SAMM50

Homolog komponente 50 sortirajućeg i sklapajućeg mehanizma jest protein koji je kod ljudi kodiran genom SAMM50 sa hromosoma 22.^[5][6]

SAMM50
Identifikatori
Aliasi	SAMM50
Vanjski ID-jevi	OMIM: 612058 MGI: 1915903 HomoloGene: 41034 GeneCards: SAMM50
Lokacija gena (čovjek) Hrom. Hromosom 22 (čovjek)[1] Bend 22q13.31 Početak 43,955,442 bp[1] Kraj 44,010,531 bp[1]
Lokacija gena (miš) Hrom. Hromosom 15 (miš)[2] Bend 15|15 E2 Početak 84,076,442 bp[2] Kraj 84,101,468 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • GO:0001948, GO:0016582 vezivanje za proteine Ćelijska komponenta • citoplazma • integral component of membrane • mitochondrial inner membrane • outer membrane • mitochondrial outer membrane • Egzosom • membrana • mitohondrija • SAM complex Biološki proces • cristae formation • protein insertion into mitochondrial outer membrane • mitochondrial respiratory chain complex assembly Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	25813	68653
Ensembl	ENSG00000100347	ENSMUSG00000022437
UniProt	Q9Y512	Q8BGH2
RefSeq (mRNK)	NM_015380	NM_178614
RefSeq (bjelančevina)	NP_056195	NP_848729
Lokacija (UCSC)	Chr 22: 43.96 – 44.01 Mb	Chr 15: 84.08 – 84.1 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 469 aminokiselina, a molekulska težina 51.976 Da.^[6]

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

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

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

1. GRCh38: Ensembl release 89: ENSG00000100347 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022437 - Ensembl, maj 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)".

Dopunska literatura

• 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.