PUS1

PUS1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4IQM, 4ITS, 4J37, 4NZ6, 4NZ7
Identifikatori
Aliasi	PUS1
Vanjski ID-jevi	OMIM: 608109 MGI: 1929237 HomoloGene: 5931 GeneCards: PUS1
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	131,945,896 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	110,928,525 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• pseudouridylate synthase activity; • isomerase activity; • vezivanje sa RNK; • pseudouridine synthase activity; • tRNA binding; • steroid receptor RNA activator RNA binding; • tRNA pseudouridine synthase activity;
Ćelijska komponenta	• mitochondrial matrix; • mitohondrija; • jedro;
Biološki proces	• GO:0016547 Editiranje RNK; • pseudouridine synthesis; • tRNA processing; • mitochondrial tRNA pseudouridine synthesis; • tRNA pseudouridine synthesis; • mRNA pseudouridine synthesis;
	Izvori:Amigo / QuickGO
Ortolozi
	80324
	56361
	ENSG00000177192
	ENSMUSG00000029507
	Q9Y606
	Q9WU56
	NM_001002019; NM_001002020; NM_025215
NM_001025561; NM_001025562; NM_019700; NM_001347390; NM_001359218;
	NM_001359219
	NP_001002019; NP_001002020; NP_079491
NP_001020732; NP_001020733; NP_001334319; NP_062674; NP_001346147;
	NP_001346148
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

tRNK pseudouridin-sintaza A je enzim koji je kod ljudi kodiran genom PUS1.^[5]^[6]

PUS1 pretvara uridin u pseudouridin, nakon što se jedan nukleotid ugradi u RNK. Pseudouridin može imati funkcionalnu ulogu u tRNK i može pomoći u reakciji prenosa peptidila rRNK (prema OMIM). Mutacije u genu PUS1 povezane su sa mitohondrijskom miopatijom i sideroblastnom anemijom.^[7]^[8]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 427 aminokiselina, a molekulska težina 47.470 Da.^[9]

10	20	30	40	50
MGLQLRALLG	AFGRWTLRLG	PRPSCSPRMA	GNAEPPPAGA	ACPQDRRSCS
GRAGGDRVWE	DGEHPAKKLK	SGGDEERREK	PPKRKIVLLM	AYSGKGYHGM
QRNVGSSQFK	TIEDDLVSAL	VRSGCIPENH	GEDMRKMSFQ	RCARTDKGVS
AAGQVVSLKV	WLIDDILEKI	NSHLPSHIRI	LGLKRVTGGF	NSKNRCDART
YCYLLPTFAF	AHKDRDVQDE	TYRLSAETLQ	QVNRLLACYK	GTHNFHNFTS
QKGPQDPSAC	RYILEMYCEE	PFVREGLEFA	VIRVKGQSFM	MHQIRKMVGL
VVAIVKGYAP	ESVLERSWGT	EKVDVPKAPG	LGLVLERVHF	EKYNQRFGND
GLHEPLDWAQ	EEGKVAAFKE	EHIYPTIIGT	ERDERSMAQW	LSTLPIHNFS
ATALTAGGTG	AKVPSPLEGS	EGDGDTD

Simboli

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

Također pogledajte

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000177192 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029507 - 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.
^ Chen J, Patton JR (mart 1999). "Cloning and characterization of a mammalian pseudouridine synthase". RNA. 5 (3): 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.
^ "Entrez Gene: PUS1 pseudouridylate synthase 1".
^ Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (2009). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". BMJ Case Reports. 2009: bcr0520091889. doi:10.1136/bcr.05.2009.1889. PMC 3030164. PMID 21686963.
^ Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (juni 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.
^ "UniProt, Q9Y606". Pristupljeno 13. 8. 2021.

Dopunska literatura

Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (juni 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.
Wan D, Gong Y, Qin W, Zhang P, Li J, Wei L, et al. (novembar 2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proceedings of the National Academy of Sciences of the United States of America. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi:10.1073/pnas.0404089101. PMC 524842. PMID 15498874.
Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N (maj 2005). "Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation". The Journal of Biological Chemistry. 280 (20): 19823–8. doi:10.1074/jbc.M500216200. PMID 15772074.
Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (oktobar 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (mart 2007). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". Journal of Medical Genetics. 44 (3): 173–80. doi:10.1136/jmg.2006.045252. PMC 2598032. PMID 17056637.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (novembar 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000177192 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029507 - 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.

[pmid10094309-5] Chen J, Patton JR (mart 1999). "Cloning and characterization of a mammalian pseudouridine synthase". RNA. 5 (3): 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.

[entrez-6] "Entrez Gene: PUS1 pseudouridylate synthase 1".

[7] Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M (2009). "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". BMJ Case Reports. 2009: bcr0520091889. doi:10.1136/bcr.05.2009.1889. PMC 3030164. PMID 21686963.

[8] Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (juni 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics. 74 (6): 1303–8. doi:10.1086/421530. PMC 1182096. PMID 15108122.

[UniProt-9] "UniProt, Q9Y606". Pristupljeno 13. 8. 2021.

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