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129285 PPP1R21

129285

PPP1R21

protein phosphatase 1 regulatory subunit 21

protein-coding

Homo sapiens

基因描述

Type Description
Definition protein phosphatase 1 regulatory subunit 21

研究结论

Date Results Publications
2020-03-28 10:29:00 a role of PPP1R21 within the endosomal sorting process or endosome maturation pathway, is reported. 30520571
2019-11-02 11:26:00 Although PPP1R21 has not yet been linked to human disease, the consistency in the phenotype of individuals from unrelated families, the nature of the variants which result in truncated proteins, and the expected vital role for PPP1R21 in cellular function, all support that PPP1R21 is a novel disease-associated gene responsible for the phenotype observed in these individuals 29808498

名称对应

Type IDs
Synonymous CCDC128, KLRAQ1
Gene
UniProtKB-ID: PPR21_HUMAN
UniprotKB: Q6ZMI0
UniParc: UPI0000074055, UPI0000662189, UPI000004471C, UPI000189A766, UPI000015C523
EMBL: BC143466, BC117279, BC040721, AK172753, CH471053, AK172762, BC011978, AY134855, BC143463, BC111059, AC093635
Ensembl: ENSG00000162869
KO: hsa:129285
Nucleutide sequences
EMBL-CDS: AAI43467.1, AAX93161.1, BAD18739.1, AAI17280.1, AAI43464.1, AAH40721.1, AAI11060.1, AAH11978.2, AAN08625.1, BAD18745.1, EAX00200.1
Ensembl_TRS: ENST00000449090, ENST00000294952, ENST00000281394
Protein sequencees
Ensembl_PRO: ENSP00000415696, ENSP00000281394, ENSP00000294952
RefSeq: XP_016858791.1, NP_001180404.1, NP_694539.1, XP_016858790.1, NP_001129101.1
Others
UniRef100: UniRef100_Q6ZMI0
UniRef90: UniRef90_Q6ZMI0
UniRef50: UniRef50_Q6ZMI0
UniGene: Hs.654619
CCDS: CCDS54358.1, CCDS46278.1, CCDS1839.1

全选

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