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79650 USB1

79650

USB1

U6 snRNA biogenesis phosphodiesterase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition U6 snRNA biogenesis phosphodiesterase 1

研究结论

Date Results Publications
2020-03-21 12:06:00 Here we investigate the molecular basis for the evolution of Usb1 CPDase activity. We examine the structure and function of Usb1 from Kluyveromyces marxianus, which shares 25 and 19% sequence identity to the S. cerevisiae and Homo sapiens orthologs of Usb1, respectively 31832688
2019-07-06 10:30:00 Data show that U6 snRNA phosphodiesterase (Usb1) removes 3' adenosines with 20-fold greater efficiency than uridines. 30215753
2019-05-25 12:17:00 A novel homozygous deletion of a 1-bp (c.161delC, p.P54RfsX60) in the C16orf57gene, was presumed to be causative of poikiloderma with neutropenia. The patient's asymptomatic consanguineous parents were heterozygotes for this mutation. 29797650
2018-02-17 10:35:00 this paper describes USB1 mutations characterized in four Moroccan patients out of three unrelated consanguinous families 28353165
2017-12-30 12:50:00 Data indicate the enzymatic activities and structures of yeast and human U6 RNA processing enzyme Usb1. 28887445

名称对应

Type IDs
Synonymous C16orf57, HVSL1, Mpn1, PN, hUsb1
Gene
UniProtKB-ID: USB1_HUMAN, H3BNM8_HUMAN, H3BN52_HUMAN, A0A024R6V6_HUMAN
UniprotKB: Q9BQ65, H3BNM8, H3BN52, A0A024R6V6
UniParc: UPI00001FF2DC, UPI000041D9ED, UPI0000E02B7A, UPI0002466F7B, UPI00000720EC
EMBL: AK023216, BC007774, BC010099, AK301494, BC004415, AC012182, AK303121, BC006291, BC021554, CH471092, AC010543
Ensembl: ENSG00000103005
KO: hsa:79650
Nucleutide sequences
EMBL-CDS: BAG64227.1, AAH06291.1, AAH10099.1, BAB14469.1, AAH07774.1, AAH21554.1, AAH04415.1, BAG63005.1, EAW82962.1, EAW82964.1
Gene_ORFName: hCG_16493
Ensembl_TRS: ENST00000219281, ENST00000539737, ENST00000423271, ENST00000561743, ENST00000563149
Protein sequencees
Ensembl_PRO: ENSP00000219281, ENSP00000446143, ENSP00000409792, ENSP00000454928, ENSP00000454692
RefSeq: NP_078874.2, NP_001182231.1, NP_001191840.1, NP_001317498.1, NP_001317497.1
Others
UniRef100: UniRef100_Q9BQ65, UniRef100_H3BN52
UniRef90: UniRef90_H3BN52, UniRef90_Q9BQ65
UniRef50: UniRef50_Q9BQ65, UniRef50_Q9BQ65-3
UniGene: Hs.408702
CCDS: CCDS55997.1, CCDS55998.1, CCDS10791.1

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