SAMM50
Homolog komponente 50 sortirajućeg i sklapajućeg mehanizma jest protein koji je kod ljudi kodiran genom SAMM50 sa hromosoma 22.[5][6]
Aminokiselinska sekvenca uredi
Dužina polipeptidnog lanca je 469 aminokiselina, a molekulska težina 51.976 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MGTVHARSLE | PLPSSGPDFG | GLGEEAEFVE | VEPEAKQEIL | ENKDVVVQHV | ||||
| HFDGLGRTKD | DIIICEIGDV | FKAKNLIEVM | RKSHEAREKL | LRLGIFRQVD | ||||
| VLIDTCQGDD | ALPNGLDVTF | EVTELRRLTG | SYNTMVGNNE | GSMVLGLKLP | ||||
| NLLGRAEKVT | FQFSYGTKET | SYGLSFFKPR | PGNFERNFSV | NLYKVTGQFP | ||||
| WSSLRETDRG | MSAEYSFPIW | KTSHTVKWEG | VWRELGCLSR | TASFAVRKES | ||||
| GHSLKSSLSH | AMVIDSRNSS | ILPRRGALLK | VNQELAGYTG | GDVSFIKEDF | ||||
| ELQLNKQLIF | DSVFSASFWG | GMLVPIGDKP | SSIADRFYLG | GPTSIRGFSM | ||||
| HSIGPQSEGD | YLGGEAYWAG | GLHLYTPLPF | RPGQGGFGEL | FRTHFFLNAG | ||||
| NLCNLNYGEG | PKAHIRKLAE | CIRWSYGAGI | VLRLGNIARL | ELNYCVPMGV | ||||
| QTGDRICDGV | QFGAGIRFL |
Klinički značaj uredi
Pomoću sekvenciranja egzoma, utvrđeno je da dvije varijante - P377A i V231I na genu SAMM50 imaju potencijalnu vezu sa fenotipom bolesti Ezre, 9-godišnjeg muškarca s epilepsijom, ESES-om, hemiplegijskom migrenom, egzokrinom insuficijencijom gušterače, CSID, općom apraksijom , razvojnim zaostajanjem. Historija je uključivala tortikolis, psihomotorne regresije, kolitis kao i nedostatak karnitina.
Reference uredi
- ^ a b c GRCh38: Ensembl release 89: ENSG00000100347 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022437 - 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.
- ^ Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT (Mar 2005). "Dissection of the mitochondrial import and assembly pathway for human Tom40". The Journal of Biological Chemistry. 280 (12): 11535–43. doi:10.1074/jbc.M413816200. PMID 15644312.
- ^ a b "Entrez Gene: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)".
Dopunska literatura uredi
- Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (May 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
- Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biology. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
- Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T (Jun 2007). "Conserved roles of Sam50 and metaxins in VDAC biogenesis". EMBO Reports. 8 (6): 576–82. doi:10.1038/sj.embor.7400982. PMC 2002532. PMID 17510655.
- Xie J, Marusich MF, Souda P, Whitelegge J, Capaldi RA (Jul 2007). "The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11". FEBS Letters. 581 (18): 3545–9. doi:10.1016/j.febslet.2007.06.052. PMID 17624330.