Human Gene SDHC (ENST00000367975.7_5) from GENCODE V47lift37
Description: 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). (from UniProt Q99643) Gencode Transcript: ENST00000367975.7_5 Gencode Gene: ENSG00000143252.17_8 Transcript (Including UTRs) Position: hg19 chr1:161,284,171-161,332,996 Size: 48,826 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr1:161,284,196-161,332,223 Size: 48,028 Coding Exon Count: 6
ID:C560_HUMAN DESCRIPTION: RecName: Full=Succinate dehydrogenase cytochrome b560 subunit, mitochondrial; AltName: Full=Integral membrane protein CII-3; AltName: Full=QPs-1; Short=QPs1; AltName: Full=Succinate dehydrogenase complex subunit C; AltName: Full=Succinate-ubiquinone oxidoreductase cytochrome B large subunit; Short=CYBL; 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). COFACTOR: Heme group. The heme is bound between the two transmembrane subunits SDHC and SDHD (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 SDHC are the cause of paragangliomas type 3 (PGL3) [MIM:605373]. A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas are most commonly located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. DISEASE: Defects in SDHC are a cause of paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]; also known as 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. SIMILARITY: Belongs to the cytochrome b560 family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SDHCID389.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SDHC"; WEB RESOURCE: Name=Wikipedia; Note=SDHC entry; URL="http://en.wikipedia.org/wiki/SDHC_%28gene%29"; WEB RESOURCE: Name=TCA Cycle Gene Mutation Database; URL="http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHC";
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.
ModBase Predicted Comparative 3D Structure on Q99643
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000104 succinate dehydrogenase activity GO:0009055 electron carrier activity GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors GO:0020037 heme binding GO:0046872 metal ion binding
Biological Process: GO:0006099 tricarboxylic acid cycle GO:0006121 mitochondrial electron transport, succinate to ubiquinone GO:0009060 aerobic respiration GO:0055114 oxidation-reduction process
Cellular Component: GO:0005739 mitochondrion GO:0005743 mitochondrial inner membrane GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0016020 membrane GO:0016021 integral component of membrane GO:0045273 respiratory chain complex II GO:0045281 succinate dehydrogenase complex
Descriptions from all associated GenBank mRNAs
AK293687 - Homo sapiens cDNA FLJ57874 complete cds, highly similar to Homo sapiens succinate dehydrogenase complex, subunit C, transcript variant 3, mRNA. AK294305 - Homo sapiens cDNA FLJ57876 complete cds, highly similar to Homo sapiens succinate dehydrogenase complex, subunit C, transcript variant 2, mRNA. BC066329 - Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa, mRNA (cDNA clone MGC:87302 IMAGE:5301907), complete cds. U57877 - Human integral membrane protein CII-3 mRNA, nuclear gene encoding mitochondrial protein, complete cds. BC020808 - Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa, mRNA (cDNA clone MGC:23841 IMAGE:4291847), complete cds. AK131051 - Homo sapiens cDNA FLJ29017 fis, clone MPG02365, highly similar to Succinate dehydrogenase cytochrome B560 subunit, mitochondrial precursor. AB211234 - Homo sapiens SDHC mRNA for succinate dehydrogenase complex, subunit C delta3 alternative splicing variant, complete cds. AB211235 - Homo sapiens SDHC mRNA for succinate dehydrogenase complex, subunit C delta5 alternative splicing variant, complete cds. AB201252 - Homo sapiens SDHC RNA for succinate dehydrogenase complex, subunit C elta2+3 alternative splicing variant, complete cds. AB212048 - Homo sapiens SDHC mRNA for succinate dehydrogenase complex, subunit C delta3+5 alternative splicing variant, complete cds. JD056308 - Sequence 37332 from Patent EP1572962. BC012735 - Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa, mRNA (cDNA clone IMAGE:3622538), containing frame-shift errors. BC033626 - Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa, mRNA (cDNA clone MGC:40282 IMAGE:5416956), complete cds. D49737 - Homo sapiens mRNA for cytochrome b large subunit of complex II, complete cds. KU178321 - Homo sapiens succinate dehydrogenase complex subunit C integral membrane protein 15kDa isoform 1 (SDHC) mRNA, partial cds. KU178322 - Homo sapiens succinate dehydrogenase complex subunit C integral membrane protein 15kDa isoform 2 (SDHC) mRNA, partial cds. KU178323 - Homo sapiens succinate dehydrogenase complex subunit C integral membrane protein 15kDa isoform 3 (SDHC) mRNA, partial cds. KU178324 - Homo sapiens succinate dehydrogenase complex subunit C integral membrane protein 15kDa isoform 4 (SDHC) mRNA, partial cds, alternatively spliced. KJ892120 - Synthetic construct Homo sapiens clone ccsbBroadEn_01514 SDHC gene, encodes complete protein. KR710831 - Synthetic construct Homo sapiens clone CCSBHm_00017559 SDHC (SDHC) mRNA, encodes complete protein. KR710832 - Synthetic construct Homo sapiens clone CCSBHm_00017563 SDHC (SDHC) mRNA, encodes complete protein. KR710833 - Synthetic construct Homo sapiens clone CCSBHm_00017565 SDHC (SDHC) mRNA, encodes complete protein. KR710834 - Synthetic construct Homo sapiens clone CCSBHm_00017568 SDHC (SDHC) mRNA, encodes complete protein. CR457102 - Homo sapiens full open reading frame cDNA clone RZPDo834F067D for gene SDHC, succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa; complete cds, incl. stopcodon. JD357544 - Sequence 338568 from Patent EP1572962. JD513683 - Sequence 494707 from Patent EP1572962. JD551156 - Sequence 532180 from Patent EP1572962. JD236196 - Sequence 217220 from Patent EP1572962. JD295835 - Sequence 276859 from Patent EP1572962. JD525185 - Sequence 506209 from Patent EP1572962. JD149303 - Sequence 130327 from Patent EP1572962. JD429851 - Sequence 410875 from Patent EP1572962. JD433441 - Sequence 414465 from Patent EP1572962. JD045742 - Sequence 26766 from Patent EP1572962. JD476487 - Sequence 457511 from Patent EP1572962. JD167341 - Sequence 148365 from Patent EP1572962. JD039466 - Sequence 20490 from Patent EP1572962. JD221978 - Sequence 203002 from Patent EP1572962. JD042634 - Sequence 23658 from Patent EP1572962. JD218903 - Sequence 199927 from Patent EP1572962. JD172187 - Sequence 153211 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCyc Knowledge Library PWY-3781 - aerobic respiration I (cytochrome c) PWY66-398 - TCA cycle PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle
BioCarta from NCI Cancer Genome Anatomy Project h_etcPathway - Electron Transport Reaction in Mitochondria
Reactome (by CSHL, EBI, and GO)
Protein Q99643 (Reactome details) participates in the following event(s):
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
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
