Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6647
Gene name Gene Name - the full gene name approved by the HGNC.	Superoxide dismutase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SOD1
Synonyms (NCBI Gene) Gene synonyms aliases	ALS, ALS1, HEL-S-44, IPOA, SOD, STAHP, hSod1, homodimer
Chromosome Chromosome number	21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	21q22.11
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuri

Show/Hide all(30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11556620	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs74315452	T>C	Pathogenic	Missense variant, coding sequence variant
rs76731700	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs80265967	A>C,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs121912431	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121912432	C>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121912433	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912434	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912435	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912436	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121912437	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs121912438	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs121912439	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912440	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121912441	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912443	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912445	A>T	Pathogenic	Missense variant, coding sequence variant
rs121912452	T>C,G	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs121912455	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121912457	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs121912458	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912459	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs369600566	A>G	Pathogenic	Intron variant
rs1197141604	T>G	Pathogenic	Intron variant
rs1301635320	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1378590183	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555836803	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1568809172	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1568810771	->G	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1601157750	G>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(164)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000992	hsa-miR-377-3p	Luciferase reporter assay, Western blot	18716028
MIRT000992	hsa-miR-377-3p	Luciferase reporter assay,	21203553
MIRT048056	hsa-miR-197-3p	CLASH	23622248
MIRT043913	hsa-miR-378a-3p	CLASH	23622248
MIRT734538	hsa-miR-6823-5p	Western blotting, qRT-PCR	33649776
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT1379148	hsa-miR-1245b-3p	CLIP-seq
MIRT1379149	hsa-miR-1284	CLIP-seq
MIRT1379150	hsa-miR-139-5p	CLIP-seq
MIRT1379151	hsa-miR-224	CLIP-seq
MIRT1379152	hsa-miR-300	CLIP-seq
MIRT1379153	hsa-miR-361-5p	CLIP-seq
MIRT1379154	hsa-miR-3658	CLIP-seq
MIRT1379155	hsa-miR-3660	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379157	hsa-miR-374c	CLIP-seq
MIRT1379158	hsa-miR-377	CLIP-seq
MIRT1379159	hsa-miR-381	CLIP-seq
MIRT1379160	hsa-miR-3936	CLIP-seq
MIRT1379161	hsa-miR-409-3p	CLIP-seq
MIRT1379162	hsa-miR-4256	CLIP-seq
MIRT1379163	hsa-miR-4275	CLIP-seq
MIRT1379164	hsa-miR-4422	CLIP-seq
MIRT1379165	hsa-miR-4424	CLIP-seq
MIRT1379166	hsa-miR-4470	CLIP-seq
MIRT1379167	hsa-miR-4494	CLIP-seq
MIRT1379168	hsa-miR-4526	CLIP-seq
MIRT1379169	hsa-miR-4666-3p	CLIP-seq
MIRT1379170	hsa-miR-4682	CLIP-seq
MIRT1379171	hsa-miR-4690-5p	CLIP-seq
MIRT1379172	hsa-miR-4714-5p	CLIP-seq
MIRT1379173	hsa-miR-4762-5p	CLIP-seq
MIRT1379174	hsa-miR-4766-5p	CLIP-seq
MIRT1379175	hsa-miR-494	CLIP-seq
MIRT1379176	hsa-miR-499a-5p	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379178	hsa-miR-582-5p	CLIP-seq
MIRT1379179	hsa-miR-616	CLIP-seq
MIRT1379180	hsa-miR-621	CLIP-seq
MIRT1379181	hsa-miR-655	CLIP-seq
MIRT2113212	hsa-miR-1229	CLIP-seq
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT1379148	hsa-miR-1245b-3p	CLIP-seq
MIRT1379150	hsa-miR-139-5p	CLIP-seq
MIRT1379151	hsa-miR-224	CLIP-seq
MIRT1379153	hsa-miR-361-5p	CLIP-seq
MIRT1379154	hsa-miR-3658	CLIP-seq
MIRT1379155	hsa-miR-3660	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379157	hsa-miR-374c	CLIP-seq
MIRT1379160	hsa-miR-3936	CLIP-seq
MIRT1379161	hsa-miR-409-3p	CLIP-seq
MIRT1379162	hsa-miR-4256	CLIP-seq
MIRT2113213	hsa-miR-4328	CLIP-seq
MIRT1379164	hsa-miR-4422	CLIP-seq
MIRT1379165	hsa-miR-4424	CLIP-seq
MIRT1379167	hsa-miR-4494	CLIP-seq
MIRT1379168	hsa-miR-4526	CLIP-seq
MIRT1379171	hsa-miR-4690-5p	CLIP-seq
MIRT1379172	hsa-miR-4714-5p	CLIP-seq
MIRT1379174	hsa-miR-4766-5p	CLIP-seq
MIRT1379176	hsa-miR-499a-5p	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379178	hsa-miR-582-5p	CLIP-seq
MIRT1379180	hsa-miR-621	CLIP-seq
MIRT1379181	hsa-miR-655	CLIP-seq
MIRT2113212	hsa-miR-1229	CLIP-seq
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT1379148	hsa-miR-1245b-3p	CLIP-seq
MIRT1379149	hsa-miR-1284	CLIP-seq
MIRT1379150	hsa-miR-139-5p	CLIP-seq
MIRT1379151	hsa-miR-224	CLIP-seq
MIRT1379152	hsa-miR-300	CLIP-seq
MIRT2336333	hsa-miR-3163	CLIP-seq
MIRT1379153	hsa-miR-361-5p	CLIP-seq
MIRT1379154	hsa-miR-3658	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379158	hsa-miR-377	CLIP-seq
MIRT1379159	hsa-miR-381	CLIP-seq
MIRT1379160	hsa-miR-3936	CLIP-seq
MIRT1379161	hsa-miR-409-3p	CLIP-seq
MIRT1379163	hsa-miR-4275	CLIP-seq
MIRT2113213	hsa-miR-4328	CLIP-seq
MIRT1379165	hsa-miR-4424	CLIP-seq
MIRT1379167	hsa-miR-4494	CLIP-seq
MIRT1379169	hsa-miR-4666-3p	CLIP-seq
MIRT2336334	hsa-miR-4679	CLIP-seq
MIRT1379171	hsa-miR-4690-5p	CLIP-seq
MIRT1379173	hsa-miR-4762-5p	CLIP-seq
MIRT1379176	hsa-miR-499a-5p	CLIP-seq
MIRT2336335	hsa-miR-548a-3p	CLIP-seq
MIRT2336336	hsa-miR-548e	CLIP-seq
MIRT2336337	hsa-miR-548f	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379178	hsa-miR-582-5p	CLIP-seq
MIRT1379180	hsa-miR-621	CLIP-seq
MIRT1379150	hsa-miR-139-5p	CLIP-seq
MIRT1379153	hsa-miR-361-5p	CLIP-seq
MIRT1379154	hsa-miR-3658	CLIP-seq
MIRT1379161	hsa-miR-409-3p	CLIP-seq
MIRT1379171	hsa-miR-4690-5p	CLIP-seq
MIRT1379178	hsa-miR-582-5p	CLIP-seq
MIRT1379180	hsa-miR-621	CLIP-seq
MIRT2113212	hsa-miR-1229	CLIP-seq
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT2630214	hsa-miR-1264	CLIP-seq
MIRT1379149	hsa-miR-1284	CLIP-seq
MIRT1379152	hsa-miR-300	CLIP-seq
MIRT2630215	hsa-miR-3128	CLIP-seq
MIRT2336333	hsa-miR-3163	CLIP-seq
MIRT2630216	hsa-miR-340	CLIP-seq
MIRT1379155	hsa-miR-3660	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379157	hsa-miR-374c	CLIP-seq
MIRT1379159	hsa-miR-381	CLIP-seq
MIRT1379162	hsa-miR-4256	CLIP-seq
MIRT2113213	hsa-miR-4328	CLIP-seq
MIRT1379166	hsa-miR-4470	CLIP-seq
MIRT1379168	hsa-miR-4526	CLIP-seq
MIRT1379169	hsa-miR-4666-3p	CLIP-seq
MIRT2630217	hsa-miR-4677-3p	CLIP-seq
MIRT2336334	hsa-miR-4679	CLIP-seq
MIRT1379170	hsa-miR-4682	CLIP-seq
MIRT2630218	hsa-miR-4720-5p	CLIP-seq
MIRT1379173	hsa-miR-4762-5p	CLIP-seq
MIRT2630219	hsa-miR-4799-3p	CLIP-seq
MIRT1379175	hsa-miR-494	CLIP-seq
MIRT2336335	hsa-miR-548a-3p	CLIP-seq
MIRT2336336	hsa-miR-548e	CLIP-seq
MIRT2336337	hsa-miR-548f	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379179	hsa-miR-616	CLIP-seq
MIRT1379181	hsa-miR-655	CLIP-seq
MIRT2630220	hsa-miR-660	CLIP-seq
MIRT1379147	hsa-miR-1245	CLIP-seq
MIRT2630214	hsa-miR-1264	CLIP-seq
MIRT1379149	hsa-miR-1284	CLIP-seq
MIRT1379152	hsa-miR-300	CLIP-seq
MIRT2630215	hsa-miR-3128	CLIP-seq
MIRT2336333	hsa-miR-3163	CLIP-seq
MIRT2630216	hsa-miR-340	CLIP-seq
MIRT1379155	hsa-miR-3660	CLIP-seq
MIRT1379156	hsa-miR-3691-3p	CLIP-seq
MIRT1379157	hsa-miR-374c	CLIP-seq
MIRT1379159	hsa-miR-381	CLIP-seq
MIRT1379162	hsa-miR-4256	CLIP-seq
MIRT2113213	hsa-miR-4328	CLIP-seq
MIRT1379166	hsa-miR-4470	CLIP-seq
MIRT1379168	hsa-miR-4526	CLIP-seq
MIRT1379169	hsa-miR-4666-3p	CLIP-seq
MIRT2630217	hsa-miR-4677-3p	CLIP-seq
MIRT2336334	hsa-miR-4679	CLIP-seq
MIRT1379170	hsa-miR-4682	CLIP-seq
MIRT2630218	hsa-miR-4720-5p	CLIP-seq
MIRT1379173	hsa-miR-4762-5p	CLIP-seq
MIRT2630219	hsa-miR-4799-3p	CLIP-seq
MIRT1379175	hsa-miR-494	CLIP-seq
MIRT2336335	hsa-miR-548a-3p	CLIP-seq
MIRT2336336	hsa-miR-548e	CLIP-seq
MIRT2336337	hsa-miR-548f	CLIP-seq
MIRT1379177	hsa-miR-552	CLIP-seq
MIRT1379179	hsa-miR-616	CLIP-seq
MIRT1379181	hsa-miR-655	CLIP-seq
MIRT2630220	hsa-miR-660	CLIP-seq

