TSFM
Mitohondrijski faktor elongacije Ts je protein koji je kod ljudi kodiran genom TSFM. To je homolog EF-Ts-a.[5][6]
Ovaj gen kodira faktor elongacije mitohondrijske translacije. Kodirani protein je enzim, koji katalizira razmjenu guaninskih nukleotida gvanina na faktoru elongacije translacije, tokom koraka produženja mithondrijskog proteina.
Mutacije u ovom genu povezane su sa sindromom kombinirane deficijencije oksidativne fosforilacije-3. Alternativna prerada rezultira u više varijanti transkripta (prema RefSeq, mart 2010.) Sveprisutna ekspresija nađena je u nadbubrežnim žlijezdama (RPKM 18,8) i bubrezima (RPKM).
Aminokiselinska sekvenca
urediDužina polipeptidnog lanca je 325 aminokiselina, a molekulska težina 35.391 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MSLLRSLRVF | LVARTGSYPA | GSLLRQSPQP | RHTFYAGPRL | SASASSKELL | ||||
| MKLRRKTGYS | FVNCKKALET | CGGDLKQAEI | WLHKEAQKEG | WSKAAKLQGR | ||||
| KTKEGLIGLL | QEGNTTVLVE | VNCETDFVSR | NLKFQLLVQQ | VALGTMMHCQ | ||||
| TLKDQPSAYS | KGFLNSSELS | GLPAGPDREG | SLKDQLALAI | GKLGENMILK | ||||
| RAAWVKVPSG | FYVGSYVHGA | MQSPSLHKLV | LGKYGALVIC | ETSEQKTNLE | ||||
| DVGRRLGQHV | VGMAPLSVGS | LDDEPGGEAE | TKMLSQPYLL | DPSITLGQYV | ||||
| QPQGVSVVDF | VRFECGEGEE | AAETE |
Reference
uredi- ^ a b c GRCh38: Ensembl release 89: ENSG00000123297 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040521 - 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.
- ^ Xin H, Woriax V, Burkhart W, Spremulli LL (Aug 1995). "Cloning and expression of mitochondrial translational elongation factor Ts from bovine and human liver". J Biol Chem. 270 (29): 17243–9. doi:10.1074/jbc.270.29.17243. PMID 7615523.
- ^ "Entrez Gene: TSFM Ts translation elongation factor, mitochondrial".
- ^ "UniProt, P43897". Pristupljeno 14. 8. 2021.
Dopunska literatura
uredi- Smeitink JA, Elpeleg O, Antonicka H, et al. (2006). "Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs". Am. J. Hum. Genet. 79 (5): 869–77. doi:10.1086/508434. PMC 1698578. PMID 17033963.
- Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA (2006). "The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1". Hum. Mol. Genet. 15 (11): 1835–46. doi:10.1093/hmg/ddl106. PMID 16632485.
- Maksimov VV, Arman IP, Tarantul VZ (2006). "[Identification of the proteins interacting with neuroprotective peptide humanin in a yeast two-hybrid system]". Genetika. 42 (2): 274–7. PMID 16583711.
- 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.
- 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.
- Vernon JL, Burr PC, Wiley JE, Farwell MA (2000). "Assignment of the mitochondrial translation elongation factor Ts gene (TSFM) to human chromosome 12 bands q13→q14 by in situ hybridization and with somatic cell hybrids". Cytogenet. Cell Genet. 89 (3–4): 145–6. doi:10.1159/000015596. PMID 10965106. S2CID 201991811.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Benkowski LA, Takemoto C, Ott G, et al. (1996). "Interaction of mitochondrial elongation factors Tu.Ts with aminoacyl-tRNA". Nucleic Acids Symp. Ser. (33): 163–6. PMID 8643359.
Vanjski linkovi
uredi- TSFM lokacija ljudskog genoma UCSC Genome Browser.
TSFM detalji ljudskog genoma u UCSC Genome Browser.