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MFN1 mitofusin 1 [ Homo sapiens (human) ]

Gene ID: 55669, updated on 3-Jun-2018
Official Symbol
MFN1provided by HGNC
Official Full Name
mitofusin 1provided by HGNC
Primary source
HGNC:HGNC:18262
See related
Ensembl:ENSG00000171109 MIM:608506; Vega:OTTHUMG00000157385
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hfzo1; hfzo2
Summary
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. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in heart (RPKM 9.7), prostate (RPKM 9.7) and 25 other tissues See more
Orthologs
See MFN1 in Genome Data Viewer
Location:
3q26.33
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (179347692..179393226)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179065480..179111014)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene potassium calcium-activated channel subfamily M regulatory beta subunit 3 Neighboring gene LRR binding FLII interacting protein 1 pseudogene 1 Neighboring gene zinc finger protein 639 Neighboring gene G protein subunit beta 4 Neighboring gene translation machinery-associated protein 7 pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Mitophagy, organism-specific biosystem (from REACTOME)
    Mitophagy, organism-specific biosystemMitophagy is a specific form of autophagy where mitochondria are specifically targeted for degradation by autophagolysosomes.. In mammals there are a number of known mechanisms of mitophagy. One insu...
  • Mitophagy - animal, organism-specific biosystem (from KEGG)
    Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Mitophagy - animal, conserved biosystem (from KEGG)
    Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Pink/Parkin Mediated Mitophagy, organism-specific biosystem (from REACTOME)
    Pink/Parkin Mediated Mitophagy, organism-specific biosystemThis is the process of selective removal of damaged mitochondria by autophagosomes and subsequent catabolism by lysosomes. In healthy mitochondria, PINK1 is imported to the inner mitochondrial membra...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ20693, MGC41806, DKFZp762F247

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
GTP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
macroautophagy TAS
Traceable Author Statement
more info
 
mitochondrial fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial fusion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial membrane fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
intrinsic component of mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
outer mitochondrial membrane protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
mitofusin-1
Names
fzo homolog
mitochondrial transmembrane GTPase FZO-2
mitochondrial transmembrane GTPase Fzo-1
putative transmembrane GTPase
transmembrane GTPase MFN1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_033540.2NP_284941.2  mitofusin-1

    See identical proteins and their annotated locations for NP_284941.2

    Status: REVIEWED

    Source sequence(s)
    AI656503, AK000700, BC040557
    Consensus CDS
    CCDS3228.1
    UniProtKB/Swiss-Prot
    Q8IWA4
    UniProtKB/TrEMBL
    A0A0C4DFN1
    Related
    ENSP00000420617.1, OTTHUMP00000212064, ENST00000471841.5, OTTHUMT00000348654
    Conserved Domains (2) summary
    cd09912
    Location:76328
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:575734
    Fzo_mitofusin; fzo-like conserved region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    179347692..179393226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247596.4XP_005247653.2  mitofusin-1 isoform X1

    See identical proteins and their annotated locations for XP_005247653.2

    UniProtKB/Swiss-Prot
    Q8IWA4
    UniProtKB/TrEMBL
    A0A0C4DFN1
    Related
    ENSP00000263969.5, ENST00000263969.9
    Conserved Domains (2) summary
    cd09912
    Location:76328
    DLP_2; Dynamin-like protein including dynamins, mitofusins, and guanylate-binding proteins
    pfam04799
    Location:575734
    Fzo_mitofusin; fzo-like conserved region
  2. XM_011512963.3XP_011511265.1  mitofusin-1 isoform X2

    Related
    ENSP00000419926.1, OTTHUMP00000212067, ENST00000474903.1
    Conserved Domains (2) summary
    pfam04799
    Location:428587
    Fzo_mitofusin; fzo-like conserved region
    cl21455
    Location:23181
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017927.2: Suppressed sequence

    Description
    NM_017927.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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