Human Gene SDHD (ENST00000528048.5) Description and Page Index
Description: Homo sapiens succinate dehydrogenase complex subunit D (SDHD), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001276503) RefSeq Summary (NM_001276503): This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]. Gencode Transcript: ENST00000528048.5 Gencode Gene: ENSG00000204370.13 Transcript (Including UTRs) Position: hg38 chr11:112,086,873-112,095,505 Size: 8,633 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr11:112,086,908-112,094,893 Size: 7,986 Coding Exon Count: 3
ID:DHSD_HUMAN DESCRIPTION: RecName: Full=Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial; Short=CybS; AltName: Full=CII-4; AltName: Full=QPs3; AltName: Full=Succinate dehydrogenase complex subunit D; AltName: Full=Succinate-ubiquinone oxidoreductase cytochrome b small subunit; AltName: Full=Succinate-ubiquinone reductase membrane anchor subunit; Flags: Precursor; FUNCTION: Membrane-anchoring 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) (By similarity). PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle. SUBUNIT: Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. DISEASE: Defects in SDHD are a cause of paragangliomas type 1 (PGL1) [MIM:168000]. A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors. DISEASE: Defects in SDHD are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. DISEASE: Defects in SDHD may be a cause of susceptibility to intestinal carcinoid tumor (ICT) [MIM:114900]. A yellow, well- differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract. DISEASE: Defects in SDHD are a cause of paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]; also called Carney-Stratakis syndrome. Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. DISEASE: Defects in SDHD are a cause of Cowden-like syndrome (CWDLS) [MIM:612359]. Cowden-like syndrome is a cancer predisposition syndrome associated with elevated risk for tumors of the breast, thyroid, kidney and uterus. SIMILARITY: Belongs to the CybS family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SDHDID390.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SDHD"; WEB RESOURCE: Name=Wikipedia; Note=SDHD entry; URL="http://en.wikipedia.org/wiki/SDHD"; WEB RESOURCE: Name=TCA Cycle Gene Mutation Database; URL="http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHD";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF05328 - CybS, succinate dehydrogenase cytochrome B small subunit
ModBase Predicted Comparative 3D Structure on O14521
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
R-HSA-163213 Transfer of electrons through the succinate dehydrogenase complex R-HSA-70994 Succinate <=> Fumarate (with FAD redox reaction on enzyme) R-HSA-611105 Respiratory electron transport R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. R-HSA-71403 Citric acid cycle (TCA cycle) R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle R-HSA-1430728 Metabolism