Hmdb loader
Identification
HMDB Protein ID HMDBP08481
Secondary Accession Numbers
  • 14193
Name Mitofusin-1
Synonyms
  1. Fzo homolog
  2. Transmembrane GTPase MFN1
Gene Name MFN1
Protein Type Unknown
Biological Properties
General Function Involved in GTPase activity
Specific 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.
Pathways Not Available
Reactions
Guanosine triphosphate + Water → Guanosine diphosphate + Phosphate details
GO Classification
Biological Process
mitochondrial fusion
Cellular Component
mitochondrial outer membrane
integral to membrane
Component
membrane
cell part
membrane part
organelle membrane
intrinsic to membrane
integral to membrane
mitochondrial membrane
mitochondrial outer membrane
Function
purine nucleotide binding
binding
nucleotide binding
catalytic activity
hydrolase activity
guanyl nucleotide binding
guanyl ribonucleotide binding
gtp binding
gtpase activity
nucleoside-triphosphatase activity
hydrolase activity, acting on acid anhydrides
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
pyrophosphatase activity
Molecular Function
GTPase activity
GTP binding
Process
cellular process
cellular membrane organization
cellular membrane fusion
mitochondrial fusion
Cellular Location
  1. Isoform 2:Cytoplasm
Gene Properties
Chromosome Location 3
Locus 3q26.33
SNPs MFN1
Gene Sequence
>2226 bp
ATGGCAGAACCTGTTTCTCCACTGAAGCACTTTGTGCTGGCTAAGAAGGCGATTACTGCA
ATCTTTGACCAGTTACTGGAGTTTGTTACTGAAGGATCACATTTTGTTGAAGCAACATAT
AAGAATCCGGAACTTGATCGAATAGCCACTGAAGATGATCTGGTAGAAATGCAAGGATAT
AAAGACAAGCTTTCCATCATTGGTGAGGTGCTATCTCGGAGACACATGAAGGTGGCATTT
TTTGGCAGGACAAGCAGTGGGAAGAGCTCTGTTATCAATGCAATGTTGTGGGATAAAGTT
CTCCCTAGTGGGATTGGCCATATAACCAATTGCTTCCTAAGTGTTGAAGGAACTGATGGA
GATAAAGCCTATCTTATGACAGAAGGATCAGATGAAAAAAAGAGTGTGAAGACAGTTAAT
CAACTGGCCCATGCCCTTCACATGGACAAAGATTTGAAAGCTGGCTGTCTTGTACGTGTG
TTTTGGCCAAAAGCAAAATGTGCCCTCTTGAGAGATGACCTGGTGTTAGTAGACAGTCCA
GGCACAGATGTCACTACAGAGCTGGATAGCTGGATTGATAAGTTTTGCCTAGATGCTGAT
GTCTTTGTTTTGGTCGCAAACTCTGAATCAACACTAATGAATACGGAAAAACACTTTTTT
CACAAGGTGAATGAGCGGCTTTCCAAGCCTAATATTTTCATTCTCAATAATCGTTGGGAT
GCCTCTGCATCAGAGCCAGAATATATGGAAGACGTACGCAGACAGCACATGGAAAGATGC
CTGCATTTCTTGGTGGAGGAGCTCAAAGTTGTAAATGCTTTAGAAGCACAGAATCGTATC
TTCTTTGTTTCAGCAAAGGAAGTTCTTAGTGCTAGAAAGCAAAAAGCACAGGGGATGCCA
GAAAGTGGTGTGGCACTTGCTGAAGGATTTCATGCAAGATTACAGGAATTTCAGAATTTT
GAACAAATCTTTGAGGAGTGTATCTCGCAGTCAGCAGTGAAAACAAAGTTCGAACAGCAC
ACTATCAGAGCTAAACAGATACTAGCTACTGTGAAAAACATAATGGATTCAGTAAACCTG
GCAGCTGAAGATAAAAGGCATTATTCAGTGGAAGAGAGGGAAGACCAAATTGATAGACTG
GACTTTATTCGAAACCAGATGAACCTTTTAACACTGGATGTTAAGAAAAAAATCAAGGAG
GTTACCGAGGAGGTGGCAAACAAAGTTTCATGTGCAATGACAGATGAAATTTGTCGACTG
TCTGTTTTGGTTGATGAATTTTGTTCAGAGTTTCATCCTAATCCAGATGTATTAAAAATA
TATAAAAGTGAATTAAATAAGCACATAGAGGATGGTATGGGAAGAAATTTGGCTGATCGA
TGCACCGATGAAGTAAACGCCTTAGTGCTTCAGACCCAGCAAGAAATTATTGAAAATTTG
AAGCCATTACTTCCAGCTGGTATACAGGATAAACTACATACACTGATCCCTTGCAAGAAA
TTTGATCTCAGTTATAATCTAAATTACCACAAGTTATGTTCAGATTTTCAAGAGGATATT
GTATTTCGTTTTTCCCTGGGCTGGTCTTCCCTTGTACATCGATTTTTGGGCCCTAGAAAT
GCTCAAAGGGTGCTCCTAGGATTATCAGAGCCTATCTTTCAGCTCCCTAGATCTTTAGCT
TCTACTCCCACTGCTCCTACCACTCCAGCAACGCCAGATAATGCATCACAGGAAGAACTC
