Mitofusin 1 Recombinant Rabbit Monoclonal Antibody [JF0954]

功能

Mitofusin 1 (Mfn1) and mitofusin 2 (Mfn2) are homologs for the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins and are mediators of mitochondrial fusion. A GTPase domain is required for Mfn protein function but the molecular mechanisms of the GTPase-dependent reaction as well as the functional division of the two Mfn proteins are unknown. They are essential for embryonic development and may play a role in the pathobiology of obesity. Although the Mfn1 and Mfn2 genes are broadly expressed, they show different levels of expression in different tissues. Two Mfn1 transcripts are elevated in heart, while Mfn2 mRNA is abundantly expressed in heart and muscle tissue but present only at low levels in many other tissues. Mfn1 localizes to mitochondria and participates in at least two different high molecular weight protein complexes in a GTP-dependent manner. Purified recombinant Mfn1 exhibited approximately eightfold higher GTPase activity than Mfn2.

背景文献

1. Malhotra A et al. Sonic Hedgehog Signaling Drives Mitochondrial Fragmentation by Suppressing Mitofusins in Cerebellar Granule Neuron Precursors and Medulloblastoma. Mol Cancer Res 14:114-24 (2016).

2. Bruns DR et al. Mitochondrial integrity in a neonatal bovine model of right ventricular dysfunction. Am J Physiol Lung Cell Mol Physiol 308:L158-67 (2015).

序列相似性

Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. Mitofusin subfamily.

组织特异性

Detected in kidney and heart (at protein level). Ubiquitous. Expressed at slightly higher level in kidney and heart. Isoform 2 may be overexpressed in some tumors, such as lung cancers.

翻译后修饰

Ubiquitinated by non-degradative ubiquitin by PRKN. Deubiquitination by USP30 inhibits mitochondrial fusion (By similarity). Ubiquitinated by MARCHF5. When mitochondria are depolarized and dysfunctional, it is ubiquitinated by a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that contains FBXO7 and PRKN.

亚细胞定位

Mitochondrion outer membrane, Cytoplasm.

UNIPROT

SwissProt: Q8IWA4 Human

别名