Version 5.4
Homo sapiens Protein: MFN1
Summary
InnateDB Protein IDBP-483530.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MFN1
Protein Name mitofusin 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000420617
InnateDB Gene IDBG-66114 (MFN1)
Protein Structure
UniProt Annotation
Function Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN1 acts independently of the cytoskeleton. Overexpression induces the formation of mitochondrial networks. {ECO:0000269PubMed:11181170, ECO:0000269PubMed:12475957, ECO:0000269PubMed:12759376, ECO:0000269PubMed:23921378}.
Subcellular Localization Mitochondrion outer membrane {ECO:0000305PubMed:11751411, ECO:0000305PubMed:12759376}; Multi- pass membrane protein {ECO:0000305PubMed:11751411, ECO:0000305PubMed:12759376}.Isoform 2: Cytoplasm.
Disease Associations
Tissue Specificity Ubiquitous. Expressed at slightly higher level in kidney and heart. Isoform 2 may be overexpressed in some tumors, such as lung cancers. {ECO:0000269PubMed:11751411, ECO:0000269PubMed:11950885, ECO:0000269PubMed:12759376}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
Biological Process
GO:0006184 GTP catabolic process
GO:0008053 mitochondrial fusion
GO:0045087 innate immune response (InnateDB)
Cellular Component
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR001401 Dynamin, GTPase domain
IPR006884 Fzo/mitofusin HR2 domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00350
PF04799
PRINTS
PIRSF
SMART SM00053
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IWA4
PhosphoSite PhosphoSite-Q8IWA4
TrEMBL C9JXQ1
UniProt Splice Variant
Entrez Gene 55669
UniGene Hs.708940
RefSeq NP_284941
HUGO HGNC:18262
OMIM 608506
CCDS CCDS3228
HPRD 16344
IMGT
EMBL AC007620 AC007823 AF054986 AF329637 AK000700 AK314306 BC040557 CH471052 U95822
GenPept AAB64220 AAC09347 AAH40557 AAK06840 BAA91327 BAG36958 EAW78406 EAW78410 EAW78411

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca