Homo sapiens (human): 55669
Help
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
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)
05022 Pathways of neurodegeneration - multiple diseases
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Fzo_mitofusin
Dynamin_N
MMR_HSR1
Motif
Other DBs
NCBI-GeneID:
55669
NCBI-ProteinID:
NP_284941
OMIM:
608506
HGNC:
18262
Ensembl:
ENSG00000171109
Pharos:
Q8IWA4
(Tbio)
UniProt:
Q8IWA4
Structure
PDB
LinkDB
All DBs
Position
3:179347709..179394936
Genome browser
AA seq
741 aa
AA seq
DB search
MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGY
KDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGIGHITNCFLSVEGTDG
DKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSP
GTDVTTELDSWIDKFCLDADVFVLVANSESTLMNTEKHFFHKVNERLSKPNIFILNNRWD
ASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMP
ESGVALAEGFHARLQEFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNL
AAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRL
SVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENL
KPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFSLGWSSLVHRFLGPRN
AQRVLLGLSEPIFQLPRSLASTPTAPTTPATPDNASQEELMITLVTGLASVTSRTSMGII
IVGGVIWKTIGWKLLSVSLTMYGALYLYERLSWTTHAKERAFKQQFVNYATEKLRMIVSS
TSANCSHQVKQQIATTFARLCQQVDITQKQLEEEIARLPKEIDQLEKIQNNSKLLRNKAV
QLENELENFTKQFLPSSNEES
NT seq
2226 nt
NT seq
+upstream
nt +downstream
nt
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
Homo sapiens (human): 9927
Help
Entry
9927 CDS
T01001
Symbol
MFN2, CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF
Name
(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
hsa05022
Pathways of neurodegeneration - multiple diseases
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)
05022 Pathways of neurodegeneration - multiple diseases
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Fzo_mitofusin
Dynamin_N
MMR_HSR1
GTP_EFTU
Streptin-Immun
Motif
Other DBs
NCBI-GeneID:
9927
NCBI-ProteinID:
NP_001121132
OMIM:
608507
HGNC:
16877
Ensembl:
ENSG00000116688
Pharos:
O95140
(Tbio)
UniProt:
O95140
Structure
PDB
LinkDB
All DBs
Position
1:11980444..12013508
Genome browser
AA seq
757 aa
AA seq
DB search
MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDT
YRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDK
VLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVS
VMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHF
FHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDR
IFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQ
HTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIK
QITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSD
RCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQED
IEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFM
VSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERA
FKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKK
IEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR
NT seq
2274 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system