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56270 WDR45B

56270

WDR45B

WD repeat domain 45B

protein-coding

Homo sapiens

基因描述

Type Description
Definition WD repeat domain 45B

研究结论

Date Results Publications
2020-08-22 15:28:00 Multi-site-mediated entwining of the linear WIR-motif around WIPI beta-propellers for autophagy. 32483132
2019-08-03 10:08:00 WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of 2 large cohorts of affected individuals. In this report we present 6 individuals from 3 unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in 1 family and c.673C>T (p.R225*) in 2 families 28503735
2018-12-22 11:40:00 WIPI3 and WIPI4 beta-propellers have roles as scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy 28561066

名称对应

Type IDs
Synonymous NEDSBAS, WDR45L, WIPI-3, WIPI3
Gene
UniProtKB-ID: WIPI3_HUMAN
UniprotKB: Q5MNZ6
UniParc: UPI000020051D
EMBL: AM182326, AC124283, AF091083, CR456770, AY691427, KX434429, CH471099
Ensembl: ENSG00000141580
KO: hsa:56270
Nucleutide sequences
EMBL-CDS: ASF79340.1, CAJ57996.1, EAW89812.1, AAC72952.1, CAG33051.1, AAV80763.1, EAW89810.1
Ensembl_TRS: ENST00000392325
Protein sequencees
Ensembl_PRO: ENSP00000376139
RefSeq: XP_005256434.1, XP_024306604.1, XP_016880351.1, NP_062559.2, XP_016880352.1
Others
UniRef100: UniRef100_Q5MNZ6
UniRef90: UniRef90_Q5MNZ6
UniRef50: UniRef50_Q5MNZ6
UniGene: Hs.132161
CCDS: CCDS11815.2

全选

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研究热度

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