Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A) is a Protein Coding gene. Diseases associated with SDHA include Mitochondrial Complex Ii Deficiency and Cardiomyopathy, Dilated, 1Gg. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Citrate cycle (TCA cycle). Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is ENSG00000286001.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000104 | contributes_to succinate dehydrogenase activity | IMP | 7550341 |
GO:0005515 | protein binding | IPI | 15961414 |
GO:0008177 | succinate dehydrogenase (ubiquinone) activity | IBA,IMP | 24781757 |
GO:0009055 | electron transfer activity | IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005730 | nucleolus | IDA | -- |
GO:0005739 | mitochondrion | IDA | 7550341 |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0005749 | mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) | TAS | 7550341 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
2 | Citrate cycle (TCA cycle) |
.01
|
|
3 | Parkinson disease | ||
4 | Pyruvate metabolism and Citric Acid (TCA) cycle |
.01
|
|
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006099 | tricarboxylic acid cycle | TAS | 7550341 |
GO:0006105 | succinate metabolic process | IDA | 7550341 |
GO:0006121 | mitochondrial electron transport, succinate to ubiquinone | IBA | 21873635 |
GO:0007399 | nervous system development | IMP | 16361598 |
GO:0022900 | electron transport chain | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Coenzyme Q10 | Approved, Investigational | Nutra | Target, cofactor | 182 | ||
Succinic acid | Approved | Nutra | Agonist, Full agonist, Enzyme, substrate | 0 | ||
Carboxin | Approved, Experimental | Pharma | Target | 0 | ||
FAD | Approved | Pharma | 0 | |||
Iron | Approved, Experimental | Pharma | 1560 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
QH(2) |
|
|
||||
QH2 |
|
56275-39-9 |
|
|||
Sulfide |
|
18496-25-8 |
|
|||
Ubiquinol 8 |
|
74075-00-6 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SDHA 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SDHA 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SDHA 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SDHA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sdha 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sdha 30 |
|
||
Cow (Bos Taurus) |
Mammalia | SDHA 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SDHA 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SDHA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sdha 30 |
|
||
Str.9006 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68518 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sdha 30 31 |
|
OneToOne | |
zgc56051 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.337 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Scs-fp 32 |
|
|
|
SdhA 30 31 |
|
OneToOne | |||
CG5718 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010429 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | C03G5.1 32 |
|
|
|
C34B2.7 32 |
|
|
|||
sdha-1 30 |
|
||||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
OneToOne | |
SDH1 30 33 |
|
||||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACR052W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D04444g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SDH1-1 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10042 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0134800 30 |
|
||
Os.22581 30 |
|
||||
Wheat (Triticum aestivum) |
Liliopsida | Ta.3416 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.16820 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08336 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | sdh1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2710 30 |
|
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
412369 | Uncertain Significance: Mitochondrial complex II deficiency; Paragangliomas 5 | 233,577(+) | TG/CA | MISSENSE_VARIANT | |
545722 | Pathogenic: Paragangliomas 5 | 233,472(+) | TGCAGGCATATATGGT | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
568815 | Uncertain Significance: Mitochondrial complex II deficiency; Paragangliomas 5 | 251,426(+) | AC/GT | MISSENSE_VARIANT,INTRON_VARIANT | |
572860 | Uncertain Significance: Mitochondrial complex II deficiency; Paragangliomas 5 | 233,618(+) | CC/GG | MISSENSE_VARIANT | |
639589 | Pathogenic: Mitochondrial complex II deficiency; Paragangliomas 5 | 235,337(+) | C/T | NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
mitochondrial complex ii deficiency |
|
|
cardiomyopathy, dilated, 1gg |
|
|
paragangliomas 5 |
|
|
leigh syndrome |
|
|
hereditary paraganglioma-pheochromocytoma syndromes |
|
|