MFN1 (mitofusin 1)

2011-10-01  

Identity

HGNC
LOCATION
3q26.33
LOCUSID
ALIAS
hfzo1,hfzo2
FUSION GENES

Other Information

Locus ID:

NCBI: 55669
MIM: 608506
HGNC: 18262
Ensembl: ENSG00000171109

Variants:

dbSNP: 55669
ClinVar: 55669
TCGA: ENSG00000171109
COSMIC: MFN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171109ENST00000263969Q8IWA4
ENSG00000171109ENST00000357390Q8IWA4
ENSG00000171109ENST00000467174C9JXQ1
ENSG00000171109ENST00000471841Q8IWA4
ENSG00000171109ENST00000474903H7C5H5
ENSG00000171109ENST00000489329C9JQT7

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
MitophagyREACTOMER-HSA-5205647
Pink/Parkin Mediated MitophagyREACTOMER-HSA-5205685
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
211731152010Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin.476
155096492004OPA1 requires mitofusin 1 to promote mitochondrial fusion.355
208710982010Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.326
124759572002Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins.213
119508852002Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.161
159614172005Mitofusins 1/2 and ERRalpha expression are increased in human skeletal muscle after physical exercise.113
216154082011Parkin promotes the ubiquitination and degradation of the mitochondrial fusion factor mitofusin 1.89
214081422011Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts.80
201035332010Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1.75
206614272010Virus-infection or 5'ppp-RNA activates antiviral signal through redistribution of IPS-1 mediated by MFN1.67

Citation

Dessen P

MFN1 (mitofusin 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52408/mfn1-(mitofusin-1)