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Q8IWA4

- MFN1_HUMAN

UniProt

Q8IWA4 - MFN1_HUMAN

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Protein

Mitofusin-1

Gene
MFN1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.4 Publications

Catalytic activityi

GTP + H2O = GDP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi82 – 898GTP Inferred
Nucleotide bindingi178 – 1825GTP Inferred
Nucleotide bindingi237 – 2404GTP Inferred

GO - Molecular functioni

  1. GTPase activity Source: InterPro
  2. GTP binding Source: UniProtKB-KW
  3. protein binding Source: IntAct

GO - Biological processi

  1. mitochondrial fusion Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.

Protein family/group databases

TCDBi9.B.25.2.1. the mitochondrial inner/outer membrane fusion (mmf) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitofusin-1 (EC:3.6.5.-)
Alternative name(s):
Fzo homolog
Transmembrane GTPase MFN1
Gene namesi
Name:MFN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:18262. MFN1.

Subcellular locationi

Mitochondrion outer membrane; Multi-pass membrane protein Inferred 2 Publications
Isoform 2 : Cytoplasm 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 584584Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei585 – 60521Helical; Name=1; Reviewed predictionAdd
BLAST
Topological domaini606 – 6083Mitochondrial intermembrane Reviewed prediction
Transmembranei609 – 62921Helical; Name=2; Reviewed predictionAdd
BLAST
Topological domaini630 – 741112Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial outer membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi88 – 881K → T: Induces a strong decrease in mitochondrial clustering. 1 Publication
Mutagenesisi109 – 1091T → A: Acts as a dominant negative mutant; induces fragmentation of mitochondria. 1 Publication

Organism-specific databases

PharmGKBiPA134945973.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 741741Mitofusin-1PRO_0000127672Add
BLAST

Post-translational modificationi

Ubiquitinated by non-degradative ubiquitin by PARK2, promoting mitochondrial fusion; deubiquitination by USP30 inhibits mitochondrial fusion By similarity. Ubiquitinated by MARCH5. When mitochondria are depolarized and dysfunctional, it is ubiquitinated by a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that contains FBXO7 and PARK2.

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQBiQ8IWA4.
PaxDbiQ8IWA4.
PRIDEiQ8IWA4.

PTM databases

PhosphoSiteiQ8IWA4.

Expressioni

Tissue specificityi

Ubiquitous. Expressed at slightly higher level in kidney and heart. Isoform 2 may be overexpressed in some tumors, such as lung cancers.3 Publications

Gene expression databases

ArrayExpressiQ8IWA4.
BgeeiQ8IWA4.
CleanExiHS_MFN1.
GenevestigatoriQ8IWA4.

Organism-specific databases

HPAiCAB033437.

Interactioni

Subunit structurei

Forms homomultimers and heteromultimers with MFN2. Multimerization, which is mediated by the second coiled coil region, may play an essential role in mitochondrion fusion By similarity. Participates in a high molecular weight multiprotein complex. Interacts with VAT1 By similarity.

Binary interactionsi

WithEntry#Exp.IntActNotes
MAVSQ7Z4342EBI-1048197,EBI-995373

Protein-protein interaction databases

BioGridi120801. 7 interactions.
DIPiDIP-50289N.
IntActiQ8IWA4. 4 interactions.
MINTiMINT-6940236.
STRINGi9606.ENSP00000263969.

Structurei

3D structure databases

ProteinModelPortaliQ8IWA4.
SMRiQ8IWA4. Positions 674-734.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini72 – 321250Dynamin-type GAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili371 – 40838 Reviewed predictionAdd
BLAST
Coiled coili679 – 73456 Reviewed predictionAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0699.
HOVERGENiHBG052465.
InParanoidiQ8IWA4.
KOiK06030.
OMAiAMTDEIC.
OrthoDBiEOG7HB58M.
PhylomeDBiQ8IWA4.
TreeFamiTF314289.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR001401. Dynamin_GTPase.
IPR006884. Fzo/mitofusin_HR2.
IPR027088. Mitofusin-1.
IPR027094. Mitofusin_fam.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10465. PTHR10465. 1 hit.
PTHR10465:SF2. PTHR10465:SF2. 1 hit.
PfamiPF00350. Dynamin_N. 1 hit.
PF04799. Fzo_mitofusin. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51718. G_DYNAMIN_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IWA4-1) [UniParc]FASTAAdd to Basket

