InnateDB Protein
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IDBP-66120.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MFN1
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Protein Name
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mitofusin 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000349963
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InnateDB Gene
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IDBG-66114 (MFN1)
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Protein Structure
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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}.
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Subcellular Localization |
Mitochondrion outer membrane {ECO:0000305PubMed:11751411, ECO:0000305PubMed:12759376}; Multi- pass membrane protein {ECO:0000305PubMed:11751411, ECO:0000305PubMed:12759376}.Isoform 2: Cytoplasm.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
12
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001401
Dynamin, GTPase domain
IPR027417
P-loop containing nucleoside triphosphate hydrolase
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PFAM |
PF00350
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PRINTS |
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PIRSF |
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SMART |
SM00053
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TIGRFAMs |
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Modification |
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SwissProt |
Q8IWA4
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PhosphoSite |
PhosphoSite-Q8IWA4
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TrEMBL |
C9JXQ1
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UniProt Splice Variant |
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Entrez Gene |
55669
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UniGene |
Hs.708940
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RefSeq |
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HUGO |
HGNC:18262
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OMIM |
608506
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CCDS |
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HPRD |
16344
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IMGT |
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EMBL |
AC007620
AC007823
AF054986
AF329637
AK000700
AK314306
BC040557
CH471052
U95822
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GenPept |
AAB64220
AAC09347
AAH40557
AAK06840
BAA91327
BAG36958
EAW78406
EAW78410
EAW78411
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