KEGG   Homo sapiens (human): 55669
Entry
55669             CDS       T01001                                 

Gene name
MFN1, hfzo1, hfzo2
Definition
(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
Network
nt06421  Mitophagy
nt06463  Parkinson disease
  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
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)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55669 (MFN1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.5  Acting on GTP to facilitate cellular and subcellular movement
    3.6.5.-  
     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 Paralemmin
Other DBs
NCBI-GeneID: 55669
NCBI-ProteinID: NP_284941
OMIM: 608506
HGNC: 18262
Ensembl: ENSG00000171109
Vega: OTTHUMG00000157385
Pharos: Q8IWA4(Tbio)
UniProt: Q8IWA4
Structure
PDB: 

Position
3q26.33
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

KEGG   Homo sapiens (human): 9927
Entry
9927              CDS       T01001                                 

Gene name
MFN2, CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF
Definition
(RefSeq) mitofusin 2
  KO
K06030  mitofusin 2 [EC:3.6.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa04621  NOD-like receptor signaling pathway
hsa05012  Parkinson disease
Network
nt06421  Mitophagy
nt06463  Parkinson disease
  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
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    9927 (MFN2)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    9927 (MFN2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05012 Parkinson disease
    9927 (MFN2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    9927 (MFN2)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    9927 (MFN2)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.5  Acting on GTP to facilitate cellular and subcellular movement
    3.6.5.-  
     9927 (MFN2)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Mitophagy
   PINK1-Parkin associated proteins
    9927 (MFN2)
  Other autophagy associated proteins
   ER-mitochondria tethering complex
    9927 (MFN2)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Fission and Fusion factors
    9927 (MFN2)
SSDB
Motif
Pfam: Fzo_mitofusin Dynamin_N MMR_HSR1 GTP_EFTU Streptin-Immun
Other DBs
NCBI-GeneID: 9927
NCBI-ProteinID: NP_001121132
OMIM: 608507
HGNC: 16877
Ensembl: ENSG00000116688
Vega: OTTHUMG00000002392
Pharos: O95140(Tbio)
UniProt: O95140
Position
1p36.22
AA seq 757 aa
MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDT
YRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDK
VLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVS
VMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHF
FHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDR
IFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQ
HTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIK
QITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSD
RCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQED
IEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFM
VSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERA
FKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKK
IEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR
NT seq 2274 nt   +upstreamnt  +downstreamnt
atgtccctgctcttctctcgatgcaactctatcgtcacagtcaagaaaaataagagacac
atggctgaggtgaatgcatccccacttaagcactttgtcactgccaagaagaagatcaat
ggcatttttgagcagctgggggcctacatccaggagagcgccaccttccttgaagacacg
tacaggaatgcagaactggaccccgttaccacagaagaacaggttctggacgtcaaaggt
tacctatccaaagtgagaggcatcagtgaggtgctggctcggaggcacatgaaagtggct
ttttttggccggacgagcaatgggaagagcaccgtgatcaatgccatgctctgggacaaa
gttctgccctctgggattggccacaccaccaattgcttcctgcgggtagagggcacagat
ggccatgaggcctttctccttaccgagggctcagaggaaaagaggagtgccaagactgtg
aaccagctggcccatgccctccaccaggacaagcagctccatgccggcagcctagtgagt
gtgatgtggcccaactctaagtgcccacttctgaaggatgacctcgttttgatggacagc
cctggtattgatgtcaccacagagctggacagctggattgacaagttttgtctggatgct
gatgtgtttgtgctggtggccaactcagagtccaccctgatgcagacggaaaagcacttc
ttccacaaggtgagtgagcgtctctcccggccaaacatcttcatcctgaacaaccgctgg
gatgcatctgcctcagagcccgagtacatggaggaggtgcggcggcagcacatggagcgt
tgtaccagcttcctggtggatgagctgggcgtggtggatcgatcccaggccggggaccgc
atcttctttgtgtctgctaaggaggtgctcaacgccaggattcagaaagcccagggcatg
cctgaaggagggggcgctctcgcagaaggctttcaagtgaggatgtttgagtttcagaat
tttgagaggagatttgaggagtgcatctcccagtctgcagtgaagaccaagtttgagcag
cacacggtccgggccaagcagattgcagaggcggttcgactcatcatggactccctgcac
atggcggctcgggagcagcaggtttactgcgaggaaatgcgtgaagagcggcaagaccga
ctgaaatttattgacaaacagctggagctcttggctcaagactataagctgcgaattaag
cagattacggaggaagtggagaggcaggtgtcgactgcaatggccgaggagatcaggcgc
ctctctgtactggtggacgattaccagatggacttccacccttctccagtagtcctcaag
gtttataagaatgagctgcaccgccacatagaggaaggactgggtcgaaacatgtctgac
cgctgctccacggccatcaccaactccctgcagaccatgcagcaggacatgatagatggc
ttgaaacccctccttcctgtgtctgtgcggagtcagatagacatgctggtcccacgccag
tgcttctccctcaactatgacctaaactgtgacaagctgtgtgctgacttccaggaagac
attgagttccatttctctctcggatggaccatgctggtgaataggttcctgggccccaag
aacagccgtcgggccttgatgggctacaatgaccaggtccagcgtcccatccctctgacg
ccagccaaccccagcatgcccccactgccacagggctcgctcacccaggaggagttcatg
gtttccatggttaccggcctggcctccttgacatccaggacctccatgggcattcttgtt
gttggaggagtggtgtggaaggcagtgggctggcggctcattgccctctcctttgggctc
tatggcctcctctacgtctatgagcgtctgacctggaccaccaaggccaaggagagggcc
ttcaagcgccagtttgtggagcatgccagcgagaagctgcagcttgtcatcagctacact
ggctccaactgcagccaccaagtccagcaggaactgtctgggacctttgctcatctgtgt
cagcaagttgacgtcacccgggagaacctggagcaggaaattgccgccatgaacaagaaa
attgaggttcttgactcacttcagagcaaagcaaagctgctcaggaataaagccggttgg
ttggacagtgagctcaacatgttcacacaccagtacctgcagcccagcagatag

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