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54517 PUS7

54517

PUS7

pseudouridine synthase 7

protein-coding

Homo sapiens

基因描述

Type Description
Definition pseudouridine synthase 7

研究结论

Date Results Publications
2020-06-13 10:23:00 Pseudouridine synthase 7 is a nuclear protein involved in stem cell development and intellectual disabilities, and is a novel interactor of SIRT1. The binding regions are predicted and analyzed based on molecular docking studies. The direct interaction occurs between SIRT1 and PUS7, as evidenced by pull-down studies and surface plasmon resonance (SPR) assay. 31451225
2019-03-30 11:53:00 Our results confirm that PUS7 is a bona fide Mendelian disease gene and expand the list of human diseases caused by impaired pseudouridylation. 30778726
2010-06-30 22:06:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614

名称对应

Type IDs
Gene
UniProtKB-ID: PUS7_HUMAN, B3KRB2_HUMAN, B3KY42_HUMAN
UniprotKB: Q96PZ0, B3KRB2, B3KY42
UniParc: UPI00004A29AD, UPI00001D483E, UPI00003E2868, UPI0000E0AF5C
EMBL: BC011396, AC073138, AK000492, AC074013, AB067484, AK091283, AK128629, BC005209
Ensembl: ENSG00000091127
KO: hsa:54517
Nucleutide sequences
EMBL-CDS: AAS07447.1, BAB67790.1, AAH11396.2, BAA91203.1, AAH05209.3, BAG52324.1, BAG54704.1
Ensembl_TRS: ENST00000356362, ENST00000469408
Protein sequencees
Ensembl_PRO: ENSP00000417402, ENSP00000348722
RefSeq: XP_011514638.1, XP_005250519.1, NP_061915.2, NP_001305092.1, XP_016867856.1, NP_001305093.1, XP_016867857.1
Others
UniRef100: UniRef100_Q96PZ0, UniRef100_B3KRB2, UniRef100_B3KY42
UniRef90: UniRef90_Q96PZ0
UniRef50: UniRef50_Q96PZ0
UniGene: Hs.520619
CCDS: CCDS34725.1

全选

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