SDHA
SDHA Gene Summary
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]
Details
| Type | Protein Coding |
| Official Symbol | SDHA |
| Official Name | succinate dehydrogenase complex flavoprotein subunit A [Source:HGNC Symbol;Acc:HGNC:10680] |
| Ensembl ID | ENSG00000073578 |
| Bio databases IDs | |
| Aliases | succinate dehydrogenase complex flavoprotein subunit A, succinate dehydrogenase [ubiquinone] flavoprotein subunit, flavoprotein subunit of complex II |
| Synonyms | 1500032O14RIK,2310034D06Rik,4921513A11,CMD1GG,Complex II Flavoprotein Subunit,Electron-transfer-flavoprotein, alpha polypeptide,Electron-transfer-flavoprotein, α polypeptide,FP,MC2DN1,NDAXOA,PGL5,PPGL5,SDH1,SDH2,SDH70,Sdha1,SDHF,succinate dehydrogenase complex flavoprotein subunit A,Succinate dehydrogenase complex, subunit A flavoprotein (Fp),succinate dehydrogenase complex, subunit A, flavoprotein (Fp),Succinate-ubiquinone oxidoreductase 70-kda subunit |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- flavocytochrome c
- FAD binding domain
- Fumarate reductase flavoprotein C-term
- low-GC Gram-positive bacterial succinate dehydrogenase/fumarate reductase flavoprotein subunit
- succinate dehydrogenase, flavoprotein subunit, E
- enzyme
- protein binding
- Gram-negative bacterial/mitochondrial succinate dehydrogenase/fumarate reductase flavoprotein subunit
- succinate dehydrogenase (ubiquinone)
- succinate dehydrogenase
- L-aspartate oxidase
Pathways
Biological processes and signaling networks where the SDHA gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- CDC42
- FLOT1
- SDHAF3
- CCDC90B
- ESR2
- CCT7
- ATP6V0D1
- WDR5
- DLG4
- PIH1D1
disease
- liver cancer
- cancer
- epithelial cancer
- hepatocellular carcinoma
- paraganglioma type 1
- hereditary cancer-predisposing syndrome
- neurodegeneration with ataxia and late-onset optic atrophy
- gastrointestinal stromal neoplasia
- SDHA-related disorder
- hereditary paraganglioma-pheochromocytoma syndrome
regulated by
- edaravone
- isobutylmethylxanthine
- insulin
- dexamethasone
- N-[2,2,2-trichloro-1-(2-naphthylamino)ethyl]-2-furamide
- lipopolysaccharide
- WNT3A
- rosiglitazone
- TP53
- CACNA1C
regulates
- HIF1A
- SLC2A1
- reactive oxygen species
- Ca2+
- adenosine triphosphate
- HMOX1
- succinate dehydrogenase
- IgG3
- BTK
- IgM
role in cell
- expression in
- cell death
- proliferation
- killing
- production in
- phosphorylation in
- binding in
- mobilization in
- mitochondrial respiration
- glycolysis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cellular membrane
- Plasma Membrane
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial inner membrane
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the SDHA gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- respiratory electron transport chain
- nervous system development
- mitochondrial electron transport, succinate to ubiquinone
- tricarboxylic acid cycle
- succinate metabolic process
- mitochondrial ATP synthesis coupled proton transport
CELLULAR COMPONENT
Where in the cell the gene product is active
- respiratory chain complex II
- mitochondrion
- nucleolus
- mitochondrial inner membrane
MOLECULAR FUNCTION
What the gene product does at the molecular level
- protein binding
- succinate dehydrogenase (ubiquinone) activity
- flavin adenine dinucleotide binding
- electron carrier activity
- succinate dehydrogenase activity