MTAP
S-metil-5'-tioadenozin fosforilaza je enzim koji je kod ljudi kodiran genom MTAP .[ 5] [ 6]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 283 aminokiseline , а molekulska težina 31.236 Da .[ 7]
10 20 30 40 50 MASGTTTTAV KIGIIGGTGL DDPEILEGRT EKYVDTPFGK PSDALILGKI KNVDCVLLAR HGRQHTIMPS KVNYQANIWA LKEEGCTHVI VTTACGSLRE EIQPGDIVII DQFIDRTTMR PQSFYDGSHS CARGVCHIPM AEPFCPKTRE VLIETAKKLG LRCHSKGTMV TIEGPRFSSR AESFMFRTWG ADVINMTTVP EVVLAKEAGI CYASIAMATD YDCWKEHEEA VSVDRVLKTL KENANKAKSL LLTTIPQIGS TEWSETLHNL KNMAQFSVLL PRH
Funkcija
Ovaj ge kodira enzim koji ima glavnu ulogu u matabolizmu poiliamina i važan je za spašavanje adenina i metionina . Kodirani enzim nedostaje u mnogim tipovima raka jer se ovaj gen i supresor tumora p16gen kodeletiraju. Za ovaj gen opisano je više alternativno prerađenih varijanti transkripta , ali njihova priroda u punoj dužini ostaje nepoznata.[ 6]
Reference
^ a b c GRCh38: Ensembl release 89: ENSG00000099810 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062937 - Ensembl , maj 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Schmid M, Sen M, Rosenbach MD, Carrera CJ, Friedman H, Carson DA (Dec 2000). "A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer" . Oncogene . 19 (50): 5747–54. doi :10.1038/sj.onc.1203942 PMID 11126361 . ^ a b "Entrez Gene: MTAP methylthioadenosine phosphorylase" .^ "UniProt, Q13126" . Pristupljeno 10. 9. 2021 .
Dopunska literatura
Carrera CJ, Eddy RL, Shows TB, Carson DA (1984). "Assignment of the gene for methylthioadenosine phosphorylase to human chromosome 9 by mouse-human somatic cell hybridization" . Proc. Natl. Acad. Sci. U.S.A . 81 (9): 2665–8. Bibcode :1984PNAS...81.2665C . doi :10.1073/pnas.81.9.2665 PMC 345130 PMID 6425836 . Olopade OI, Pomykala HM, Hagos F, et al. (1995). "Construction of a 2.8-megabase yeast artificial chromosome contig and cloning of the human methylthioadenosine phosphorylase gene from the tumor suppressor region on 9p21" . Proc. Natl. Acad. Sci. U.S.A . 92 (14): 6489–93. Bibcode :1995PNAS...92.6489O . doi :10.1073/pnas.92.14.6489 PMC 41543 PMID 7604019 . Nobori T, Takabayashi K, Tran P, et al. (1996). "Genomic cloning of methylthioadenosine phosphorylase: a purine metabolic enzyme deficient in multiple different cancers" . Proc. Natl. Acad. Sci. U.S.A . 93 (12): 6203–8. Bibcode :1996PNAS...93.6203N . doi :10.1073/pnas.93.12.6203 PMC 39214 PMID 8650244 . Della Ragione F, Takabayashi K, Mastropietro S, et al. (1996). "Purification and characterization of recombinant human 5'-methylthioadenosine phosphorylase: definite identification of coding cDNA". Biochem. Biophys. Res. Commun . 223 (3): 514–9. doi :10.1006/bbrc.1996.0926 . PMID 8687427 . Appleby TC, Erion MD, Ealick SE (1999). "The structure of human 5'-deoxy-5'-methylthioadenosine phosphorylase at 1.7 A resolution provides insights into substrate binding and catalysis" . Structure . 7 (6): 629–41. doi :10.1016/S0969-2126(99)80084-7 PMID 10404592 . Gursky S, Olopade OI, Rowley JD (2001). "Identification of a 1.2 Kb cDNA fragment from a region on 9p21 commonly deleted in multiple tumor types". Cancer Genet. Cytogenet . 129 (2): 93–101. doi :10.1016/S0165-4608(01)00444-7 . PMID 11566337 . Christopher SA, Diegelman P, Porter CW, Kruger WD (2002). "Methylthioadenosine phosphorylase, a gene frequently codeleted with p16(cdkN2a/ARF), acts as a tumor suppressor in a breast cancer cell line". Cancer Res . 62 (22): 6639–44. PMID 12438261 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Bornhauser BC, Olsson PA, Lindholm D (2003). "MSAP is a novel MIR-interacting protein that enhances neurite outgrowth and increases myosin regulatory light chain" . J. Biol. Chem . 278 (37): 35412–20. doi :10.1074/jbc.M306271200 PMID 12826659 . Behrmann I, Wallner S, Komyod W, et al. (2003). "Characterization of methylthioadenosin phosphorylase (MTAP) expression in malignant melanoma" . Am. J. Pathol . 163 (2): 683–90. doi :10.1016/S0002-9440(10)63695-4 . PMC 1868213 PMID 12875987 . Subhi AL, Diegelman P, Porter CW, et al. (2004). "Methylthioadenosine phosphorylase regulates ornithine decarboxylase by production of downstream metabolites" . J. Biol. Chem . 278 (50): 49868–73. doi :10.1074/jbc.M308451200 PMID 14506228 . Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins" . Proc. Natl. Acad. Sci. U.S.A . 101 (33): 12130–5. Bibcode :2004PNAS..10112130B . doi :10.1073/pnas.0404720101 PMC 514446 PMID 15302935 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Bataille F, Rogler G, Modes K, et al. (2005). "Strong expression of methylthioadenosine phosphorylase (MTAP) in human colon carcinoma cells is regulated by TCF1/[beta]-catenin" . Lab. Invest . 85 (1): 124–36. doi :10.1038/labinvest.3700192 PMID 15492751 . Berasain C, Hevia H, Fernández-Irigoyen J, et al. (2004). "Methylthioadenosine phosphorylase gene expression is impaired in human liver cirrhosis and hepatocarcinoma". Biochim. Biophys. Acta . 1690 (3): 276–84. doi :10.1016/j.bbadis.2004.08.002 . hdl :10171/21382 PMID 15511635 . Subhi AL, Tang B, Balsara BR, et al. (2005). "Loss of methylthioadenosine phosphorylase and elevated ornithine decarboxylase is common in pancreatic cancer" . Clin. Cancer Res . 10 (21): 7290–6. doi :10.1158/1078-0432.CCR-04-0972 PMID 15534104 . Hustinx SR, Hruban RH, Leoni LM, et al. (2005). "Homozygous deletion of the MTAP gene in invasive adenocarcinoma of the pancreas and in periampullary cancer: a potential new target for therapy" . Cancer Biol. Ther . 4 (1): 83–6. doi :10.4161/cbt.4.1.1380 PMID 15662124 . Hustinx SR, Leoni LM, Yeo CJ, et al. (2005). "Concordant loss of MTAP and p16/CDKN2A expression in pancreatic intraepithelial neoplasia: evidence of homozygous deletion in a noninvasive precursor lesion" . Mod. Pathol . 18 (7): 959–63. doi :10.1038/modpathol.3800377 PMID 15832197 . Hellerbrand C, Mühlbauer M, Wallner S, et al. (2007). "Promoter-hypermethylation is causing functional relevant downregulation of methylthioadenosine phosphorylase (MTAP) expression in hepatocellular carcinoma" . Carcinogenesis . 27 (1): 64–72. doi :10.1093/carcin/bgi201 PMID 16081515 .
Vanjski linkovi
