KEGG   Homo sapiens (human): 55669
Entry
55669             CDS       T01001                                 
Symbol
MFN1, hfzo1, hfzo2
Name
(RefSeq) mitofusin 1
  KO
K21356  mitofusin 1 [EC:3.6.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa04621  NOD-like receptor signaling pathway
hsa05012  Parkinson disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06463  Parkinson disease
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
  Element
N01052  PINK1-Parkin-mediated MFN2 degradation
N01053  Mutation-inactivated PINK1 to PINK1-Parkin-mediated MFN2 degradation
N01054  Mutation-inactivated PRKN to PINK1-Parkin-mediated MFN2 degradation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01759  INK1-Parkin-mediated MFN2 degradation, VCP-OPA1
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    55669 (MFN1)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    55669 (MFN1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05012 Parkinson disease
    55669 (MFN1)
   05022 Pathways of neurodegeneration - multiple diseases
    55669 (MFN1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55669 (MFN1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Fission and Fusion factors
    55669 (MFN1)
SSDB
Motif
Pfam: Fzo_mitofusin Dynamin_N MMR_HSR1
Other DBs
NCBI-GeneID: 55669
NCBI-ProteinID: NP_284941
OMIM: 608506
HGNC: 18262
Ensembl: ENSG00000171109
UniProt: Q8IWA4
Structure
Position
3:179347709..179394936
AA seq 741 aa
MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGY
KDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDG
DKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSP
GTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNRWD
ASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMP
ESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNL
AAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRL
SVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENL
KPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFSLGWSSLVHRFLGPRN
AQRVLLGLSEPIFQLPRSLASTPTAPTTPATPDNASQEELMITLVTGLASVTSRTSMGII
IVGGVIWKTIGWKLLSVSLTMYGALYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSS
TSANCSHQVKQQIATTFARLCQQVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAV
QLENELENFTKQFLPSSNEES
NT seq 2226 nt   +upstreamnt  +downstreamnt
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (4)   
   KEGG PATHWAY (4)   
Network (8)   
   KEGG NETWORK (8)   
Disease (1)   
   OMIM (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (28)   
   RefSeq(nuc) (6)   
   GenBank (11)   
   EMBL (11)   
3D Structure (9)   
   PDB (9)   
Protein domain (3)   
   Pfam (3)   
All databases (78)   

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