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10283 CWC27

10283

CWC27

CWC27 spliceosome associated protein homolog

protein-coding

Homo sapiens

基因描述

Type Description
Definition CWC27 spliceosome associated protein homolog

研究结论

Date Results Publications
2020-08-22 15:26:00 Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes. 32329775
2017-07-29 12:41:00 CWC27 overexpression is associated with Bladder Cancer. 27206850
2017-04-29 10:13:00 By whole-exome sequencing, recessive protein-truncating mutations in CWC27 were found in seven unrelated families that show a range of clinical phenotypes, including retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurologic defects. 28285769
2015-08-15 10:29:00 The crystal structure of a relatively protease-resistant N-terminal fragment of human Cwc27 containing the cyclophilin-type peptidyl-prolyl cis-trans isomerase domain was determined at 2.0 A resolution. 25478830
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
Synonymous NY-CO-10, RPSKA, SDCCAG-10, SDCCAG10
Gene
UniProtKB-ID: CWC27_HUMAN, D6REK3_HUMAN
UniprotKB: Q6UX04, D6REK3
UniParc: UPI0000E095BB, UPI0000048ECC, UPI00016277F0
EMBL: AC008898, CH471137, AF039693, AY358569, AC109465, AC092354, AF039692, BC012117
Ensembl: ENSG00000153015
KO: hsa:10283
Nucleutide sequences
EMBL-CDS: AAQ88932.1, AAC18042.1, AAH12117.1, AAC18041.1, EAW51365.1
Gene_ORFName: UNQ438/PRO871
Ensembl_TRS: ENST00000381070, ENST00000508024
Protein sequencees
Ensembl_PRO: ENSP00000370460, ENSP00000426802
RefSeq: XP_011541397.2, NP_001284574.1, NP_001284573.1, XP_011541398.1, NP_001351407.1, NP_001304929.1, NP_005860.2
Others
UniRef100: UniRef100_Q6UX04, UniRef100_D6REK3
UniRef90: UniRef90_Q6UX04, UniRef90_D6REK3
UniRef50: UniRef50_A0A4W4FG64, UniRef50_Q6UX04
UniGene: Hs.371372
CCDS: CCDS3982.2

全选

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