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84520 GON7

84520

GON7

GON7 subunit of KEOPS complex

protein-coding

Homo sapiens

基因描述

Type Description
Definition GON7 subunit of KEOPS complex

研究结论

Date Results Publications
2020-01-11 10:50:00 Mutations in GON7, encoding the fifth KEOPS subunit, lead to a milder form of Galloway-Mowat syndrome (GAMOS), an autosomal recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. The structure and cellular characterization of GON7 suggest its involvement in the cellular stability and quaternary arrangement of the KEOPS complex. 31481669

名称对应

Type IDs
Synonymous C14orf142, PNAS-127
Gene
UniProtKB-ID: GON7_HUMAN
UniprotKB: Q9BXV9
UniParc: UPI00001FDA7D
EMBL: AF277185, CR613456, BC109390, BC065216, BC107429, CR590920, BC021733
Ensembl: ENSG00000275619, ENSG00000170270
KO: hsa:84520
Nucleutide sequences
EMBL-CDS: AAK07544.1, AAI09391.2, AAH21733.2, AAH65216.1, AAI07430.2
Gene_ORFName: C14orf142
Ensembl_TRS: ENST00000306954, ENST00000621279
Protein sequencees
Ensembl_PRO: ENSP00000478863, ENSP00000306320
RefSeq: NP_115879.2
Others
UniRef100: UniRef100_Q9BXV9
UniRef90: UniRef90_Q9BXV9
UniRef50: UniRef50_Q9BXV9
UniGene: Hs.20142
CCDS: CCDS41981.1

全选

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