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348180 CTU2

348180

CTU2

cytosolic thiouridylase subunit 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition cytosolic thiouridylase subunit 2

研究结论

Date Results Publications
2020-03-14 11:36:00 Our data establish a recognizable CTU2-linked autosomal recessive syndrome in humans characterized by defective thiolation of the wobble uridine. The potential deleterious consequences for the translational efficiency and fidelity during development as a mechanism for pathogenicity represent an attractive target of future investigations. 31301155
2009-03-27 14:00:00 Identifies the product of this gene as being involved in tRNA modification. 19017811

名称对应

Type IDs
Synonymous C16orf84, MFRG, NCS2, UPF0432
Gene
UniProtKB-ID: CTU2_HUMAN, H3BSW6_HUMAN
UniprotKB: Q2VPK5, H3BSW6
UniParc: UPI0000251EAE, UPI0000DBEBBA, UPI00004EC06A, UPI000059D3D6
EMBL: AC138028, BC021829, BC121805, BC157881, BC108659, BC080540, BC125269
Ensembl: ENSG00000174177
KO: hsa:348180
Nucleutide sequences
EMBL-CDS: AAI57882.1, AAH80540.1, AAI21806.1, AAI25270.1, AAI08660.1
Ensembl_TRS: ENST00000453996, ENST00000312060, ENST00000567949
Protein sequencees
Ensembl_PRO: ENSP00000308617, ENSP00000388320, ENSP00000456908
RefSeq: NP_001012780.1, NP_001305442.1, XP_016878699.1, NP_001012777.1, NP_001305436.1
Others
UniRef100: UniRef100_H3BSW6, UniRef100_Q2VPK5
UniRef90: UniRef90_Q2VPK5
UniRef50: UniRef50_Q2VPK5
UniGene: Hs.592074
CCDS: CCDS45545.1, CCDS32506.1

全选

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研究热度

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