TRMU

TRMU
Identifikatori
Aliasi	TRMU
Vanjski ID-jevi	OMIM: 610230 MGI: 1919276 HomoloGene: 5589 GeneCards: TRMU
Lokacija gena (čovjek)
Hrom.	Hromosom 22 (čovjek)
Kraj	46,357,340 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	85,781,595 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje sa RNK; • aktivnost sa transferazom; • tRNA binding; • nucleotide binding; • sulfurtransferase activity; • ATP binding; • GO:0102674, GO:0102675 methyltransferase activity;
Ćelijska komponenta	• mitohondrija; • nukleoplazma;
Biološki proces	• tRNA wobble position uridine thiolation; • mitochondrial tRNA thio-modification; • tRNA processing; • Metilacija;
	Izvori:Amigo / QuickGO
Ortolozi
	55687
	72026
	ENSG00000100416
	ENSMUSG00000022386
	O75648; Q2PPL5
	Q9DAT5
NM_001008569; NM_001008571; NM_001282782; NM_001282783; NM_001282784;
	NM_001282785; NM_018006
	NM_028063
NP_001269711; NP_001269712; NP_001269713; NP_001269714; NP_060476;
	NP_001269711.1
	NP_082339
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Mitohondrijska tRNK-specifična 2-tiouridilaza 1 jest enzim koji je kod ljudi kodiran genom TRMU sa hromosoma 22.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 421 aminokiselina, a molekulska težina 47.745 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
MQALRHVVCA	LSGGVDSAVA	ALLLRRRGYQ	VTGVFMKNWD	SLDEHGVCTA
DKDCEDAYRV	CQILDIPFHQ	VSYVKEYWND	VFSDFLNEYE	KGRTPNPDIV
CNKHIKFSCF	FHYAVDNLGA	DAIATGHYAR	TSLEDEEVFE	QKHVKKPEGL
FRNRFEVRNA	VKLLQAADSF	KDQTFFLSQV	SQDALRRTIF	PLGGLTKEFV
KKIAAENRLH	HVLQKKESMG	MCFIGKRNFE	HFLLQYLQPR	PGHFISIEDN
KVLGTHKGWF	LYTLGQRANI	GGLREPWYVV	EKDSVKGDVF	VAPRTDHPAL
YRDLLRTSRV	HWIAEEPPAA	LVRDKMMECH	FRFRHQMALV	PCVLTLNQDG
TVWVTAVQAV	RALATGQFAV	FYKGDECLGS	GKILRLGPSA	YTLQKGQRRA
GMATESPSDS	PEDGPGLSPL	L

Funkcija

Ovaj gen je član porodice trmU. Kodira enzim koji modifikuje tRNK-specifičnu za mitohondrije koja je neophodna za 2-tio modifikaciju 5-taurinometil-2-tiouridinske tRNK-Lys na poziciji kolebljivog antikodona.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100416 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022386 - 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.
^ Yan Q, Guan MX (Jan 2004). "Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase". Biochim Biophys Acta. 1676 (2): 119–26. doi:10.1016/j.bbaexp.2003.11.010. PMID 14746906.
^ ^a ^b ^c "Entrez Gene: TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase".

Dopunska literatura

Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
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.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
Umeda N, Suzuki T, Yukawa M, et al. (2005). "Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases". J. Biol. Chem. 280 (2): 1613–24. doi:10.1074/jbc.M409306200. PMID 15509579.
Yan Q, Li X, Faye G, Guan MX (2005). "Mutations in MTO2 Related to tRNA Modification Impair Mitochondrial Gene Expression and Protein Synthesis in the Presence of a Paromomycin Resistance Mutation in Mitochondrial 15 S rRNA". J. Biol. Chem. 280 (32): 29151–7. doi:10.1074/jbc.M504247200. PMC 2905382. PMID 15944150.
Oh JH, Yang JO, Hahn Y, et al. (2006). "Transcriptome analysis of human gastric cancer". Mamm. Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
Yan Q, Bykhovskaya Y, Li R, et al. (2006). "Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations". Biochem. Biophys. Res. Commun. 342 (4): 1130–6. doi:10.1016/j.bbrc.2006.02.078. PMID 16513084.
Guan MX, Yan Q, Li X, et al. (2006). "Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations". Am. J. Hum. Genet. 79 (2): 291–302. doi:10.1086/506389. PMC 1559489. PMID 16826519.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100416 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022386 - 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.

[pmid14746906-5] Yan Q, Guan MX (Jan 2004). "Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase". Biochim Biophys Acta. 1676 (2): 119–26. doi:10.1016/j.bbaexp.2003.11.010. PMID 14746906.

[entrez-6] "Entrez Gene: TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase".

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