KEGG   Homo sapiens (human): 6647
Entry
6647              CDS       T01001                                 

Gene name
SOD1, ALS, ALS1, HEL-S-44, IPOA, SOD, STAHP, hSod1, homodimer
Definition
(RefSeq) superoxide dismutase 1
  KO
K04565  superoxide dismutase, Cu-Zn family [EC:1.15.1.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04146  Peroxisome
hsa04213  Longevity regulating pathway - multiple species
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06412  Unfolded protein response (UPR) signaling
nt06414  Apoptosis
nt06419  Microtubule-based transport
nt06420  Ubiquitin-proteasome system
nt06464  Amyotrophic lateral sclerosis
  Element
N01135  Mutation-caused aberrant SOD1 to intrinsic apoptotic pathway
N01144  Mutation-caused aberrant SOD1 to 26S proteasome-mediated protein degradation
N01147  Mutation-caused aberrant SOD1 to ATF6-mediated transcription
N01148  Mutation-caused aberrant SOD1 to IRE1a-XBP1 signaling pathway
N01149  Mutation-caused aberrant SOD1 to PERK-ATF4 signaling pathway
N01160  Mutation-caused aberrant SOD1 to retrograde axonal transport
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Drug target
Tofersen: D11811
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    6647 (SOD1)
 09150 Organismal Systems
  09149 Aging
   04213 Longevity regulating pathway - multiple species
    6647 (SOD1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    6647 (SOD1)
   05016 Huntington disease
    6647 (SOD1)
   05020 Prion disease
    6647 (SOD1)
   05022 Pathways of neurodegeneration - multiple diseases
    6647 (SOD1)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.15  Acting on superoxide as acceptor
   1.15.1  Acting on superoxide as acceptor (only sub-subclass identified to date)
    1.15.1.1  superoxide dismutase
     6647 (SOD1)
SSDB
Motif
Pfam: Sod_Cu
Other DBs
NCBI-GeneID: 6647
NCBI-ProteinID: NP_000445
OMIM: 147450
HGNC: 11179
Ensembl: ENSG00000142168
Vega: OTTHUMG00000084878
Pharos: P00441(Tbio)
UniProt: P00441 V9HWC9
Structure
PDB: 

Position
21q22.11
AA seq 154 aa
MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTS
AGPHFNPLSRKHGGPKDEERHVGDLGNVTADKDGVADVSIEDSVISLSGDHCIIGRTLVV
HEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ
NT seq 465 nt   +upstreamnt  +downstreamnt
atggcgacgaaggccgtgtgcgtgctgaagggcgacggcccagtgcagggcatcatcaat
ttcgagcagaaggaaagtaatggaccagtgaaggtgtggggaagcattaaaggactgact
gaaggcctgcatggattccatgttcatgagtttggagataatacagcaggctgtaccagt
gcaggtcctcactttaatcctctatccagaaaacacggtgggccaaaggatgaagagagg
catgttggagacttgggcaatgtgactgctgacaaagatggtgtggccgatgtgtctatt
gaagattctgtgatctcactctcaggagaccattgcatcattggccgcacactggtggtc
catgaaaaagcagatgacttgggcaaaggtggaaatgaagaaagtacaaagacaggaaac
gctggaagtcgtttggcttgtggtgtaattgggatcgcccaataa

KEGG   Homo sapiens (human): 6648
Entry
6648              CDS       T01001                                 

Gene name
SOD2, GClnc1, IPO-B, IPOB, MNSOD, MVCD6, Mn-SOD
Definition
(RefSeq) superoxide dismutase 2
  KO
K04564  superoxide dismutase, Fe-Mn family [EC:1.15.1.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04068  FoxO signaling pathway
hsa04146  Peroxisome
hsa04211  Longevity regulating pathway
hsa04213  Longevity regulating pathway - multiple species
hsa05016  Huntington disease
Disease
H01456  Diabetic nephropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04068 FoxO signaling pathway
    6648 (SOD2)
 09140 Cellular Processes
  09141 Transport and catabolism
   04146 Peroxisome
    6648 (SOD2)
 09150 Organismal Systems
  09149 Aging
   04211 Longevity regulating pathway
    6648 (SOD2)
   04213 Longevity regulating pathway - multiple species
    6648 (SOD2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05016 Huntington disease
    6648 (SOD2)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.15  Acting on superoxide as acceptor
   1.15.1  Acting on superoxide as acceptor (only sub-subclass identified to date)
    1.15.1.1  superoxide dismutase
     6648 (SOD2)
SSDB
Motif
Pfam: Sod_Fe_C Sod_Fe_N
Other DBs
NCBI-GeneID: 6648
NCBI-ProteinID: NP_000627
OMIM: 147460
HGNC: 11180
Ensembl: ENSG00000112096
Vega: OTTHUMG00000015940
Pharos: P04179(Tbio)
UniProt: P04179 A0A384NL29
Structure
PDB: 

Position
6q25.3
AA seq 222 aa
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGALEPHINAQIMQLHHSKHHAAYVN
NLNVTEEKYQEALAKGDVTAQIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEA
IKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLL
GIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK
NT seq 669 nt   +upstreamnt  +downstreamnt
atgttgagccgggcagtgtgcggcaccagcaggcagctggctccggttttggggtatctg
ggctccaggcagaagcacagcctccccgacctgccctacgactacggcgccctggaacct
cacatcaacgcgcagatcatgcagctgcaccacagcaagcaccacgcggcctacgtgaac
aacctgaacgtcaccgaggagaagtaccaggaggcgttggccaagggagatgttacagcc
cagatagctcttcagcctgcactgaagttcaatggtggtggtcatatcaatcatagcatt
ttctggacaaacctcagccctaacggtggtggagaacccaaaggggagttgctggaagcc
atcaaacgtgactttggttcctttgacaagtttaaggagaagctgacggctgcatctgtt
ggtgtccaaggctcaggttggggttggcttggtttcaataaggaacggggacacttacaa
attgctgcttgtccaaatcaggatccactgcaaggaacaacaggccttattccactgctg
gggattgatgtgtgggagcacgcttactaccttcagtataaaaatgtcaggcctgattat
ctaaaagctatttggaatgtaatcaactgggagaatgtaactgaaagatacatggcttgc
aaaaagtaa

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