RETREG1 (reticulophagy regulator 1)

2017-04-01  

Identity

HGNC
LOCATION
5p15.1
LOCUSID
ALIAS
FAM134B,JK-1,JK1
FUSION GENES

Other Information

Locus ID:

NCBI: 54463
MIM: 613114
HGNC: 25964
Ensembl: ENSG00000154153

Variants:

dbSNP: 54463
ClinVar: 54463
TCGA: ENSG00000154153
COSMIC: RETREG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154153ENST00000306320Q9H6L5
ENSG00000154153ENST00000399793Q9H6L5
ENSG00000154153ENST00000510362H0Y9U4

References

Pubmed IDYearTitleCitations
260407202015Regulation of endoplasmic reticulum turnover by selective autophagy.207
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198381962009Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.57
281027362017Dengue and Zika viruses subvert reticulophagy by NS2B3-mediated cleavage of FAM134B.46
305593292019A selective ER-phagy exerts procollagen quality control via a Calnexin-FAM134B complex.28
311475492019Curvature induction and membrane remodeling by FAM134B reticulon homology domain assist selective ER-phagy.20
285499132017MicroRNA-186-5p overexpression modulates colon cancer growth by repressing the expression of the FAM134B tumour inhibitor.17
243273362014Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family.10
211154722012Mutation in FAM134B causing severe hereditary sensory neuropathy.9
211274582011A strong synergistic epistasis between FAM134B and TNFRSF19 on the susceptibility to vascular dementia.8

Citation

Dessen P

RETREG1 (reticulophagy regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56896/retreg1