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124997 WDR81

124997

WDR81

WD repeat domain 81

protein-coding

Homo sapiens

基因描述

Type Description
Definition WD repeat domain 81

研究结论

Date Results Publications
2017-10-21 12:29:00 suggest a role for the WDR81-WDR91 complex in the fusion of endolysosomal compartments and the absence of WDR81 leads to impaired receptor trafficking and degradation 27126989
2017-10-07 11:02:00 The WDR81 interacts with LC3C through canonical LC3-interacting regions in the BEACH domain, promoting LC3C recruitment to ubiquitinated proteins. 28404643
2017-10-07 11:00:00 The results of this study suggest that the WDR81 might have a role in mitosis that is conserved between Drosophila and humans. 28969387
2017-07-22 11:48:00 Recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. 28556411
2016-10-29 11:01:00 WDR81 mutation is associated with dysequilibrium syndrome type 2 and sensorineural hearing loss. 26437881

名称对应

Type IDs
Synonymous CAMRQ2, HYC3, PPP1R166, SORF-2
Gene
UniProtKB-ID: WDR81_HUMAN, Q24JR4_HUMAN
UniprotKB: Q562E7, Q24JR4
UniParc: UPI00006E2227, UPI0000366B87, UPI0001914EB1, UPI00006DE719, UPI00026C4653, UPI000198C81B, UPI0001881A85
EMBL: AK127946, AK123896, AK298567, BC114568, AK074111, AK091136, BC114519, AL834379, BC092513, AC130343
Ensembl: ENSG00000167716, ENSG00000276021
KO: hsa:124997
Nucleutide sequences
EMBL-CDS: BAH12815.1, BAB84937.1, AAI14569.1, BAC03593.1, AAH92513.1, BAG54603.1, CAD39042.1, BAG53978.1, AAI14520.1
Ensembl_TRS: ENST00000409644, ENST00000613616, ENST00000437219, ENST00000611758, ENST00000613381, ENST00000309182, ENST00000419248
Protein sequencees
Ensembl_PRO: ENSP00000391074, ENSP00000480442, ENSP00000407845, ENSP00000312074, ENSP00000480101, ENSP00000477991, ENSP00000386609
RefSeq: XP_016879673.1, NP_689561.2, NP_001157283.1, NP_001157281.1, XP_011521953.1, NP_001157145.1
Others
UniRef100: UniRef100_Q562E7, UniRef100_Q24JR4
UniRef90: UniRef90_A0A2I3G0I2, UniRef90_Q562E7
UniRef50: UniRef50_Q562E7, UniRef50_Q562E7-5
UniGene: Hs.234572
CCDS: CCDS54061.1, CCDS54063.1, CCDS54062.1

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