MFN1

Protein-coding gene in the species Homo sapiens
MFN1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1T3J

Identifiers
AliasesMFN1, hfzo1, hfzo2, mitofusin 1
External IDsOMIM: 608506; MGI: 1914664; HomoloGene: 11481; GeneCards: MFN1; OMA:MFN1 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for MFN1
Genomic location for MFN1
Band3q26.33Start179,347,709 bp[1]
End179,394,936 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for MFN1
Genomic location for MFN1
Band3 A3|3 15.75 cMStart32,583,614 bp[2]
End32,633,388 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • Achilles tendon

  • body of pancreas

  • gastric mucosa

  • epithelium of colon

  • right hemisphere of cerebellum

  • right uterine tube

  • right auricle

  • skin of leg

  • canal of the cervix
Top expressed in
  • myocardium of ventricle

  • digastric muscle

  • right ventricle

  • cardiac muscle tissue of left ventricle

  • extraocular muscle

  • soleus muscle

  • extensor digitorum longus muscle

  • muscle of thigh

  • thoracic diaphragm

  • sternocleidomastoid muscle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • nucleotide binding
  • GTP binding
  • protein binding
  • hydrolase activity
  • GTPase activity
Cellular component
  • cytoplasm
  • mitochondrial outer membrane
  • mitochondrion
  • membrane
  • integral component of mitochondrial outer membrane
  • outer mitochondrial membrane protein complex
  • integral component of membrane
  • intrinsic component of mitochondrial outer membrane
Biological process
  • mitochondrial fusion
  • macroautophagy
  • GTP metabolic process
  • mitochondrion localization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

55669

67414

Ensembl

ENSG00000171109

ENSMUSG00000027668

UniProt

Q8IWA4

Q811U4

RefSeq (mRNA)

NM_017927
NM_033540

NM_024200

RefSeq (protein)

NP_284941

NP_077162

Location (UCSC)Chr 3: 179.35 – 179.39 MbChr 3: 32.58 – 32.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mitofusin-1 is a protein that in humans is encoded by the MFN1 gene.[5][6][7]

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 mitochondrial targeting.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171109 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027668 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Adams MD, Kerlavage AR, Fields C, Venter JC (Sep 1993). "3,400 new expressed sequence tags identify diversity of transcripts in human brain". Nat Genet. 4 (3): 256–67. doi:10.1038/ng0793-256. PMID 8358434. S2CID 20528590.
  6. ^ Santel A, Fuller MT (Feb 2001). "Control of mitochondrial morphology by a human mitofusin". J Cell Sci. 114 (Pt 5): 867–74. doi:10.1242/jcs.114.5.867. PMID 11181170.
  7. ^ a b "Entrez Gene: MFN1 mitofusin 1".

Further reading

  • Pawlikowska P, Orzechowski A (2007). "[Role of transmembrane GTPases in mitochondrial morphology and activity]". Postepy Biochem. 53 (1): 53–9. PMID 17718388.
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
  • Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
  • Hales KG, Fuller MT (1997). "Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase". Cell. 90 (1): 121–9. doi:10.1016/S0092-8674(00)80319-0. PMID 9230308. S2CID 15162087.
  • Chung JG, Yeh KT, Wu SL, et al. (2002). "Novel transmembrane GTPase of non-small cell lung cancer identified by mRNA differential display". Cancer Res. 61 (24): 8873–9. PMID 11751411.
  • Rojo M, Legros F, Chateau D, Lombès A (2003). "Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo". J. Cell Sci. 115 (Pt 8): 1663–74. doi:10.1242/jcs.115.8.1663. PMID 11950885.
  • Legros F, Lombès A, Frachon P, Rojo M (2003). "Mitochondrial Fusion in Human Cells Is Efficient, Requires the Inner Membrane Potential, and Is Mediated by Mitofusins". Mol. Biol. Cell. 13 (12): 4343–54. doi:10.1091/mbc.E02-06-0330. PMC 138638. PMID 12475957.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Santel A, Frank S, Gaume B, et al. (2004). "Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells". J. Cell Sci. 116 (Pt 13): 2763–74. doi:10.1242/jcs.00479. PMID 12759376. S2CID 6661619.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Cipolat S, Martins de Brito O, Dal Zilio B, Scorrano L (2004). "OPA1 requires mitofusin 1 to promote mitochondrial fusion". Proc. Natl. Acad. Sci. U.S.A. 101 (45): 15927–32. Bibcode:2004PNAS..10115927C. doi:10.1073/pnas.0407043101. PMC 528769. PMID 15509649.
  • Cartoni R, Léger B, Hock MB, et al. (2005). "Mitofusins 1/2 and ERRα expression are increased in human skeletal muscle after physical exercise". J. Physiol. 567 (Pt 1): 349–58. doi:10.1113/jphysiol.2005.092031. PMC 1474174. PMID 15961417.


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