• Gene id: 55669

Gene Summary

• Gene Symbol: MFN1   Gene   UCSC   Ensembl
• Aliases: hfzo1, hfzo2
• Gene name: mitofusin 1
• Alternate names: mitofusin-1, fzo homolog, mitochondrial transmembrane GTPase FZO-2, mitochondrial transmembrane GTPase Fzo-1, putative transmembrane GTPase, transmembrane GTPase MFN1,
• Gene location: 3q26.33 (179347708: 179394935)     Exons: 1     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 608506

Protein Summary

• Protein general information: Q8IWA4  
  • Name: Mitofusin 1 (EC 3.6.5. ) (Fzo homolog) (Transmembrane GTPase MFN1)
  • Length: 741  
  • Mass: 84160
  • Tissue specificity: Detected in kidney and heart (at protein level) (PubMed
• Sequence:

  MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGYKDKLSIIGEVLSRRH
  MKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDGDKAYLMTEGSDEKKSVKTVNQLAHALHMDK
  DLKAGCLVRVFWPKAKCALLRDDLVLVDSPGTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNE
  RLSKPNIFILNNRWDASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMP
  ESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNLAAEDKRHYSVEERED
  QIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRLSVLVDEFCSEFHPNPDVLKIYKSELNKHIE
  DGMGRNLADRCTDEVNALVLQTQQEIIENLKPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFS
  LGWSSLVHRFLGPRNAQRVLLGLSEPIFQLPRSLASTPTAPTTPATPDNASQEELMITLVTGLASVTSRTSMGII
  IVGGVIWKTIGWKLLSVSLTMYGALYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSSTSANCSHQVKQQIAT
  TFARLCQQVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAVQLENELENFTKQFLPSSNEES

• Structural information:
  • Protein Domains: (72..32-)
    (/note="Dynamin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01055"-)
  • Interpro: IPR022812  IPR006884  IPR030381  IPR027088  IPR027094   IPR027417  
  • Prosite: PS51718
  • PDB: 5GNR 5GNS 5GNT 5GNU 5GO4 5GOE 5GOF 5GOM 5YEW
  • PDBsum: 5GNR 5GNS 5GNT 5GNU 5GO4 5GOE 5GOF 5GOM 5YEW
  • DIP: 50289
  • STRING: ENSP00000420617
• Other Databases: GeneCards:  MFN1  Malacards:  MFN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IDA	cellular component
GO:0051646	mitochondrion localization	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0031306	intrinsic component of mitochondrial outer membrane	IBA	cellular component
GO:0008053	mitochondrial fusion	IBA	biological process
GO:0003924	GTPase activity	IDA	molecular function
GO:0098799	outer mitochondrial membrane protein complex	IDA	cellular component
GO:0046039	GTP metabolic process	IDA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0051646	mitochondrion localization	IMP	biological process
GO:0003924	GTPase activity	IMP	molecular function
GO:0008053	mitochondrial fusion	IMP	biological process
GO:1990613	mitochondrial membrane fusion	IMP	biological process
GO:0008053	mitochondrial fusion	IMP	biological process
GO:0008053	mitochondrial fusion	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0008053	mitochondrial fusion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010918	positive regulation of mitochondrial membrane potential	IEA	biological process
GO:0008053	mitochondrial fusion	IEA	biological process
GO:0008053	mitochondrial fusion	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease
hsa04621	NOD-like receptor signaling pathway
hsa04137	Mitophagy - animal

Diseases

Associated diseases	References
Alzheimer's disease	PMID:19605646
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881