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25839 COG4

25839

COG4

component of oligomeric golgi complex 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition component of oligomeric golgi complex 4

研究结论

Date Results Publications
2019-05-18 11:41:00 A specific heterozygous COG4 substitution as the molecular basis of Saul-Wilson syndrome. 30290151
2019-02-02 12:26:00 TMEM-COG4, COG7 and COG8 subunits restore endogenous COG localization to the Golgi membranes 29467253
2010-01-21 00:00:00 A novel R729W missense mutation in COG4 was associated with the congenital disorder of glycosylation type II. 19494034
2010-01-21 00:00:00 The 1.9 A crystal structure of a Cog4 C-terminal fragment, was determined. Arg 729 is found to occupy a key position at the center of a salt bridge network, thereby stabilizing Cog4's small C-terminal domain. 19651599
2010-01-21 00:00:00 Study shows that the SM protein, Sly1, interacts directly with the conserved oligomeric Golgi (COG) tethering complex; Sly1-COG interaction is mediated by the Cog4 subunit, which also interacts with Syntaxin 5 through a different binding site. 19536132

名称对应

Type IDs
Synonymous CDG2J, COD1, SWILS
Gene
UniProtKB-ID: COG4_HUMAN, J3KNI1_HUMAN, A0A0A0MS45_HUMAN, Q8N8L9_HUMAN
UniprotKB: Q9H9E3, J3KNI1, A0A0A0MS45, Q8N8L9
UniParc: UPI0000072516, UPI000059D3B0, UPI000013C77A, UPI0000366B5D, UPI0001E5E830, UPI000059D3B1
EMBL: BC006306, BC013347, BC072438, AK297557, AB088369, AK026435, AK096557, AC106804, AK022874, BC000796, AL050101
Ensembl: ENSG00000103051
KO: hsa:25839
Nucleutide sequences
EMBL-CDS: AAH13347.2, AAH06306.2, AAH72438.1, AAH00796.1, CAB43272.1, BAG59950.1, BAB15483.1, BAC05682.1, BAB14286.1, BAC04816.1
Ensembl_TRS: ENST00000482252, ENST00000323786, ENST00000393612
Protein sequencees
Ensembl_PRO: ENSP00000432802, ENSP00000315775, ENSP00000377236
RefSeq: NP_056201.2, XP_024305992.1, NP_001352355.1, NP_001182068.2
Others
UniRef100: UniRef100_A0A0A0MS45, UniRef100_Q9H9E3, UniRef100_Q8N8L9
UniRef90: UniRef90_Q9H9E3, UniRef90_A0A0A0MS45
UniRef50: UniRef50_Q9H9E3
UniGene: Hs.208680

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