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22827 PUF60

22827

PUF60

poly(U) binding splicing factor 60

protein-coding

Homo sapiens

基因描述

Type Description
Definition poly(U) binding splicing factor 60

研究结论

Date Results Publications
2021-01-09 13:34:00 Unraveling the mechanism of recognition of the 3' splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60. 33253191
2019-08-03 10:32:00 PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RNA recognition motif. 29788428
2019-07-27 11:49:00 3 Verheij syndrome patients with de novo pathogenic variants in PUF60 are described. Mutations in gene PUF60 were analyzed. 28074499
2019-06-29 11:18:00 PUF60 is involved in: 1) up-regulation of core promoter activity through its interaction with transcription factor TCF7L2, 2) promotion of 3.5 kb RNA degradation and 3) suppression of 3.5 kb RNA splicing. 28993636
2018-10-20 10:31:00 Anti-PUF60 antibodies were nonspecific for myositis, since they could be detected in other rheumatic diseases. 29541951

名称对应

Type IDs
Synonymous FIR, RoBPI, SIAHBP1, VRJS
Gene
UniProtKB-ID: PUF60_HUMAN
UniprotKB: Q9UHX1
UniParc: UPI000046968A, UPI00000713CF, UPI000020FEBD, UPI000006E1FE, UPI00000719DC, UPI0000073612
EMBL: BC011265, AF190744, CH471162, BC009734, BC008875, CR457143, U51586, AF114818, BC011979, AF217197, AK292373
Ensembl: ENSG00000274081, ENSG00000179950
KO: hsa:22827
Nucleutide sequences
EMBL-CDS: EAW82187.1, AAF23589.1, AAH09734.1, AAF27522.2, AAH11265.1, CAG33424.1, AAH11979.1, AAF05605.1, AAH08875.1, AAB41656.1, EAW82189.1, BAF85062.1
Ensembl_TRS: ENST00000313352, ENST00000453551, ENST00000620341, ENST00000633206, ENST00000456095, ENST00000620953, ENST00000526683, ENST00000612237, ENST00000349157, ENST00000632444, ENST00000527197
Protein sequencees
Ensembl_PRO: ENSP00000402953, ENSP00000478209, ENSP00000322016, ENSP00000487945, ENSP00000434359, ENSP00000431960, ENSP00000478495, ENSP00000484860, ENSP00000487930, ENSP00000322036, ENSP00000395417
RefSeq: NP_001258028.1, XP_016868729.1, NP_510965.1, XP_016868728.1, XP_016868725.1, NP_001258026.1, NP_055096.2, NP_001349826.1, NP_001258025.1, NP_001258029.1, NP_001349825.1, NP_001129505.1, XP_016868723.1, NP_001349824.1, XP_016868724.1, NP_001258027.1
Others
UniRef100: UniRef100_Q9UHX1
UniRef90: UniRef90_Q9UHX1
UniRef50: UniRef50_Q9UHX1
UniGene: Hs.521924
CCDS: CCDS47934.1, CCDS47933.1, CCDS47935.1, CCDS59515.1, CCDS59514.1, CCDS59516.1

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