SDHA
entrez
6389
canonical
uniprot
P31040
canonical
ensembl
ENSG00000073578
resolver
ensp
ENSP00000264932
resolver
ensp
ENSP00000426514
resolver
ensp
ENSP00000427703
resolver
enst
ENST00000504309
resolver
genesymbol
SDHA
resolver
genesymbol_syn
SDH2
resolver
genesymbol_syn
SDHF
resolver
hgnc
HGNC:10680
resolver
uniprot
A8K5J6
resolver
uniprot
B4DJ60
resolver
uniprot
D6RFM5
resolver
uniprot
E9PBJ5
resolver
uniprot
Q16395
resolver
uniprot
Q59GW8
resolver
uniprot
Q8IW48
resolver
uniprot
Q9UMY5
resolver
uniprot_entry
D6RFM5_HUMAN
resolver
uniprot_entry
SDHA_HUMAN
resolver
uniprot_sec
A8K5J6
resolver
uniprot_sec
B4DJ60
resolver
uniprot_sec
E9PBJ5
resolver
uniprot_sec
Q16395
resolver
uniprot_sec
Q59GW8
resolver
uniprot_sec
Q8IW48
resolver
uniprot_sec
Q9UMY5
resolver
activity_regulation
ACTIVITY REGULATION: Enol-oxaloacetate inhibits the succinate dehydrogenase activity. {ECO:0000250|UniProtKB:P31039}.
uniprot
proteins
amino_acid_sequence
MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDHEFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWRWHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKFGKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIEDGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGIYGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQVLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDKVPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKISKLYGDLKHLKTFDRGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRIDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEYRPVIDKTLNEADCATVPPAIRSY
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex II deficiency, nuclear type 1 (MC2DN1) [MIM:252011]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN1 inheritance is autosomal recessive. {ECO:0000269|PubMed:12794685, ECO:0000269|PubMed:22972948, ECO:0000269|PubMed:26642834}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:10746566, ECO:0000269|PubMed:24781757, ECO:0000269|PubMed:7550341}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1GG (CMD1GG) [MIM:613642]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:20551992}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pheochromocytoma/paraganglioma syndrome 5 (PPGL5) [MIM:614165]: A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL5 inheritance is autosomal dominant. {ECO:0000269|PubMed:20484225}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA) [MIM:619259]: An autosomal dominant disorder characterized by slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment. Disease onset is usually in mid-adulthood. {ECO:0000269|PubMed:10976639, ECO:0000269|PubMed:27683074}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.5.-
uniprot
proteins
ec_number
1.3.5.1
uniprot
proteins
function
FUNCTION: Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:10746566, PubMed:24781757). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity). Can act as a tumor suppressor (PubMed:20484225). {ECO:0000250|UniProtKB:P31039, ECO:0000269|PubMed:10746566, ECO:0000269|PubMed:20484225, ECO:0000269|PubMed:24781757}.
uniprot
proteins
mass_dalton
72692
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1. {ECO:0000305|PubMed:24781757}.
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Tyr-215 is important for efficient electron transfer in complex II and the prevention of ROS generation. {ECO:0000269|PubMed:22823520}.; PTM: Acetylated. Deacetylated by SIRT3. {ECO:0000250|UniProtKB:Q8K2B3}.
uniprot
proteins
protein_family
FAD-dependent oxidoreductase 2 family
uniprot
proteins
protein_family
FRD/SDH subfamily
uniprot
proteins
pubmed
10746566
uniprot
proteins
pubmed
10976639
uniprot
proteins
pubmed
12794685
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15242332
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19628817
uniprot
proteins
pubmed
20484225
uniprot
proteins
pubmed
20551992
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22823520
uniprot
proteins
pubmed
22972948
uniprot
proteins
pubmed
23747254
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24781757
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26642834
uniprot
proteins
pubmed
27683074
uniprot
proteins
pubmed
28593945
uniprot
proteins
pubmed
32887801
uniprot
proteins
pubmed
37098072
uniprot
proteins
pubmed
7550341
uniprot
proteins
pubmed
7798181
uniprot
proteins
pubmed
8142412
uniprot
proteins
sequence_length
664
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:37098072}; Peripheral membrane protein {ECO:0000269|PubMed:37098072}; Matrix side {ECO:0000269|PubMed:37098072}.
uniprot
proteins