Membranski asocirani transporterski protein
Membrana-asocirani transporterski protein (MATP), poznat i kao porodica rastvornih nosača 45 član 2 ( 'SLC45A2' ) ili antigen melanoma AIM1, je protein koji je kod ljudi kodiran iz gena SLC45A2.[1][2][3]
| Membrana-asocirani transporterski protein | |||||||
|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||
| Simbol | SLC45A2 | ||||||
| Alt. simboli | SLC45A2, 1A1, AIM1, MATP, OCA4, SHEP5
 | ||||||
| OMIM | 606202 | ||||||
| Ortolozi | 9412 | ||||||
| UniProt | Q9UMX9 | ||||||
| Ostali podaci | |||||||
| Lokus | Hrom. 5 p5p13.2{{{lokus_dopunski_podaci}}} | ||||||
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Funkcija uredi
SLC45A2 je transporterski protein koji posreduje sintezu melanina. Može regulirati pH melanosoma, utičući na aktivnost tirozinaze. SLC45A2 je također antigen diferencijacije melanocita koji se izražava u velikom procentu ćelijskih linija melanoma.[4] Gen slične sekvence u ribi medaka, 'B', kodira transporter koji posreduje u sintezi melanina. Mutacije u ovom genu uzrok su očnokožnog melanizma tipa 4. Alternativno spajanje rezultira u više varijanti transkripta koji kodiraju različite izoforme.[3] Ekspresija proteina lokalizirana je na melanosom, a analiza nokdaun ekspresije RNK dovodi do promijenjenog pH melanosoma koji potencijalno mijenja funkciju tirozinaze utječući na vezanje bakra.[5]
U tipovima melanocitnih ćelija, gen SLC45A2 reguliran je faktorom transkripcije, vezanim sa sa mikroftalmijom.[6][7]
Utvrđeno je da SLC45A2 ima ulogu u pigmentaciji kod nekoliko vrsta. Kod ljudi je prepoznat kao faktor u blijede kože Evropljana i kao informativni marker predaka (AIM) za razlikovanje Šrilankaca od evropskog pretka.[8] SLC45A2 je takozvani kremasti gen odgovoran u konja za boju kože zvanu palomino i kremelo, dok je mutacija ovog gena u osnovi varijante bijeli tigar.[9] Kod pasa, mutacija ovog gena uzrokuje bijelo krzno, ružičastu kožu i plave oči.[10] SLC45A2 je identificiran kao melanom tumor-udruženi antigen s visokom specifičnošću tumora i smanjenim potencijalom za autoimunu toksičnost, a još je u kliničkom razvoju kao meta imunoterapije zasnovane na T-ćelijama.[11]
Također pogledajte uredi
Reference uredi
- ^ Nakayama K, Fukamachi S, Kimura H, Koda Y, Soemantri A, Ishida T (Mar 2002). "Distinctive distribution of AIM1 polymorphism among major human populations with different skin color". Journal of Human Genetics. 47 (2): 92–4. doi:10.1007/s100380200007. PMID 11916009.
- ^ Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH (November 2001). "Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4". American Journal of Human Genetics. 69 (5): 981–8. doi:10.1086/324340. PMC 1274374. PMID 11574907.
- ^ a b "Entrez Gene: SLC45A2 solute carrier family 45, member 2".
- ^ Harada M, Li YF, El-Gamil M, Rosenberg SA, Robbins PF (February 2001). "Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells". Cancer Research. 61 (3): 1089–94. PMID 11221837.
- ^ Bin BH, Bhin J, Yang SH, Shin M, Nam YJ, Choi DH, et al. (2015). "Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity". PLOS ONE. 10 (6): e0129273. doi:10.1371/journal.pone.0129273. PMC 4461305. PMID 26057890.
- ^ Du J, Fisher DE (January 2002). "Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF". The Journal of Biological Chemistry. 277 (1): 402–6. doi:10.1074/jbc.M110229200. PMID 11700328.
- ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, et al. (December 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ^ Soejima M, Koda Y (January 2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2". International Journal of Legal Medicine. 121 (1): 36–9. doi:10.1007/s00414-006-0112-z. PMID 16847698.
- ^ Xu X, Dong GX, Hu XS, Miao L, Zhang XL, Zhang DL, et al. (June 2013). "The genetic basis of white tigers". Current Biology. 23 (11): 1031–5. doi:10.1016/j.cub.2013.04.054. PMID 23707431.
- ^ Wijesena HR, Schmutz SM (May–June 2015). "A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds". The Journal of Heredity. 106 (3): 285–8. doi:10.1093/jhered/esv008. PMID 25790827.
- ^ Park J, Talukder AH, Lim SA, Kim K, Pan K, Melendez B, et al. (August 2017). "SLC45A2: A Melanoma Antigen with High Tumor Selectivity and Reduced Potential for Autoimmune Toxicity". Cancer Immunology Research. 5 (8): 618–629. doi:10.1158/2326-6066.CIR-17-0051. PMC 6087543. PMID 28630054.
Dopunska literatura uredi
- Fukamachi S, Shimada A, Shima A (August 2001). "Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka". Nature Genetics. 28 (4): 381–5. doi:10.1038/ng584. PMID 11479596.
- Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B (February 2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Human Mutation. 23 (2): 106–10. doi:10.1002/humu.10311. PMID 14722913.
- Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, et al. (March 2004). "Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan". American Journal of Human Genetics. 74 (3): 466–71. doi:10.1086/382195. PMC 1182260. PMID 14961451.
- Yuasa I, Umetsu K, Watanabe G, Nakamura H, Endoh M, Irizawa Y (December 2004). "MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids". International Journal of Legal Medicine. 118 (6): 364–6. doi:10.1007/s00414-004-0490-z. PMID 15455243.
- Suzuki T, Inagaki K, Fukai K, Obana A, Lee ST, Tomita Y (January 2005). "A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene". The British Journal of Dermatology. 152 (1): 174–5. doi:10.1111/j.1365-2133.2005.06403.x. PMID 15656822.
- Graf J, Hodgson R, van Daal A (March 2005). "Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation". Human Mutation. 25 (3): 278–84. doi:10.1002/humu.20143. PMID 15714523.
- Soejima M, Koda Y (January 2007). "Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2". International Journal of Legal Medicine. 121 (1): 36–9. doi:10.1007/s00414-006-0112-z. PMID 16847698.
- Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, et al. (2006). "Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?". Journal of Human Genetics. 51 (8): 716–20. doi:10.1007/s10038-006-0003-7. PMID 16868655.
- Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, et al. (November 2006). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". Journal of Proteome Research. 5 (11): 3135–44. doi:10.1021/pr060363j. PMID 17081065.
- Zühlke C, Criée C, Gemoll T, Schillinger T, Kaesmann-Kellner B (June 2007). "Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population". Pigment Cell Research. 20 (3): 225–7. doi:10.1111/j.1600-0749.2007.00377.x. PMID 17516931.
- Sengupta M, Chaki M, Arti N, Ray K (August 2007). "SLC45A2 variations in Indian oculocutaneous albinism patients". Molecular Vision. 13: 1406–11. PMID 17768386.
Vanjski linkovi uredi
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