Transcription factors

Show/Hide all(9)

Transcription factor	Regulation	Reference
CEBPD	Activation	20385105
EGR1	Activation	9867871
KLF4	Repression	23370975
MSX2	Activation	22824755
MTF1	Activation	15378601
NFE2L2	Activation	22493435
PPARD	Activation	18048767
SP1	Activation	8921911;9867871
SP1	Repression	11724400

Show/Hide all(158)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000302	Process	Response to reactive oxygen species	IEA
GO:0000303	Process	Response to superoxide	IDA	16790527
GO:0000303	Process	Response to superoxide	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001541	Process	Ovarian follicle development	ISS
GO:0001819	Process	Positive regulation of cytokine production	IDA	15544046
GO:0001890	Process	Placenta development	NAS	12485882
GO:0001895	Process	Retina homeostasis	IEA
GO:0001895	Process	Retina homeostasis	ISS
GO:0001975	Process	Response to amphetamine	IEA
GO:0002262	Process	Myeloid cell homeostasis	IEA
GO:0002262	Process	Myeloid cell homeostasis	ISS
GO:0004784	Function	Superoxide dismutase activity	IBA
GO:0004784	Function	Superoxide dismutase activity	IDA	12551919, 15544046, 17324120, 24140062, 24567322
GO:0004784	Function	Superoxide dismutase activity	IEA
GO:0005507	Function	Copper ion binding	IBA
GO:0005507	Function	Copper ion binding	IDA	17008312
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12968035, 16369483, 16595634, 16790527, 19171884, 20195357, 21252941, 22508683, 24023695, 24234043, 24981860, 26643113, 28514442, 29128334, 31292775, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	9453566
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	1332049, 9726962, 17504823, 22496122, 24023695
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	1332049, 9726962, 11527942, 17077646, 17504823, 18809582, 19741096, 24023695, 24784232
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	16790527, 19741096
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005759	Component	Mitochondrial matrix	NAS	17008312
GO:0005764	Component	Lysosome	IEA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	1332049
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	ISS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	16790527
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	17077646, 17324120
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0006749	Process	Glutathione metabolic process	ISS
GO:0006801	Process	Superoxide metabolic process	IDA	12551919
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	ISS
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	ISS
GO:0006915	Process	Apoptotic process	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007566	Process	Embryo implantation	IEA
GO:0007566	Process	Embryo implantation	ISS
GO:0007566	Process	Embryo implantation	NAS	10920331
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	ISS
GO:0007626	Process	Locomotory behavior	IEA
GO:0007626	Process	Locomotory behavior	ISS
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS	20510358
GO:0008090	Process	Retrograde axonal transport	IEA
GO:0008090	Process	Retrograde axonal transport	ISS	20510358
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0008270	Function	Zinc ion binding	IDA	17381088
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0009408	Process	Response to heat	IEA
GO:0009408	Process	Response to heat	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016209	Function	Antioxidant activity	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0019226	Process	Transmission of nerve impulse	ISS
GO:0019228	Process	Neuronal action potential	IEA
GO:0019430	Process	Removal of superoxide radicals	IBA
GO:0019430	Process	Removal of superoxide radicals	IDA	16254550, 24567322
GO:0019430	Process	Removal of superoxide radicals	IEA
GO:0019430	Process	Removal of superoxide radicals	IEA
GO:0019430	Process	Removal of superoxide radicals	ISS
GO:0019899	Function	Enzyme binding	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030346	Function	Protein phosphatase 2B binding	IDA	17324120
GO:0030346	Function	Protein phosphatase 2B binding	IEA
GO:0031045	Component	Dense core granule	IEA
GO:0031267	Function	Small GTPase binding	IDA	18219391
GO:0031410	Component	Cytoplasmic vesicle	IDA	17077646
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032287	Process	Peripheral nervous system myelin maintenance	IEA
GO:0032287	Process	Peripheral nervous system myelin maintenance	ISS
GO:0032839	Component	Dendrite cytoplasm	IDA	17324120
GO:0032930	Process	Positive regulation of superoxide anion generation	IDA	18219391
GO:0032991	Component	Protein-containing complex	IDA	17324120
GO:0032991	Component	Protein-containing complex	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	NAS	16716898
GO:0034465	Process	Response to carbon monoxide	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0035865	Process	Cellular response to potassium ion	IEA
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0040014	Process	Regulation of multicellular organism growth	ISS
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042542	Process	Response to hydrogen peroxide	ISS
GO:0042554	Process	Superoxide anion generation	IEA
GO:0042802	Function	Identical protein binding	IPI	17592131, 19022905, 19171884, 19369197, 19828437, 21257910, 23831581, 26643113, 31999698
GO:0042803	Function	Protein homodimerization activity	IPI	24567322
GO:0043025	Component	Neuronal cell body	IDA	17324120
GO:0043025	Component	Neuronal cell body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IC	16790527
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043087	Process	Regulation of GTPase activity	IDA	18219391
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0045471	Process	Response to ethanol	IEA
GO:0045471	Process	Response to ethanol	ISS
GO:0046620	Process	Regulation of organ growth	NAS	16716898
GO:0046688	Process	Response to copper ion	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048538	Process	Thymus development	NAS	16716898
GO:0048678	Process	Response to axon injury	IEA
GO:0048678	Process	Response to axon injury	ISS
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IDA	15544046
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	ISS
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	9726962
GO:0051093	Process	Negative regulation of developmental process	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	16790527
GO:0060047	Process	Heart contraction	IDA	9539776
GO:0060047	Process	Heart contraction	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	IEA
GO:0060052	Process	Neurofilament cytoskeleton organization	ISS
GO:0060087	Process	Relaxation of vascular associated smooth muscle	IEA
GO:0060087	Process	Relaxation of vascular associated smooth muscle	ISS
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:0071318	Process	Cellular response to ATP	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IDA	24140062
GO:0097332	Process	Response to antipsychotic drug	IEA
GO:0099610	Process	Action potential initiation	IEA
GO:1902177	Process	Positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	12551919
GO:1904115	Component	Axon cytoplasm	IEA
GO:2000242	Process	Negative regulation of reproductive process	IEA

MIM	HGNC	e!Ensembl
147450	11179	ENSG00000142168

Protein

UniProt ID

P00441

Protein name

Superoxide dismutase [Cu-Zn] (EC 1.15.1.1) (Superoxide dismutase 1) (hSod1)

Protein function

Destroys radicals which are normally produced within the cells and which are toxic to biological systems.

PDB

1AZV , 1BA9 , 1DSW , 1FUN , 1HL4 , 1HL5 , 1KMG , 1L3N , 1MFM , 1N18 , 1N19 , 1OEZ , 1OZT , 1OZU , 1P1V , 1PTZ , 1PU0 , 1RK7 , 1SOS , 1SPD , 1UXL , 1UXM , 2AF2 , 2C9S , 2C9U , 2C9V , 2GBT , 2GBU , 2GBV , 2LU5 , 2MP3 , 2NAM , 2NNX , 2R27 , 2V0A , 2VR6 , 2VR7 , 2VR8 , 2WKO , 2WYT , 2WYZ , 2WZ0 , 2WZ5 , 2WZ6 , 2XJK , 2XJL , 2ZKW , 2ZKX , 2ZKY , 3CQP , 3CQQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00080	Sod_Cu	9 → 150	Copper/zinc superoxide dismutase (SODC)	Domain

Sequence

MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTS
AGPHFNPLSRKHGGPKDEERHVGDLGNVTADKDGVADVSIEDSVISLSGDHCIIGRTLVV
HEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ

Sequence length

154

Interactions

View interactions

	KEGG		Reactome
	Peroxisome Longevity regulating pathway - multiple species Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species		Platelet degranulation Detoxification of Reactive Oxygen Species Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis type 1, amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 10	rs1555836803, rs2049594204, rs121912450, rs121912432, rs121912441, rs74315452, rs1378590183, rs2049594311, rs121912451, rs121912433, rs121912442, rs1568810641, rs121912452, rs121912434, rs1601157750 View all (37 more)	N/A
Motor Neuron Disease	motor neuron disease	rs121912439, rs121912441, rs1131690781, rs121912437, rs121912431	N/A

Show/Hide Text Mining Associations (278)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
AA amyloidosis	Inhibit	14997933
AA amyloidosis	Associate	16798882, 19325915, 24344300, 27496206, 28585802
Abortion Habitual	Inhibit	26821085
Acromegaly	Associate	29046499
Adenocarcinoma	Associate	17409931
Adenocarcinoma of Lung	Associate	16551617, 21930909, 31847905
Adenoma	Associate	10363564
Adenomyosis	Associate	10428161
AIDS Dementia Complex	Associate	19101040
Alcoholic Neuropathy	Associate	40219902
Alzheimer Disease	Associate	19478559, 22009041, 22242180, 26166206, 30068908, 31370365, 32485097, 40691194, 8546216
Amyotrophic Lateral Sclerosis	Associate	10102580, 10467139, 11461956, 11518706, 11561030, 12067230, 12122184, 12145308, 12356748, 12423246, 12482932, 12773627, 12930974, 14734542, 14981234 View all (254 more)
Amyotrophic lateral sclerosis 1	Associate	10102580, 10461909, 11181815, 11413228, 11461956, 11518706, 11701756, 11706389, 11854285, 12393885, 12437573, 12649272, 12773627, 12830400, 12858291 View all (95 more)
Anemia Sickle Cell	Inhibit	19951064, 30010491, 32170816, 40657454
Aneuploidy	Associate	145179
Anodontia	Stimulate	28578351
Aortic Aneurysm Abdominal	Associate	36097781, 37737183
Aortic Aneurysm Thoracic	Associate	32273946, 40436996
Aortic Valve Insufficiency	Associate	28185644
Apical Hypertrophic Cardiomyopathy	Associate	31799682
Arthritis Juvenile	Associate	26924871
Asthenozoospermia	Associate	18287793
Asthenozoospermia	Inhibit	21575935
Ataxia	Associate	9876871
Atherosclerosis	Associate	37324184, 40404675
Atrophy	Associate	20075587
Barrett Esophagus	Inhibit	15884106
Bell Palsy	Associate	40219902
Benign Paroxysmal Positional Vertigo	Inhibit	32391546
Bicuspid Aortic Valve Disease	Associate	28185644
Breast Neoplasms	Associate	18258688, 24448804, 29333087, 32767328, 32920119, 35906899, 37070912
Candidiasis Oral	Associate	14766904
Cap Myopathy	Associate	23475579
Carcinogenesis	Associate	21940907
Carcinoma Basal Cell	Associate	27057281, 29333087
Carcinoma Bronchogenic	Associate	16255782
Carcinoma Hepatocellular	Associate	15520498, 20953194, 24344300, 25306968, 27378311, 28291249, 37924725
Carcinoma Hepatocellular	Stimulate	27227932
Carcinoma Non Small Cell Lung	Associate	22299584, 37548102
Cardiomyopathies	Associate	31115025, 31799682
Cardiovascular Diseases	Associate	25149881, 34369277, 36012132
Carotid Artery Diseases	Associate	40404675
Cataract	Inhibit	21921984, 23781296
Cataract	Associate	23970468
Cell Transformation Neoplastic	Associate	12773543
Cerebellar Diseases	Associate	31332433
Cerebral Infarction	Associate	33646985, 36802116
Cerebral Infarction	Inhibit	38245621
Charcot Marie Tooth Disease	Associate	36316849
Cholangiocarcinoma	Associate	34320944
Chromosomal Instability	Associate	24002644
Chromosome 17q21.31 Deletion Syndrome	Associate	34286667
Chromosome 21 monosomy	Associate	7611297
Chronic Limb Threatening Ischemia	Inhibit	25977470
Cognition Disorders	Associate	19101040, 28448084, 34380534, 35985819, 39258714
Cognitive Dysfunction	Associate	34380534
Colorectal Neoplasms	Associate	21622897, 24002644, 26318585, 27902462, 37373014
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	26694608
Conversion Disorder	Associate	9876871
Copper deficiency familial benign	Associate	8910456
Corneal dystrophy Avellino type	Associate	19497990
Coronary Artery Disease	Associate	23055813
Coronary Disease	Associate	27067415
COVID 19	Associate	36493512
Crohn Disease	Associate	33882797
Crohn Disease	Inhibit	34779380
Cystic Fibrosis	Associate	21931865
Death	Associate	32014991
Deglutition Disorders	Associate	34380534, 9876871
Dementia Vascular	Associate	24448401
Diabetes Gestational	Associate	23046386, 27736899, 34118857
Diabetes Mellitus	Associate	25790544, 32215181, 33761612, 37754589
Diabetes Mellitus Type 1	Associate	20191117, 20360867, 32221364, 33761612
Diabetes Mellitus Type 2	Associate	22718504, 23941231, 27667694, 30909159, 32049633, 33761612
Diabetes Mellitus Type 2	Inhibit	33426802
Diabetic Foot	Associate	37758743
Diabetic Nephropathies	Associate	17914031, 20191117
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	35081536, 37895018
Diffuse Neurofibrillary Tangles with Calcification	Associate	7673954
Disease	Stimulate	3805316
Distal Myopathies	Associate	31695223
DNA Virus Infections	Associate	31947708
Down Syndrome	Associate	10438727, 11181815, 12943237, 1826326, 2143053, 22009041, 23180588, 25852816, 26166206, 28019128, 30031727, 6210775, 6445984, 6577438
Down Syndrome	Stimulate	145179
Drug Related Side Effects and Adverse Reactions	Associate	11854285, 12067230, 14981234, 15520498, 16020530, 17394531, 19635794, 21257910, 21554318, 22558346, 24143259, 25306968, 27074676, 27378311, 27667694 View all (13 more)
Dupuytren Contracture	Associate	7611297
Dysarthria	Associate	9876871
Dysentery Bacillary	Inhibit	10816520
Dyslipidemias	Associate	32559230
Epilepsy	Associate	20226689
Epilepsy Temporal Lobe	Associate	24220630
Erysipelas	Associate	28512644
Esophageal Diseases	Inhibit	15884106
Esophagitis	Inhibit	15884106
Exanthema	Stimulate	16879248
Familial duodenal atresia	Associate	1531166
Familial Primary Pulmonary Hypertension	Inhibit	22973467
Fetal Growth Retardation	Associate	19779107
Fever	Inhibit	38350654
Fibromyalgia	Associate	24817295
Fibrosis	Associate	36592929
Freiberg's disease	Inhibit	25790544
Frontotemporal Dementia	Associate	22692064, 30992335, 35985819
Frontotemporal Lobar Degeneration	Associate	25917047
Galactosemias	Associate	23828587
Gallbladder Neoplasms	Associate	23009611
Gastroesophageal Reflux	Associate	15884106
Genetic Diseases Inborn	Associate	7608718
Glioblastoma	Associate	28097126
Glioma	Associate	18790046, 19423540, 36809279
Gliosis	Associate	36385230
Hashimoto Disease	Associate	33916948
Heart Diseases	Stimulate	31731058
Helicobacter Infections	Inhibit	35268019
Hematologic Diseases	Associate	32767328
Hematologic Neoplasms	Associate	32767328
Hepatic Adenomas Familial	Associate	17548825, 19411082, 21944779, 24344300, 28291249
Hepatolenticular Degeneration	Associate	39809184
Hereditary Sensory and Motor Neuropathy	Associate	36316849
Heredodegenerative Disorders Nervous System	Associate	8575445
Hypercholesterolemia	Associate	15473258
Hyperekplexia	Associate	31332433
Hypertension	Associate	25149881, 33973418
Hypertension Pulmonary	Inhibit	28514291
Hypoxia	Stimulate	23812845, 33725925
Hypoxia	Inhibit	24316428, 30137220, 33174051, 40222298
Hypoxia	Associate	8546216
Hypoxia Brain	Associate	26599430
Immunologic Deficiency Syndromes	Associate	34380534
Infections	Inhibit	26761025
Infections	Stimulate	31849956
Infections	Associate	36038649
Infertility	Associate	26198800, 36592993
Infertility	Stimulate	36592993
Infertility Male	Associate	24658925, 36592993
Inflammation	Associate	17997855, 29671417, 32049633, 32221364, 32321531, 33761622, 33809456, 34354158, 35205334, 36012132, 37027984, 38245621, 39287687
Inflammation	Inhibit	20876216, 26924871
Inflammatory Bowel Diseases	Inhibit	33028732
Inflammatory Breast Neoplasms	Associate	21559822, 24334253
Influenza Human	Associate	26761025
Intellectual Disability	Associate	7611297
Iron Deficiencies	Associate	19657548
Iron Overload	Associate	34022567
Keratoconus	Associate	19011015, 21976959, 22171159
Kidney Diseases	Associate	17914031
Kidney Failure Chronic	Associate	20360867
Kuskokwim disease	Associate	7611297
Laryngeal Neoplasms	Associate	26682008
Leiomyoma	Inhibit	23812845
Leprosy Tuberculoid	Associate	36077049
Leukemia	Associate	2737285
Leukemia Myeloid	Associate	26241492
Leukemia Myeloid Acute	Associate	36708053
Leukoencephalopathies	Associate	36430258
Liposarcoma	Associate	23114103
Liver Neoplasms	Associate	11181815, 12753090, 15312178, 16020530, 17255946, 17548825, 19325915, 20097285, 20189984, 20953194, 21104697, 21364087, 21607722, 21930926, 22027401 View all (36 more)
Loeys Dietz Syndrome	Associate	32273946
Lung Neoplasms	Inhibit	17409931, 21930909, 35898682
Lung Neoplasms	Associate	19887610, 26134408, 28558143, 30991224
Lymphoma	Associate	25082878
Macular Degeneration	Associate	23459973, 27935234
Malnutrition	Associate	29974756
Mammary Neoplasms Animal	Associate	18258688
Meningomyelocele	Associate	22972774, 23792044
Menkes Kinky Hair Syndrome	Associate	33562744, 8910456
Mental Disorders	Associate	35985819
Migraine Disorders	Associate	36430258
Mitochondrial Diseases	Associate	21354101, 28441753, 32381627, 32917270, 9315720
Mitochondrial Diseases	Inhibit	26761025
Motor Neuron Disease	Associate	10467139, 12122184, 17997855, 19176896, 20075587, 22272128, 24032979, 25316790, 29679384, 31332433, 32139772, 33825682, 34680939, 40424855
Movement Disorders	Associate	35985819
Multiple Myeloma	Associate	25485927, 38554386
Multiple Sclerosis	Inhibit	30063300
Multiple Sclerosis Relapsing Remitting	Stimulate	33354282
Muscle Hypertonia	Associate	7611297
Muscle Rigidity	Associate	35985819
Muscle Weakness	Associate	12122184, 20075587, 23853506, 35594156, 9876871
Muscular Atrophy	Associate	21554318
Muscular Atrophy Spinal	Associate	23155438
Muscular Dystrophy Facioscapulohumeral	Associate	22796148
Myocardial Infarction	Associate	31731058
Myocardial Stunning	Associate	34956421
Myoclonic Epilepsies Progressive	Associate	26552558
Myotonic Dystrophy	Associate	25149881, 32767328
Nasopharyngeal Carcinoma	Associate	29582644
Necrosis	Associate	11413228, 26241492
Neointima	Associate	36416085
Neoplasm Metastasis	Associate	31847905
Neoplasms	Associate	12871978, 16551617, 22216199, 22299584, 23456297, 23632049, 24002644, 25485927, 25908445, 26318585, 26599430, 28440485, 30911355, 30991224, 32942548 View all (7 more)
Neoplasms	Inhibit	25792811, 29596499, 30570876
Neoplasms	Stimulate	35001007
Neoplastic Syndromes Hereditary	Associate	39490682
Nerve Degeneration	Associate	12067230, 12393885, 17394531, 18515363, 19091752, 19259395, 19335999, 19651777, 20097285, 21360076, 21515558, 22272128, 24032979, 24143259, 24704493 View all (5 more)
Nervous System Diseases	Inhibit	22718504
Nervous System Diseases	Associate	25025039
Neural Tube Defects	Associate	23792044
Neuroblastoma	Associate	11701756, 12067230, 12437573, 12753090, 14513838, 17997855, 18239850
Neurodegenerative Diseases	Associate	11518706, 12482932, 12649272, 17548825, 20184893, 21228060, 23431167, 24143259, 26619801, 27282955, 27496206, 28185644, 28366453, 29859640, 30367664 View all (9 more)
Neuroinflammatory Diseases	Associate	32762033
Neurologic Manifestations	Associate	33562744
Neurotoxicity Syndromes	Associate	12145308, 16798882, 17997855, 19091752, 26362407, 26919046, 30863976, 31323035
Nose Diseases	Associate	25584923
Obesity	Associate	32709094, 33761612
Obesity	Stimulate	37858747
Optic Atrophy Hereditary Leber	Inhibit	15720387
Osteoglophonic dwarfism	Inhibit	35451420
Ovarian Neoplasms	Associate	20117967, 25908445, 38166541
Overweight	Associate	22421922
Overweight	Stimulate	37858747
Pancreatitis	Associate	35205334
Papillomavirus Infections	Stimulate	34547493
Paralysis Hyperkalemic Periodic	Associate	39509425
Paresis	Associate	9876871
Parkinson Disease	Associate	21437559, 24567322, 31601079, 31744522, 34348022, 7608718
Pendred syndrome	Associate	25296320
Periodontitis	Associate	37390459
Pneumocystis Infections	Associate	19719744
Pneumocystis Infections	Inhibit	33128253
Pneumonia Lipid	Associate	32559230
Pneumonia Pneumocystis	Associate	31284044
Polycystic Ovary Syndrome	Associate	24526356
Polycystic Ovary Syndrome	Inhibit	36593322
Porphyria Acute Intermittent	Stimulate	27788171
Pre Eclampsia	Associate	26817695, 33725925
Precancerous Conditions	Associate	20872977
Prostate Cancer Hereditary 7	Associate	20477822
Prostatic Neoplasms	Associate	24038157, 26599430, 27197287, 35508713, 37257224
Proteostasis Deficiencies	Associate	20399791, 32616036
Pulmonary Arterial Hypertension	Associate	28272301
Pulmonary Disease Chronic Obstructive	Associate	18945604, 21309732, 35441963
Pulmonary Disease Chronic Obstructive	Inhibit	29872287
Quadriplegia	Associate	34380534
Radiation Injuries	Associate	9826556
Renal cell carcinoma 1	Associate	39490682
Reproductive Tract Infections	Inhibit	26198800
Respiratory Distress Syndrome	Associate	34984927
Respiratory Insufficiency	Associate	34380534, 34616013
Retinal Diseases	Associate	37811624
Ring Chromosome 20 Syndrome	Inhibit	35451420
Sarcoma	Inhibit	21871117
Sarcoma	Associate	23114103
Scleroderma Systemic	Associate	28639412
Seizures	Associate	20226689
Sensation Disorders	Associate	34616013
Severe Acute Respiratory Syndrome	Associate	29901122
Silicosis	Stimulate	24084352
Sleep Apnea Obstructive	Associate	28514291
Sleep Apnea Obstructive	Inhibit	30159112
Sleep Deprivation	Associate	24364470, 36563187
Smoke Inhalation Injury	Associate	28558143
Soft Tissue Injuries	Stimulate	10816520
Soft Tissue Injuries	Associate	34779380
Spinal Cord Diseases	Associate	21940617
Spinal Diseases	Associate	23853506
Squamous Cell Carcinoma of Head and Neck	Associate	29802697, 34785721
Status Asthmaticus	Inhibit	17301930
Stevens Johnson Syndrome	Stimulate	16879248
Stomach Diseases	Associate	12679944, 30574618, 32767328
Stomach Neoplasms	Associate	14503839, 20872977
Stomatitis	Inhibit	35563254
Supranuclear Palsy Progressive	Associate	31744522
Taste Disorders	Associate	19651777
Tertiary Lymphoid Structures	Associate	32767328
Thrombosis	Inhibit	12130503
Tooth Loss	Associate	31332433
Tuberculosis Meningeal	Associate	29901122
Urticaria	Stimulate	16879248
Uterine Cervical Neoplasms	Inhibit	22320976
Vascular Diseases	Associate	24316428
Vascular System Injuries	Associate	39490682
Vitamin D Hydroxylation Deficient Rickets Type 1A	Stimulate	3805316
Vitiligo	Associate	38567607, 39337683
Wasting Syndrome	Associate	9876871
Weill Marchesani Syndrome	Associate	15223607
Werner Syndrome	Associate	24799429
Wolfram Like Syndrome Autosomal Dominant	Associate	30909159
X Inactivation Familial Skewed 1	Associate	39490682
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Associate	24076220, 25306968

SOD1 (superoxide dismutase 1)