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79415 CYBC1

79415

CYBC1

cytochrome b-245 chaperone 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition cytochrome b-245 chaperone 1

研究结论

Date Results Publications
2020-08-15 18:45:00 these results indicated that Eros acts as a chaperone not only for NADPH oxidase, but also for P2X7, and contributes to the innate immune reaction 31862710
2020-02-29 12:11:00 this study shows that the function of is fully conserved between human and mouse, and that homozygous mutations in Eduanyu1670 underlie a novel sixth cause of chronic granulomatous disease 30312704
2019-01-12 11:05:00 CYBC1 deficiency results in chronic granulomatous disease characterized by colitis and a distinct profile of infections indicative of macrophage dysfunction. 30361506

名称对应

Type IDs
Synonymous C17orf62, Eros
Gene
UniProtKB-ID: CYBC1_HUMAN, A0A024R8W9_HUMAN
UniprotKB: Q9BQA9, A0A024R8W9
UniParc: UPI000040A547, UPI000006FDD3
EMBL: AK054876, BC004171, AC132938, CH471099, BC003595
Ensembl: ENSG00000178927
KO: hsa:79415
Nucleutide sequences
EMBL-CDS: BAB70818.1, EAW89786.1, AAH04171.1, AAH03595.1, EAW89776.1, EAW89779.1, EAW89785.1
Gene_ORFName: hCG_30383
Ensembl_TRS: ENST00000585064, ENST00000306645, ENST00000434650, ENST00000578919, ENST00000437807, ENST00000577436, ENST00000577732, ENST00000585080
Protein sequencees
Ensembl_PRO: ENSP00000462529, ENSP00000307765, ENSP00000463846, ENSP00000464633, ENSP00000464080, ENSP00000401626, ENSP00000388909, ENSP00000463228
RefSeq: XP_011521908.1, NP_001093877.1, XP_016880562.1, NP_001180583.1, NP_001028218.1, XP_016880566.1, NP_001093878.1, XP_016880567.1, XP_016880563.1, NP_001180586.1, XP_016880565.1, XP_006722356.1, NP_001180584.1, NP_001180582.1
Others
UniRef100: UniRef100_Q9BQA9
UniRef90: UniRef90_Q9BQA9
UniRef50: UniRef50_Q9BQA9
UniGene: Hs.163113
CCDS: CCDS45817.1, CCDS32776.1

全选

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