KEGG   Homo sapiens (human): 6647
Entry
6647              CDS       T01001                                 
Symbol
SOD1, ALS, ALS1, HEL-S-44, IPOA, SOD, STAHP, hSod1, homodimer
Name
(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
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05208  Chemical carcinogenesis - reactive oxygen species
Network
nt06253  Antioxidant system
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
N01388  SOD/Cat-mediated ROS neutralization
N01389  Lead to SOD/Cat-mediated ROS neutralization
N01390  p,p'-DDT to SOD/Cat-mediated ROS neutralization
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Drug target
Tofersen: D11811<US>
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
  09161 Cancer: overview
   05208 Chemical carcinogenesis - reactive oxygen species
    6647 (SOD1)
  09164 Neurodegenerative disease
   05012 Parkinson disease
    6647 (SOD1)
   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
Pharos: P00441(Tbio)
UniProt: P00441 V9HWC9
Structure
LinkDB
Position
21:31659693..31668931
AA seq 154 aa
MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTS
AGPHFNPLSRKHGGPKDEERHVGDLGNVTADKDGVADVSIEDSVISLSGDHCIIGRTLVV
HEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ
NT seq 465 nt   +upstreamnt  +downstreamnt
atggcgacgaaggccgtgtgcgtgctgaagggcgacggcccagtgcagggcatcatcaat
ttcgagcagaaggaaagtaatggaccagtgaaggtgtggggaagcattaaaggactgact
gaaggcctgcatggattccatgttcatgagtttggagataatacagcaggctgtaccagt
gcaggtcctcactttaatcctctatccagaaaacacggtgggccaaaggatgaagagagg
catgttggagacttgggcaatgtgactgctgacaaagatggtgtggccgatgtgtctatt
gaagattctgtgatctcactctcaggagaccattgcatcattggccgcacactggtggtc
catgaaaaagcagatgacttgggcaaaggtggaaatgaagaaagtacaaagacaggaaac
gctggaagtcgtttggcttgtggtgtaattgggatcgcccaataa

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