Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55669
Gene name Gene Name - the full gene name approved by the HGNC.
Mitofusin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MFN1
Synonyms (NCBI Gene) Gene synonyms aliases
hfzo1, hfzo2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 mitochondri
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT522523 hsa-miR-520b PAR-CLIP 23446348
MIRT522522 hsa-miR-302c-3p PAR-CLIP 23446348
MIRT522521 hsa-miR-302b-3p PAR-CLIP 23446348
MIRT522520 hsa-miR-372-3p PAR-CLIP 23446348
MIRT522519 hsa-miR-520d-3p PAR-CLIP 23446348
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity IBA 21873635
GO:0003924 Function GTPase activity IDA 27920125
GO:0003924 Function GTPase activity IMP 28114303
GO:0005515 Function Protein binding IPI 19052620, 20019757, 25008184, 28514442
GO:0005525 Function GTP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608506 18262 ENSG00000171109
Protein
UniProt ID Q8IWA4
Protein name Mitofusin-1 (EC 3.6.5.-) (Fzo homolog) (Transmembrane GTPase MFN1)
Protein function Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:12475957, PubMed:12759376, PubMed:27920125, PubMed:28114303). Membrane clustering requires GTPase activity (PubMed:27920125). It may involve a major re
PDB 5GNR , 5GNS , 5GNT , 5GNU , 5GO4 , 5GOE , 5GOF , 5GOM , 5YEW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00350 Dynamin_N 78 238 Dynamin family Domain
PF04799 Fzo_mitofusin 575 735 fzo-like conserved region Family
Tissue specificity TISSUE SPECIFICITY: Detected in kidney and heart (at protein level) (PubMed:12759376). Ubiquitous (PubMed:11950885, PubMed:12759376). Expressed at slightly higher level in kidney and heart (PubMed:12759376). Isoform 2 may be overexpressed in some tumors,
Sequence
MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGY
KDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDG
DKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSP
GTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNR
WD
ASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMP
ESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNL
AAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRL
SVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENL
KPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFSLGWSSLVHRFLGPRN
AQRVLLGLSEPIFQLPRSLASTPTAPTTPATPDNASQEELMITLVTGLASVTSRTSMGII
IVGGVIWKTIGWKLLSVSLTMYGALYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSS
TSANCSHQVKQQIATTFARLCQQVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAV
QLENELENFTKQFLP
SSNEES
Sequence length 741
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mitophagy - animal
NOD-like receptor signaling pathway
Parkinson disease
Pathways of neurodegeneration - multiple diseases
  Pink/Parkin Mediated Mitophagy
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal 1, infantile rs118203975, rs118203976, rs118203977, rs267607235, rs140948465, rs1740291234, rs386833969, rs104894385, rs104894386, rs121908292, rs267606738, rs1555274312, rs119455953, rs119455954, rs119455955
View all (397 more)
21224254
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36573240
Anodontia Associate 28803425
Autism Spectrum Disorder Associate 23333625, 31018497
Breast Neoplasms Associate 23128392
Cardiomyopathy Dilated Associate 30873819
Colorectal Neoplasms Associate 28803425, 36333388
COVID 19 Associate 39549292
Diabetic Foot Associate 38287255
Esophageal Neoplasms Associate 30501006
Esophageal Squamous Cell Carcinoma Associate 30501006