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84317 CCDC115

84317

CCDC115

coiled-coil domain containing 115

protein-coding

Homo sapiens

基因描述

Type Description
Definition coiled-coil domain containing 115

研究结论

Date Results Publications
2021-01-02 12:51:00 Genetic screens reveal CCDC115 as a modulator of erythroid iron and heme trafficking. 32510613
2019-03-09 12:35:00 CCDC115 mutation is associated with Congenital disorders of glycosylation causing liver disease. 29759592
2018-12-22 10:03:00 CCDC115 is associated with less aggressive prostate cancer in humans. 29890952
2017-05-06 14:47:00 Vacuolar H+ ATPase (V-ATPase), the key proton pump for endo-lysosomal acidification, and two previously uncharacterised V-ATPase assembly factors, TMEM199 and CCDC115, stabilise HIF1alpha in aerobic conditions. 28296633
2016-06-28 11:17:00 Our study reveals CCDC115 deficiency as a disorder of Golgi homeostasis that can be readily identified via screening for abnormal glycosylation in plasma. 26833332

名称对应

Type IDs
Synonymous CDG2O, ccp1
Gene
UniProtKB-ID: CC115_HUMAN, B8ZZ99_HUMAN, A1QKJ6_HUMAN
UniprotKB: Q96NT0, B8ZZ99, A1QKJ6
UniParc: UPI0000D4D0D1, UPI00017A7112, UPI000006E81C
EMBL: AK054693, BC006429, CH471263, AC132479, AK295922
Ensembl: ENSG00000136710
KO: hsa:84317
Nucleutide sequences
EMBL-CDS: AAH06429.2, BAG58709.1, AAY24075.1, BAB70794.1, EAW55611.1, EAW55610.1, EAW55612.1
Gene_ORFName: hCG_39080, hCG_39080
Ensembl_TRS: ENST00000259229, ENST00000651709, ENST00000409127
Protein sequencees
Ensembl_PRO: ENSP00000499101, ENSP00000259229, ENSP00000387301
RefSeq: NP_001308048.2, NP_001308047.1, NP_115733.2
Others
UniRef100: UniRef100_Q96NT0, UniRef100_B8ZZ99
UniRef90: UniRef90_Q96NT0, UniRef90_B8ZZ99
UniRef50: UniRef50_Q96NT0, UniRef50_Q96NT0-2
UniGene: Hs.104203
CCDS: CCDS2159.1

全选

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