydrophilic group to an uncharged, hydrophobic group and increases membrane affinity approximately 10-fold (5, 6)). The increase in affinity is due to the hydrophobicity of the methyl group, rather than a reduction in electrostatic repulsion, because methylation gives comparable increases in binding to uncharged membranes. Methylation can have a profound influence on the cellular distribution of farnesylated proteins, because the farnesyl group is too short to provide an effective anchor by itself. Turnover of the methyl group has also been observed, and it is possible that repeated cycles of methylation and demethylation are used to regulate protein function.
4. The membrane affinity will be reduced by soluble carrier proteins, which are able to bind to the isoprenyl group(s) and mask them from the aqueous environment. This mechanism is important for the repeated releasing and recycling of Rab proteins during membrane vesicular traffic processes (9, 10)).
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