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
LinkDB
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

DBGET integrated database retrieval system