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29098 RANGRF

29098

RANGRF

RAN guanine nucleotide release factor

protein-coding

Homo sapiens

基因描述

Type Description
Definition RAN guanine nucleotide release factor

研究结论

Date Results Publications
2019-06-29 11:07:00 The MOG1 domain required for the interaction with Nav1.5 to the region spanning amino acids 146-174, and a refined deletion analysis further narrowed this domain to amino acids146-155. 30282806
2016-04-23 12:06:00 Suggest that p.E61X_RANGRF is a rare genetic variation with an uncertain role in Brugada Syndrome. 24142675
2015-09-26 16:56:00 Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy. 24438356
2011-10-01 12:07:00 Results suggest that dominant-negative mutations in MOG1 can impair the trafficking of Na(v)1.5 to the membrane, leading to I(Na) reduction and clinical manifestation of Brugada syndrome. 21447824
2011-09-24 12:07:00 Our screening of Nav1.5 cofactor MOG1 uncovered a novel nonsense variant that appeared to be present at a higher frequency among these patients with atrial fibrillation and Brugada syndrome than control subjects. 21621375

名称对应

Type IDs
Synonymous HSPC165, HSPC236, MOG1, RANGNRF
Gene
UniProtKB-ID: MOG1_HUMAN
UniprotKB: Q9HD47
UniParc: UPI0000073815, UPI0000072ED6, UPI0000071300, UPI000041A0F9
EMBL: AF168714, BC100017, AK290399, CH471108, BC012552, AF265206, CR457206, AF265205, AF161514, BC006486, CR749387, AF151070
Ensembl: ENSG00000108961
KO: hsa:29098
Nucleutide sequences
EMBL-CDS: CAG33487.1, EAW90066.1, AAG01291.1, EAW90064.1, AAF87316.1, BAF83088.1, AAF36156.1, EAW90065.1, AAG01292.1, AAF29129.1, CAH18237.1, AAH12552.1, AAH06486.1, AAI00018.1
Gene_ORFName: HSPC236, HSPC165, MDS5
Ensembl_TRS: ENST00000439238, ENST00000226105, ENST00000580434, ENST00000407006
Protein sequencees
Ensembl_PRO: ENSP00000413190, ENSP00000383940, ENSP00000462310, ENSP00000226105
RefSeq: NP_001171272.1, NP_001171273.1, NP_001317056.1, NP_057576.2
Others
UniRef100: UniRef100_Q9HD47
UniRef90: UniRef90_Q9HD47
UniRef50: UniRef50_Q9HD47
UniGene: Hs.408233
CCDS: CCDS82066.1, CCDS54086.1, CCDS54087.1, CCDS11137.1

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