Also known as: TG741

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MAEPVSPLKH FVLAKKAITA IFDQLLEFVT EGSHFVEATY KNPELDRIAT    50
EDDLVEMQGY KDKLSIIGEV LSRRHMKVAF FGRTSSGKSS VINAMLWDKV 100
LPSGIGHITN CFLSVEGTDG DKAYLMTEGS DEKKSVKTVN QLAHALHMDK 150
DLKAGCLVRV FWPKAKCALL RDDLVLVDSP GTDVTTELDS WIDKFCLDAD 200
VFVLVANSES TLMNTEKHFF HKVNERLSKP NIFILNNRWD ASASEPEYME 250
DVRRQHMERC LHFLVEELKV VNALEAQNRI FFVSAKEVLS ARKQKAQGMP 300
ESGVALAEGF HARLQEFQNF EQIFEECISQ SAVKTKFEQH TIRAKQILAT 350
VKNIMDSVNL AAEDKRHYSV EEREDQIDRL DFIRNQMNLL TLDVKKKIKE 400
VTEEVANKVS CAMTDEICRL SVLVDEFCSE FHPNPDVLKI YKSELNKHIE 450
DGMGRNLADR CTDEVNALVL QTQQEIIENL KPLLPAGIQD KLHTLIPCKK 500
FDLSYNLNYH KLCSDFQEDI VFPFSLGWSS LVHRFLGPRN AQRVLLGLSE 550
PIFQLPRSLA STPTAPTTPA TPDNASQEEL MITLVTGLAS VTSRTSMGII 600
IVGGVIWKTI GWKLLSVSLT MYGALYLYER LSWTTHAKER AFKQQFVNYA 650
TEKLRMIVSS TSANCSHQVK QQIATTFARL CQQVDITQKQ LEEEIARLPK 700
EIDQLEKIQN NSKLLRNKAV QLENELENFT KQFLPSSNEE S 741
Length:741
Mass (Da):84,100
Last modified:June 26, 2007 - v2
Checksum:iC4C1F56561D44A79
GO
Isoform 2 (identifier: Q8IWA4-2) [UniParc]FASTAAdd to Basket

Also known as: TG370

The sequence of this isoform differs from the canonical sequence as follows:
     367-370: HYSV → FHVQ
     371-741: Missing.

Show »
Length:370
Mass (Da):41,883
Checksum:i187B06EA1E971C6E
GO
Isoform 3 (identifier: Q8IWA4-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     444-554: Missing.

Show »
Length:630
Mass (Da):71,401
Checksum:iD173A310365208BD
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti415 – 4151D → H in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036115
Natural varianti523 – 5231P → R.5 Publications
Corresponds to variant rs7637065 [ dbSNP | Ensembl ].
VAR_018606

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei367 – 3704HYSV → FHVQ in isoform 2. VSP_010362
Alternative sequencei371 – 741371Missing in isoform 2. VSP_010363Add
BLAST
Alternative sequencei444 – 554111Missing in isoform 3. VSP_010364Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti17 – 171A → G in AAK06840. 1 Publication
Sequence conflicti21 – 211I → V in BAA91327. 1 Publication
Sequence conflicti162 – 1621W → C in AAB64220. 1 Publication
Sequence conflicti226 – 2261R → W in AAK06840. 1 Publication
Sequence conflicti271 – 2711V → A in AAK06840. 1 Publication
Sequence conflicti406 – 4061A → P in AAB64220. 1 Publication
Sequence conflicti688 – 6881Q → H in AAB64220. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF329637 mRNA. Translation: AAK06840.1.
AK000700 mRNA. Translation: BAA91327.1.
AK314306 mRNA. Translation: BAG36958.1.
AC007823 Genomic DNA. No translation available.
AC007620 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78406.1.
CH471052 Genomic DNA. Translation: EAW78410.1.
CH471052 Genomic DNA. Translation: EAW78411.1.
BC040557 mRNA. Translation: AAH40557.1.
U95822 mRNA. Translation: AAB64220.1.
AF054986 mRNA. Translation: AAC09347.1.
CCDSiCCDS3228.1. [Q8IWA4-1]
RefSeqiNP_284941.2. NM_033540.2.
XP_005247653.2. XM_005247596.2.
UniGeneiHs.478383.

Genome annotation databases

EnsembliENST00000263969; ENSP00000263969; ENSG00000171109. [Q8IWA4-1]
ENST00000280653; ENSP00000280653; ENSG00000171109. [Q8IWA4-3]
ENST00000357390; ENSP00000349963; ENSG00000171109. [Q8IWA4-2]
ENST00000471841; ENSP00000420617; ENSG00000171109. [Q8IWA4-1]
GeneIDi55669.
KEGGihsa:55669.
UCSCiuc003fjs.3. human. [Q8IWA4-1]

Polymorphism databases

DMDMi150421594.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF329637 mRNA. Translation: AAK06840.1 .
AK000700 mRNA. Translation: BAA91327.1 .
AK314306 mRNA. Translation: BAG36958.1 .
AC007823 Genomic DNA. No translation available.
AC007620 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78406.1 .
CH471052 Genomic DNA. Translation: EAW78410.1 .
CH471052 Genomic DNA. Translation: EAW78411.1 .
BC040557 mRNA. Translation: AAH40557.1 .
U95822 mRNA. Translation: AAB64220.1 .
AF054986 mRNA. Translation: AAC09347.1 .
CCDSi CCDS3228.1. [Q8IWA4-1 ]
RefSeqi NP_284941.2. NM_033540.2.
XP_005247653.2. XM_005247596.2.
UniGenei Hs.478383.

