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MFN1 (mitofusin 1)

Identity

Alias_symbol (synonym)FLJ20693
Other aliashfzo1
hfzo2
HGNC (Hugo) MFN1
LocusID (NCBI) 55669
Atlas_Id 52408
Location 3q26.33  [Link to chromosome band 3q26]
Location_base_pair Starts at 179347692 and ends at 179393220 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DUSP1 (5q35.1) / MFN1 (3q26.33)GPC1 (2q37.3) / MFN1 (3q26.33)PCBP2 (12q13.13) / MFN1 (3q26.33)
PREX1 (20q13.13) / MFN1 (3q26.33)DUSP1 5q35.1 / MFN1 3q26.33GPC1 2q37.3 / MFN1 3q26.33
PCBP2 12q13.13 / MFN1 3q26.33PREX1 20q13.13 / MFN1 3q26.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MFN1   18262
Cards
Entrez_Gene (NCBI)MFN1  55669  mitofusin 1
Aliaseshfzo1; hfzo2
GeneCards (Weizmann)MFN1
Ensembl hg19 (Hinxton)ENSG00000171109 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171109 [Gene_View]  chr3:179347692-179393220 [Contig_View]  MFN1 [Vega]
ICGC DataPortalENSG00000171109
TCGA cBioPortalMFN1
AceView (NCBI)MFN1
Genatlas (Paris)MFN1
WikiGenes55669
SOURCE (Princeton)MFN1
Genetics Home Reference (NIH)MFN1
Genomic and cartography
GoldenPath hg38 (UCSC)MFN1  -     chr3:179347692-179393220 +  3q26.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MFN1  -     3q26.33   [Description]    (hg19-Feb_2009)
EnsemblMFN1 - 3q26.33 [CytoView hg19]  MFN1 - 3q26.33 [CytoView hg38]
Mapping of homologs : NCBIMFN1 [Mapview hg19]  MFN1 [Mapview hg38]
OMIM608506   
Gene and transcription
Genbank (Entrez)AB043588 AB043589 AF054986 AF329637 AI656503
RefSeq transcript (Entrez)NM_017927 NM_033540
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MFN1
Cluster EST : UnigeneHs.478383 [ NCBI ]
CGAP (NCI)Hs.478383
Alternative Splicing GalleryENSG00000171109
Gene ExpressionMFN1 [ NCBI-GEO ]   MFN1 [ EBI - ARRAY_EXPRESS ]   MFN1 [ SEEK ]   MFN1 [ MEM ]
Gene Expression Viewer (FireBrowse)MFN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55669
GTEX Portal (Tissue expression)MFN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWA4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWA4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWA4
Splice isoforms : SwissVarQ8IWA4
Catalytic activity : Enzyme3.6.5.- [ Enzyme-Expasy ]   3.6.5.-3.6.5.- [ IntEnz-EBI ]   3.6.5.- [ BRENDA ]   3.6.5.- [ KEGG ]   
PhosPhoSitePlusQ8IWA4
Domaine pattern : Prosite (Expaxy)G_DYNAMIN_2 (PS51718)   
Domains : Interpro (EBI)Dynamin_SF    Fzo/mitofusin_HR2    G_DYNAMIN_dom    Mitofusin-1    P-loop_NTPase   
Domain families : Pfam (Sanger)Dynamin_N (PF00350)    Fzo_mitofusin (PF04799)   
Domain families : Pfam (NCBI)pfam00350    pfam04799   
Conserved Domain (NCBI)MFN1
DMDM Disease mutations55669
Blocks (Seattle)MFN1
PDB (SRS)5GNR    5GNS    5GNT    5GNU    5GO4    5GOE    5GOF    5GOM   
PDB (PDBSum)5GNR    5GNS    5GNT    5GNU    5GO4    5GOE    5GOF    5GOM   
PDB (IMB)5GNR    5GNS    5GNT    5GNU    5GO4    5GOE    5GOF    5GOM   
PDB (RSDB)5GNR    5GNS    5GNT    5GNU    5GO4    5GOE    5GOF    5GOM   
Structural Biology KnowledgeBase5GNR    5GNS    5GNT    5GNU    5GO4    5GOE    5GOF    5GOM   
SCOP (Structural Classification of Proteins)5GNR    5GNS    5GNT    5GNU    5GO4    5GOE    5GOF    5GOM   
CATH (Classification of proteins structures)5GNR    5GNS    5GNT    5GNU    5GO4    5GOE    5GOF    5GOM   
SuperfamilyQ8IWA4
Human Protein AtlasENSG00000171109
Peptide AtlasQ8IWA4
HPRD16344
IPIIPI00395973   IPI00412274   IPI01009469   IPI00293073   IPI00795001   IPI00945910   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWA4
IntAct (EBI)Q8IWA4
FunCoupENSG00000171109
BioGRIDMFN1
STRING (EMBL)MFN1
ZODIACMFN1
Ontologies - Pathways
QuickGOQ8IWA4
Ontology : AmiGOGTPase activity  GTPase activity  GTPase activity  protein binding  GTP binding  mitochondrion  mitochondrial outer membrane  mitochondrial fusion  mitochondrial fusion  integral component of membrane  integral component of membrane  macroautophagy  intrinsic component of mitochondrial outer membrane  integral component of mitochondrial outer membrane  GTP metabolic process  mitochondrion localization  mitochondrion localization  outer mitochondrial membrane protein complex  mitochondrial membrane fusion  
Ontology : EGO-EBIGTPase activity  GTPase activity  GTPase activity  protein binding  GTP binding  mitochondrion  mitochondrial outer membrane  mitochondrial fusion  mitochondrial fusion  integral component of membrane  integral component of membrane  macroautophagy  intrinsic component of mitochondrial outer membrane  integral component of mitochondrial outer membrane  GTP metabolic process  mitochondrion localization  mitochondrion localization  outer mitochondrial membrane protein complex  mitochondrial membrane fusion  
NDEx NetworkMFN1
Atlas of Cancer Signalling NetworkMFN1
Wikipedia pathwaysMFN1
Orthology - Evolution
OrthoDB55669
GeneTree (enSembl)ENSG00000171109
Phylogenetic Trees/Animal Genes : TreeFamMFN1
HOVERGENQ8IWA4
HOGENOMQ8IWA4
Homologs : HomoloGeneMFN1
Homology/Alignments : Family Browser (UCSC)MFN1
Gene fusions - Rearrangements
Fusion : MitelmanDUSP1/MFN1 [5q35.1/3q26.33]  [t(3;5)(q26;q35)]  
Fusion : MitelmanGPC1/MFN1 [2q37.3/3q26.33]  [t(2;3)(q37;q26)]  
Fusion : MitelmanPCBP2/MFN1 [12q13.13/3q26.33]  [t(3;12)(q26;q13)]  
Fusion : MitelmanPREX1/MFN1 [20q13.13/3q26.33]  [t(3;20)(q26;q13)]  
Fusion: TCGADUSP1 5q35.1 MFN1 3q26.33 PRAD
Fusion: TCGAGPC1 2q37.3 MFN1 3q26.33 LUSC
Fusion: TCGAPCBP2 12q13.13 MFN1 3q26.33 BRCA
Fusion: TCGAPREX1 20q13.13 MFN1 3q26.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMFN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MFN1
dbVarMFN1
ClinVarMFN1
1000_GenomesMFN1 
Exome Variant ServerMFN1
ExAC (Exome Aggregation Consortium)MFN1 (select the gene name)
Genetic variants : HAPMAP55669
Genomic Variants (DGV)MFN1 [DGVbeta]
DECIPHERMFN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMFN1 
Mutations
ICGC Data PortalMFN1 
TCGA Data PortalMFN1 
Broad Tumor PortalMFN1
OASIS PortalMFN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMFN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMFN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MFN1
DgiDB (Drug Gene Interaction Database)MFN1
DoCM (Curated mutations)MFN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MFN1 (select a term)
intoGenMFN1
Cancer3DMFN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608506   
Orphanet
MedgenMFN1
Genetic Testing Registry MFN1
NextProtQ8IWA4 [Medical]
TSGene55669
GENETestsMFN1
Target ValidationMFN1
Huge Navigator MFN1 [HugePedia]
snp3D : Map Gene to Disease55669
BioCentury BCIQMFN1
ClinGenMFN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55669
Chemical/Pharm GKB GenePA134945973
Clinical trialMFN1
Miscellaneous
canSAR (ICR)MFN1 (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMFN1
EVEXMFN1
GoPubMedMFN1
iHOPMFN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:17:52 CEST 2017

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