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51729 WBP11

51729

WBP11

WW domain binding protein 11

protein-coding

Homo sapiens

基因描述

Type Description
Definition WW domain binding protein 11

研究结论

Date Results Publications
2018-04-21 10:13:00 The WW domain belonging to polyglutamine tract-binding protein 1 (PQBP1) is of particular interest due to its direct involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C) correlates with the development of the disease. The mutant cannot bind to its natural ligand WBP11, which regulates mRNA processing 27456546
2010-01-21 00:00:00 SIPP1 is a positive regulator of pre-mRNA splicing that is regulated by nucleocytoplasmic shuttling 16162498

名称对应

Type IDs
Synonymous NPWBP, PPP1R165, SIPP1, WBP-11
Gene
UniProtKB-ID: WBP11_HUMAN, A0A024RAW9_HUMAN
UniprotKB: Q9Y2W2, A0A024RAW9
UniParc: UPI0000035FC2
EMBL: CH471094, AF118023, AB029309, BC023532, BC016441, BC001621
Ensembl: ENSG00000084463
KO: hsa:51729
Nucleutide sequences
EMBL-CDS: AAH01621.1, AAH16441.2, AAH23532.1, AAD30425.1, BAA88410.1, EAW96329.1, EAW96328.1
Gene_ORFName: hCG_24415
Ensembl_TRS: ENST00000261167
Protein sequencees
Ensembl_PRO: ENSP00000261167
RefSeq: NP_057396.1
Others
UniRef100: UniRef100_Q9Y2W2
UniRef90: UniRef90_Q9Y2W2
UniRef50: UniRef50_Q9Y2W2
UniGene: Hs.655138
CCDS: CCDS8666.1

全选

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