SAMM50

SAMM50
Identifikatori
Aliasi	SAMM50
Vanjski ID-jevi	OMIM: 612058 MGI: 1915903 HomoloGene: 41034 GeneCards: SAMM50
Lokacija gena (čovjek)
Hrom.	Hromosom 22 (čovjek)
Kraj	44,010,531 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	84,101,468 bp
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
	25813
	68653
	ENSG00000100347
	ENSMUSG00000022437
	Q9Y512
	Q8BGH2
	NM_015380
	NM_178614
	NP_056195
	NP_848729
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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

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

^ ^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

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100347 - Ensembl, maj 2017

[refGRCm38Ensembl-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.

[pmid15644312-5] 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.

[entrez-6] "Entrez Gene: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)".

[5]

[6]

[1]

[2]

[3]

[4]