Gene Gene information from NCBI Gene database.
Entrez ID 55669
Gene name Mitofusin 1
Gene symbol MFN1
Synonyms (NCBI Gene)
hfzo1hfzo2
Chromosome 3
Chromosome location 3q26.33
Summary The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondri
miRNA miRNA information provided by mirtarbase database.
243
miRTarBase ID miRNA Experiments Reference
MIRT522523 hsa-miR-520b PAR-CLIP 23446348
MIRT522522 hsa-miR-302c-3p PAR-CLIP 23446348
MIRT522521 hsa-miR-302b-3p PAR-CLIP 23446348
MIRT522520 hsa-miR-372-3p PAR-CLIP 23446348
MIRT522519 hsa-miR-520d-3p PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IDA 27920125
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity IMP 28114303
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608506 18262 ENSG00000171109
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWA4
Protein name Mitofusin-1 (EC 3.6.5.-) (Fzo homolog) (Transmembrane GTPase MFN1)
Protein function Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity (PubMed:27920125). It may involve a major re
PDB 5GNR , 5GNS , 5GNT , 5GNU , 5GO4 , 5GOE , 5GOF , 5GOM , 5YEW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00350 Dynamin_N 78 238 Dynamin family Domain
PF04799 Fzo_mitofusin 575 735 fzo-like conserved region Family
Tissue specificity TISSUE SPECIFICITY: Detected in kidney and heart (at protein level) (PubMed:12759376). Ubiquitous (PubMed:11950885, PubMed:12759376). Expressed at slightly higher level in kidney and heart (PubMed:12759376). Isoform 2 may be overexpressed in some tumors,
Sequence
MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGY
KDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDG
DKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSP
GTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNR
WD
ASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMP
ESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNL
AAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRL
SVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENL
KPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFSLGWSSLVHRFLGPRN
AQRVLLGLSEPIFQLPRSLASTPTAPTTPATPDNASQEELMITLVTGLASVTSRTSMGII
IVGGVIWKTIGWKLLSVSLTMYGALYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSS
TSANCSHQVKQQIATTFARLCQQVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAV
QLENELENFTKQFLP
SSNEES
Sequence length 741
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mitophagy - animal
NOD-like receptor signaling pathway
Parkinson disease
Pathways of neurodegeneration - multiple diseases
  Pink/Parkin Mediated Mitophagy
Factors involved in megakaryocyte development and platelet production