MARCHF6 (membrane associated ring-CH-type finger 6)

2014-08-01  

Identity

HGNC
LOCATION
5p15.2
LOCUSID
ALIAS
DOA10,FAME3,MARCH-VI,MARCH6,RNF176,TEB4

Other Information

Locus ID:

NCBI: 10299
MIM: 613297
HGNC: 30550
Ensembl: ENSG00000145495

Variants:

dbSNP: 10299
ClinVar: 10299
TCGA: ENSG00000145495
COSMIC: MARCHF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145495ENST00000274140O60337
ENSG00000145495ENST00000449913O60337
ENSG00000145495ENST00000502795D6RHY7
ENSG00000145495ENST00000503788O60337
ENSG00000145495ENST00000510792A0A0B4J206
ENSG00000145495ENST00000640713D6RHY7

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Calnexin/calreticulin cycleREACTOMER-HSA-901042
ER Quality Control Compartment (ERQC)REACTOMER-HSA-901032

References

Pubmed IDYearTitleCitations
163733562006Membrane topology of the yeast endoplasmic reticulum-localized ubiquitin ligase Doa10 and comparison with its human ortholog TEB4 (MARCH-VI).63
244497662014The E3 ubiquitin ligase MARCH6 degrades squalene monooxygenase and affects 3-hydroxy-3-methyl-glutaryl coenzyme A reductase and the cholesterol synthesis pathway.41
196518992009The E3 ubiquitin ligase TEB4 mediates degradation of type 2 iodothyronine deiodinase.40
302020702018Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.19
295198972018MARCH6 and TRC8 facilitate the quality control of cytosolic and tail-anchored proteins.15
265276192016A MARCH6 and IDOL E3 Ubiquitin Ligase Circuit Uncouples Cholesterol Synthesis from Lipoprotein Uptake in Hepatocytes.12
248401242014Squalene mono-oxygenase, a key enzyme in cholesterol synthesis, is stabilized by unsaturated fatty acids.8
270687442016A Conserved C-terminal Element in the Yeast Doa10 and Human MARCH6 Ubiquitin Ligases Required for Selective Substrate Degradation.8
316640392019Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.6
305459372019Cholesterol increases protein levels of the E3 ligase MARCH6 and thereby stimulates protein degradation.2

Citation

Dessen P

MARCHF6 (membrane associated ring-CH-type finger 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54088/marchf6