ATGATTACATTAGTAACAGGATTGGCGTCCGTTACATCTAGAACTTCTATGGGCATCATT
ATTGTTGGAGGAGTGATTTGGAAAACTATAGGCTGGAAACTCCTATCTGTTTCATTAACT
ATGTATGGAGCTTTGTATCTTTATGAAAGACTGAGCTGGACCACCCATGCCAAGGAGCGA
GCCTTTAAACAGCAGTTTGTAAACTATGCAACTGAAAAACTGAGGATGATTGTTAGCTCC
ACGAGTGCAAACTGCAGTCACCAAGTAAAACAACAAATAGCTACCACTTTTGCTCGCCTG
TGCCAACAAGTTGATATTACTCAAAAACAGCTGGAAGAAGAAATTGCTAGATTACCCAAA
GAAATAGATCAGTTGGAGAAAATACAAAACAATTCAAAGCTCTTAAGAAATAAAGCTGTT
CAACTTGAAAATGAGCTGGAGAATTTTACTAAGCAGTTTCTACCTTCAAGCAATGAAGAA
TCCTAA
Protein Properties
Number of Residues 741
Molecular Weight 84158.78
Theoretical pI 6.329
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Mitofusin-1
MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGY
KDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDG
DKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSP
GTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNRWD
ASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMP
ESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNL
AAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRL
SVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENL
KPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFPFSLGWSSLVHRFLGPRN
AQRVLLGLSEPIFQLPRSLASTPTAPTTPATPDNASQEELMITLVTGLASVTSRTSMGII
IVGGVIWKTIGWKLLSVSLTMYGALYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSS
TSANCSHQVKQQIATTFARLCQQVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAV
QLENELENFTKQFLPSSNEES
GenBank ID Protein 45269137
UniProtKB/Swiss-Prot ID Q8IWA4
UniProtKB/Swiss-Prot Entry Name MFN1_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_033540.2
GeneCard ID MFN1
GenAtlas ID MFN1
HGNC ID HGNC:18262
References
General References
  1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed:16959974 ]
  4. Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. [PubMed:16641997 ]
  5. Santel A, Fuller MT: Control of mitochondrial morphology by a human mitofusin. J Cell Sci. 2001 Mar;114(Pt 5):867-74. [PubMed:11181170 ]
  6. Hales KG, Fuller MT: Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase. Cell. 1997 Jul 11;90(1):121-9. [PubMed:9230308 ]
  7. Chung JG, Yeh KT, Wu SL, Hsu NY, Chen GW, Yeh YW, Ho HC: Novel transmembrane GTPase of non-small cell lung cancer identified by mRNA differential display. Cancer Res. 2001 Dec 15;61(24):8873-9. [PubMed:11751411 ]
  8. Rojo M, Legros F, Chateau D, Lombes A: Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo. J Cell Sci. 2002 Apr 15;115(Pt 8):1663-74. [PubMed:11950885 ]
  9. Legros F, Lombes A, Frachon P, Rojo M: Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins. Mol Biol Cell. 2002 Dec;13(12):4343-54. [PubMed:12475957 ]
  10. Santel A, Frank S, Gaume B, Herrler M, Youle RJ, Fuller MT: Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells. J Cell Sci. 2003 Jul 1;116(Pt 13):2763-74. Epub 2003 May 20. [PubMed:12759376 ]
  11. Park YY, Lee S, Karbowski M, Neutzner A, Youle RJ, Cho H: Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1. J Cell Sci. 2010 Feb 15;123(Pt 4):619-26. doi: 10.1242/jcs.061481. Epub 2010 Jan 26. [PubMed:20103533 ]