3D structure databases

ProteinModelPortali Q8IWA4.
SMRi Q8IWA4. Positions 674-734.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120801. 7 interactions.
DIPi DIP-50289N.
IntActi Q8IWA4. 4 interactions.
MINTi MINT-6940236.
STRINGi 9606.ENSP00000263969.

Protein family/group databases

TCDBi 9.B.25.2.1. the mitochondrial inner/outer membrane fusion (mmf) family.

PTM databases

PhosphoSitei Q8IWA4.

Polymorphism databases

DMDMi 150421594.

Proteomic databases

MaxQBi Q8IWA4.
PaxDbi Q8IWA4.
PRIDEi Q8IWA4.

Protocols and materials databases

DNASUi 55669.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263969 ; ENSP00000263969 ; ENSG00000171109 . [Q8IWA4-1 ]
ENST00000280653 ; ENSP00000280653 ; ENSG00000171109 . [Q8IWA4-3 ]
ENST00000357390 ; ENSP00000349963 ; ENSG00000171109 . [Q8IWA4-2 ]
ENST00000471841 ; ENSP00000420617 ; ENSG00000171109 . [Q8IWA4-1 ]
GeneIDi 55669.
KEGGi hsa:55669.
UCSCi uc003fjs.3. human. [Q8IWA4-1 ]

Organism-specific databases

CTDi 55669.
GeneCardsi GC03P179065.
HGNCi HGNC:18262. MFN1.
HPAi CAB033437.
MIMi 608506. gene.
neXtProti NX_Q8IWA4.
PharmGKBi PA134945973.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0699.
HOVERGENi HBG052465.
InParanoidi Q8IWA4.
KOi K06030.
OMAi AMTDEIC.
OrthoDBi EOG7HB58M.
PhylomeDBi Q8IWA4.
TreeFami TF314289.

Enzyme and pathway databases

Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

GeneWikii MFN1.
GenomeRNAii 55669.
NextBioi 60436.
PROi Q8IWA4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8IWA4.
Bgeei Q8IWA4.
CleanExi HS_MFN1.
Genevestigatori Q8IWA4.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR001401. Dynamin_GTPase.
IPR006884. Fzo/mitofusin_HR2.
IPR027088. Mitofusin-1.
IPR027094. Mitofusin_fam.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR10465. PTHR10465. 1 hit.
PTHR10465:SF2. PTHR10465:SF2. 1 hit.
Pfami PF00350. Dynamin_N. 1 hit.
PF04799. Fzo_mitofusin. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS51718. G_DYNAMIN_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Control of mitochondrial morphology by a human mitofusin."
    Santel A., Fuller M.T.
    J. Cell Sci. 114:867-874(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT ARG-523.
    Tissue: Heart.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    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 T.-O., 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.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ARG-523.
    Tissue: Ileal mucosa and Trachea.
  3. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-523.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-523.
    Tissue: Testis.
  6. "Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase."
    Hales K.G., Fuller M.T.
    Cell 90:121-129(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 138-741 (ISOFORM 3).
    Tissue: Brain.
  7. Yu W., Gibbs R.A.
    Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 374-741, VARIANT ARG-523.
    Tissue: Brain.
  8. "Novel transmembrane GTPase of non-small cell lung cancer identified by mRNA differential display."
    Chung J.-G., Yeh K.-T., Wu S.-L., Hsu N.-Y., Chen G.-W., Yeh Y.-W., Ho H.-C.
    Cancer Res. 61:8873-8879(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  9. "Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo."
    Rojo M., Legros F., Chateau D., Lombes A.
    J. Cell Sci. 115:1663-1674(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  10. "Mitochondrial fusion in human cells is efficient, requires the inner membrane potential, and is mediated by mitofusins."
    Legros F., Lombes A., Frachon P., Rojo M.
    Mol. Biol. Cell 13:4343-4354(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  11. "Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells."
    Santel A., Frank S., Gaume B., Herrler M., Youle R.J., Fuller M.T.
    J. Cell Sci. 116:2763-2774(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF LYS-88 AND THR-109.
  12. "Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1."
    Park Y.Y., Lee S., Karbowski M., Neutzner A., Youle R.J., Cho H.
    J. Cell Sci. 123:619-626(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: UBIQUITINATION BY MARCH5.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission."
    Palmer C.S., Elgass K.D., Parton R.G., Osellame L.D., Stojanovski D., Ryan M.T.
    J. Biol. Chem. 288:27584-27593(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  15. Cited for: UBIQUITINATION.
  16. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-415.

Entry informationi

Entry nameiMFN1_HUMAN
AccessioniPrimary (citable) accession number: Q8IWA4
Secondary accession number(s): B2RAR1
, D3DNR6, O15323, O60639, Q9BZB5, Q9NWQ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: June 26, 2007
Last modified: September 3, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi