SOD1: Polycystic Ovarian Syndrome Database

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SOD1

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

SOD1

Aliases

ALS, ALS1, HEL-S-44, IPOA, SOD, STAHP, hSod1, homodimer

Entrez Gene ID

6647

Gene Name

Superoxide dismutase 1

Chromosomal Location

21q22.11

HGNC ID

HGNC:11179

Summary

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-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_008689.1

RefSeq mRNA

NM_000454.5, NM_000454.4

e!Ensembl

Gene	ENSG00000142168
Transcript	ENST00000270142, ENST00000389995
Protein	ENSP00000270142, ENSP00000374645

Gene Ontology (GO)

Show/Hide all(53 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000303	Biological process	Response to superoxide	IDA	16790527
GO:0001819	Biological process	Positive regulation of cytokine production	IDA	15544046
GO:0001890	Biological process	Placenta development	NAS	12485882
GO:0006801	Biological process	Superoxide metabolic process	IDA	12551919
GO:0007566	Biological process	Embryo implantation	NAS	10920331
GO:0007569	Biological process	Cell aging	IMP	12871978
GO:0008089	Biological process	Anterograde axonal transport	ISS	20510358
GO:0008090	Biological process	Retrograde axonal transport	ISS	20510358
GO:0010033	Biological process	Response to organic substance	IDA	12921788
GO:0019430	Biological process	Removal of superoxide radicals	IBA	21873635
GO:0019430	Biological process	Removal of superoxide radicals	IC	24567322
GO:0032930	Biological process	Positive regulation of superoxide anion generation	IDA	18219391
GO:0033081	Biological process	Regulation of T cell differentiation in thymus	NAS	16716898
GO:0043065	Biological process	Positive regulation of apoptotic process	IC	16790527
GO:0043085	Biological process	Positive regulation of catalytic activity	IDA	17324120
GO:0043087	Biological process	Regulation of GTPase activity	IDA	18219391
GO:0045541	Biological process	Negative regulation of cholesterol biosynthetic process	IDA	15473258
GO:0045859	Biological process	Regulation of protein kinase activity	IDA	16254550
GO:0046620	Biological process	Regulation of organ growth	NAS	16716898
GO:0048538	Biological process	Thymus development	NAS	16716898
GO:0050665	Biological process	Hydrogen peroxide biosynthetic process	IDA	15544046
GO:0051881	Biological process	Regulation of mitochondrial membrane potential	IMP	16790527
GO:0060047	Biological process	Heart contraction	IDA	9539776
GO:0072593	Biological process	Reactive oxygen species metabolic process	IDA	24140062
GO:1902177	Biological process	Positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IMP	12551919
GO:0005615	Cellular component	Extracellular space	IDA	7172448, 9453566
GO:0005634	Cellular component	Nucleus	HDA	21630459
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	1332049, 9726962, 17504823, 22496122, 24023695
GO:0005737	Cellular component	Cytoplasm	IDA	1332049, 9726962, 11527942, 17077646, 17504823, 18809582, 19741096, 24023695, 24784232
GO:0005739	Cellular component	Mitochondrion	IBA	21873635
GO:0005739	Cellular component	Mitochondrion	IDA	16790527, 19741096
GO:0005759	Cellular component	Mitochondrial matrix	NAS	17008312
GO:0005777	Cellular component	Peroxisome	IDA	1332049
GO:0005829	Cellular component	Cytosol	IBA	21873635
GO:0005829	Cellular component	Cytosol	IDA	16790527
GO:0005886	Cellular component	Plasma membrane	IDA	17077646, 17324120
GO:0031410	Cellular component	Cytoplasmic vesicle	IDA	17077646
GO:0032839	Cellular component	Dendrite cytoplasm	IDA	17324120
GO:0032991	Cellular component	Protein-containing complex	IDA	17324120
GO:0043025	Cellular component	Neuronal cell body	IDA	17324120
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 23533145
GO:0004784	Molecular function	Superoxide dismutase activity	IBA	21873635
GO:0004784	Molecular function	Superoxide dismutase activity	IDA	12551919, 15544046, 17324120, 24140062, 24567322
GO:0005507	Molecular function	Copper ion binding	IBA	21873635
GO:0005507	Molecular function	Copper ion binding	IDA	17008312
GO:0005515	Molecular function	Protein binding	IPI	16369483, 16595634, 16790527, 19171884, 20195357, 21252941, 24023695, 29128334
GO:0008270	Molecular function	Zinc ion binding	IDA	17381088
GO:0030346	Molecular function	Protein phosphatase 2B binding	IDA	17324120
GO:0042802	Molecular function	Identical protein binding	IPI	17592131, 19022905, 19171884, 19369197, 19828437, 21257910, 23831581
GO:0042803	Molecular function	Protein homodimerization activity	NAS	9726962, 10837872
GO:0048365	Molecular function	Rac GTPase binding	IDA	18219391
GO:0051087	Molecular function	Chaperone binding	IPI	9726962

