Entity Details

Primary name SDHA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP31040
EntryNameSDHA_HUMAN
FullNameSuccinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length664
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesSDHA

GO terms

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GOName
GO:0005730 nucleolus
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)
GO:0006099 tricarboxylic acid cycle
GO:0006105 succinate metabolic process
GO:0006121 mitochondrial electron transport, succinate to ubiquinone
GO:0007399 nervous system development
GO:0008177 succinate dehydrogenase (ubiquinone) activity
GO:0009055 electron transfer activity
GO:0022904 respiratory electron transport chain
GO:0050660 flavin adenine dinucleotide binding

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR003952 Fumarate reductase/succinate dehydrogenase, FAD-binding siteSiteBinding site
IPR003953 FAD-dependent oxidoreductase 2, FAD binding domainDomainDomain
IPR011281 Succinate dehydrogenase, flavoprotein subunitFamilyFamily
IPR014006 Succinate dehydrogenase/fumarate reductase, flavoprotein subunitFamilyFamily
IPR015939 Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminalDomainDomain
IPR027477 Succinate dehydrogenase/fumarate reductase flavoprotein, catalytic domain superfamilyFamilyHomologous superfamily
IPR036188 FAD/NAD(P)-binding domain superfamilyFamilyHomologous superfamily
IPR037099 Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613642 OMIMCardiomyopathy, dilated 1GG (CMD1GG)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.
252011 OMIMMitochondrial complex II deficiency, nuclear type 1 (MC2DN1)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. The disease is caused by variants affecting the gene represented in this entry.
256000 OMIMLeigh syndrome (LS)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. The disease is caused by variants affecting the gene represented in this entry.
614165 OMIMParagangliomas 5 (PGL5)A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00139 Succinic acidDrugbanksmall molecule
DB04141 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-TriolDrugbanksmall molecule
DB04657 CarboxinDrugbanksmall molecule
DB04795 ThenoyltrifluoroacetoneDrugbanksmall molecule
DB08689 Ubiquinone Q1Drugbanksmall molecule
DB09270 UbidecarenoneDrugbanksmall molecule