PUS1

PUS1
사용 가능한 구조
PDB	동원체 검색: PDBe RCSB
PDB ID 코드 목록
	4IQM, 4ITS, 4J37, 4NZ6, 4NZ7
식별자
다른 이름	PUS1, MLASA1, pseudouridylate synthase 1, pseudouridine synthase 1
외부 ID	OMIM: 608109 MGI: 1929237 HomoloGene: 5931 GeneCards: PUS1
유전자 위치 (인간)
염색체	12번 염색체
끝	131,945,896 bp
유전자 위치 (쥐)
염색체	5번 염색체 (쥐)
끝	110,928,525 bp
RNA 발현 패턴
	최상위 발현
	간오른엽; ; 비장; ; right adrenal gland; ; left adrenal gland; ; body of pancreas; ; body of stomach; ; 배의 피부; ; 림프절; ; 단핵구; ; 기댐핵;
	최상위 발현
	난황낭; ; primitive streak; ; 근위 세뇨관; ; 정낭; ; 입술; ; 모낭; ; 눈물샘; ; 샘창자; ; endocardial cushion; ; 콩팥;
	추가 참조 발현 데이터
	추가 참조 발현 데이터
유전자 온톨로지
분자 함수	pseudouridylate synthase activity; isomerase activity; RNA binding; pseudouridine synthase activity; tRNA binding; steroid receptor RNA activator RNA binding; tRNA pseudouridine synthase activity;
세포 성분	미토콘드리아 기질; 미토콘드리아; 세포핵;
생물학적 과정	RNA 편집; pseudouridine synthesis; tRNA processing; mitochondrial tRNA pseudouridine synthesis; tRNA pseudouridine synthesis; mRNA pseudouridine synthesis;
	출처: Amigo / QuickGO
동원체
	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
	위키데이터
인간 보기/편집	쥐 보기/편집

PUS1은 사람에서 슈도유리딘 생성효소 1을 암호화하고 있는 유전자이다.^[5]^[6]

슈도유리딘 생성효소 1은 뉴클레오타이드가 RNA에 통합된 후에 유리딘을 슈도유리딘으로 변환시킨다. 슈도유리딘은 tRNA에서 기능적 역할을 할 수 있고, rRNA의 펩티딜 전이반응을 도울 수 있다.^[6] PUS1 유전자 돌연변이는 미토콘드리아 근병증 및 철적혈모구빈혈과 관련이 있다.^[7]^[8]

같이 보기[편집]

각주[편집]

↑ ^가 ^나 ^다 GRCh38: Ensembl release 89: ENSG00000177192 - 앙상블, May 2017
↑ ^가 ^나 ^다 GRCm38: Ensembl release 89: ENSMUSG00000029507 - 앙상블, May 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 (March 1999). “Cloning and characterization of a mammalian pseudouridine synthase”. 《RNA》 5 (3): 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.
↑ ^가 ^나 “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 (June 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.

더 읽을거리[편집]

Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (June 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, 외. (November 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 (May 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 (October 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 (March 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 (November 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.

[refGRCh38Ensembl-1] 가 ^나 ^다 GRCh38: Ensembl release 89: ENSG00000177192 - 앙상블, May 2017

[refGRCm38Ensembl-2] 가 ^나 ^다 GRCm38: Ensembl release 89: ENSMUSG00000029507 - 앙상블, May 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 (March 1999). “Cloning and characterization of a mammalian pseudouridine synthase”. 《RNA》 5 (3): 409–19. doi:10.1017/S1355838299981591. PMC 1369769. PMID 10094309.

[entrez-6] 가 ^나 “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 (June 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.

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