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
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