Protein Information

Protein Name

Superoxide dismutase [Cu-Zn], Cu/Zn superoxide dismutase, SOD, soluble, epididymis secretory protein Li 44, indophenoloxidase A, superoxide dismutase 1, soluble, superoxide dismutase, cystolic

Function

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

Refseq Proteins

NP_000445.1

UniProt

P00441

PDB

6FOL, 6FON, 6FP6, 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,

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

Interactions

STRING	MINT	IntAct
ENSP00000441691	P11215	P11215

View interactions

Associated Diseases

Show/Hide all(14 )

Disease group	Disease Name	References
Blood Disorders
Blood Disorders	Anemia	17057260
Cardiovascular Diseases
	Heart Failure	20304815
	Hypertensive disease	9024144, 25101153
	Atherosclerosis	20720404
	Myocardial Failure	20304815
	Myocardial Infarction	21600015
	Aortic Diseases	25101153
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Down Syndrome	11181815
	Marfan Syndrome	25101153
	Asphyxia Neonatorum	17963755
	Turner Syndrome	25101153
Digestive System Diseases
	Liver Diseases	20623750, 27349771, 17877538
	Fatty Liver	27349771
	Chronic hepatitis	25053573
	Hepatitis	27349771, 20623750
	Alcoholic fatty liver	19951287
Endocrine System Diseases
	Hyperthyroidism	19914224
	Diabetes Mellitus	15531508, 23786522
	PCOS	19308750
Eye Diseases
Eye Diseases	Diabetic Retinopathy	19074809
Musculoskeletal Diseases
Musculoskeletal Diseases	Kearns-Sayre syndrome	11907800
Neoplasms
	Glioma	11861405
	Ovarian Cancer	16179351
Nervous System Diseases
	Lateral Sclerosis	11796754, 10764647, 24163136, 11181815, 19227972, 11675877, 11951178, 26694608, 8967745, 21140194, 15264227, 16105836, 15096637, 20485746, 24256636, 11346368, 23612299, 15522870, 12127151, 7655471, 8682505, 8938700, 8907321, 10430435, 7881433, 7501156, 7647793, 7836951, 14506936, 806, 9131652, 12963370, 12402272, 12754496, 7951252, 9101297, 9541385, 11369193, 18378676, 10400992, 18552350, 8179602, 7655468, 8069312, 7980516, 7700376, 8446170, 18301754, 8528216, 7795609, 7655469, 11535232, 9455977, 7870076, 2124, 11590119, 12586733, 17097207, 21867702, 23583883, 9065559, 11723166, 19929749, 25164820, 20177826, 20515040, 24885036, 20348957, 17319283, 17496168, 20132483, 19635794, 11220737, 18233996, 10025816, 10930589, 16495328, 7887412, 12626432, 7496169, 8351519, 21220647, 8990014, 21247266, 27604643, 15056757, 75, 16702190
	Transient Ischemic Attack	16538228, 15829915, 16868554, 12629175
	Motor Neuron Disease	16702190, 28089114
	Stroke	10698074
	Spina Bifida	22972774
	Parkinson Disease	15824117, 21318773, 16353238
	Brain Ischemia	16868554, 15829915, 12629175, 16538228
	Cerebral Ischemia	12629175, 15829915, 16868554, 16538228, 11756504
	Gait Disorders	21867702
	MELAS Syndrome	11907800
	Anterior Horn Cell Disease	16702190
Nutritional and Metabolic Diseases
	Obesity	24042701
	Protein Deficiency	16214328
	Deficiency Diseases	12514262
Psychiatric/Brain disorders
	Mental Depression	22244747, 10594078, 19605942
	Schizophrenia	22001364
	Melancholia	19605942
	Bipolar Disorder	22001364
	Obstructive Sleep Apnea	30159112, 17511582, 20656942
Renal Disorder
	Kidney Failure	28885000
	Nephrosis	2273594
	Kidney Calculi	24360074
	Kidney Insufficiency	28885000
	Ureteral Calculi	24360074
Respiratory Tract Diseases
	Asthma	22867017
	Pulmonary Fibrosis	26699812
Skin and Connective Tissue Diseases
Skin and Connective Tissue Diseases	Dermatitis	25724174

References

Show/Hide all(2)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
19308750	MDA	Oxidative stress and endothelial dysfunction			Related	Turkey- 31 young, non-obese patients with PCOS and 23 controls	Oxidative stress is prominent while endothelial dysfunction does not exist in young, non-obese patients with PCOS.
11522279	MDA,GSH,Glutathione peroxidase (GSH-Px)	Cardiovascular disease			Related		These findings suggest that increased oxidative stress may contribute to the increased risk of cardiovascular disease in women with PCOS.