UniProtKB - O14521 (DHSD_HUMAN)
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Protein
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Gene
SDHD
Organism
Homo sapiens (Human)
Status
Functioni
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
: tricarboxylic acid cycle Pathwayi
This protein is involved in the pathway tricarboxylic acid cycle, which is part of Carbohydrate metabolism.View all proteins of this organism that are known to be involved in the pathway tricarboxylic acid cycle and in Carbohydrate metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 102 | Iron (heme axial ligand); shared with SDHCBy similarity | 1 | |
Binding sitei | 114 | Ubiquinone; shared with IP/SDHBBy similarity | 1 |
GO - Molecular functioni
- electron transfer activity Source: UniProtKB
- heme binding Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- succinate dehydrogenase activity Source: UniProtKB
- ubiquinone binding Source: UniProtKB
GO - Biological processi
- mitochondrial electron transport, succinate to ubiquinone Source: GO_Central
- tricarboxylic acid cycle Source: UniProtKB
Keywordsi
Biological process | Electron transport, Transport, Tricarboxylic acid cycle |
Ligand | Heme, Iron, Metal-binding |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000150781-MONOMER. |
Reactomei | R-HSA-611105. Respiratory electron transport. R-HSA-71403. Citric acid cycle (TCA cycle). |
SIGNORi | O14521. |
UniPathwayi | UPA00223. |
Names & Taxonomyi
Protein namesi | Recommended name: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrialShort name: CybS Alternative name(s): CII-4 QPs3 Succinate dehydrogenase complex subunit D Succinate-ubiquinone oxidoreductase cytochrome b small subunit Succinate-ubiquinone reductase membrane anchor subunit |
Gene namesi | Name:SDHD Synonyms:SDH4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000204370.8. |
HGNCi | HGNC:10683. SDHD. |
MIMi | 602690. gene. |
neXtProti | NX_O14521. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 57 – 63 | Mitochondrial matrixBy similarity | 7 | |
Transmembranei | 64 – 85 | HelicalBy similarityAdd BLAST | 22 | |
Topological domaini | 86 – 90 | Mitochondrial intermembraneBy similarity | 5 | |
Transmembranei | 91 – 111 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 112 – 120 | Mitochondrial matrixBy similarity | 9 | |
Transmembranei | 121 – 142 | HelicalBy similarityAdd BLAST | 22 | |
Topological domaini | 143 – 159 | Mitochondrial intermembraneBy similarityAdd BLAST | 17 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Paragangliomas 1 (PGL1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:168000Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018519 | 93 | Missing in PGL1. 1 Publication | 1 | |
Natural variantiVAR_010040 | 102 | H → L in PGL1. 1 PublicationCorresponds to variant dbSNP:rs104894302Ensembl. | 1 | |
Natural variantiVAR_017872 | 114 | Y → C in PGL1. 2 PublicationsCorresponds to variant dbSNP:rs104894304Ensembl. | 1 | |
Natural variantiVAR_017873 | 139 | L → P in PGL1. 1 PublicationCorresponds to variant dbSNP:rs80338847Ensembl. | 1 | |
Natural variantiVAR_054385 | 148 | G → V in PGL1. 1 Publication | 1 |
Pheochromocytoma (PCC)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:171300Intestinal carcinoid tumor (ICT)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract.
See also OMIM:114900Paraganglioma and gastric stromal sarcoma (PGGSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionGastrointestinal 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.
See also OMIM:606864Cowden syndrome 3 (CWS3)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.
See also OMIM:615106Mitochondrial complex II deficiency (MT-C2D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:252011Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074105 | 69 | E → K in MT-C2D; results in impaired mitochondrial complex II assembly; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs202198133Ensembl. | 1 | |
Natural variantiVAR_074106 | 92 | D → G in MT-C2D; results in highly reduced protein expression; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs786205436Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 6392. |
GeneReviewsi | SDHD. |
MalaCardsi | SDHD. |
MIMi | 114900. phenotype. 168000. phenotype. 171300. phenotype. 252011. phenotype. 606864. phenotype. 615106. phenotype. |
OpenTargetsi | ENSG00000204370. |
Orphaneti | 100093. Carcinoid tumor and carcinoid syndrome. 97286. Carney-Stratakis syndrome. 201. Cowden syndrome. 29072. Hereditary pheochromocytoma-paraganglioma. 3208. Isolated succinate-CoQ reductase deficiency. |
PharmGKBi | PA35608. |
Chemistry databases
DrugBanki | DB00756. Hexachlorophene. DB00139. Succinic acid. DB08689. UBIQUINONE-1. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 56 | MitochondrionSequence analysisAdd BLAST | 56 | |
ChainiPRO_0000006487 | 57 – 159 | Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrialAdd BLAST | 103 |
Proteomic databases
EPDi | O14521. |
MaxQBi | O14521. |
PaxDbi | O14521. |
PeptideAtlasi | O14521. |
PRIDEi | O14521. |
TopDownProteomicsi | O14521-1. [O14521-1] |
PTM databases
SwissPalmi | O14521. |
Expressioni
Gene expression databases
Bgeei | ENSG00000204370. |
CleanExi | HS_SDHD. |
ExpressionAtlasi | O14521. baseline and differential. |
Genevisiblei | O14521. HS. |
Organism-specific databases
HPAi | HPA045727. |
Interactioni
Subunit structurei
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.
Protein-protein interaction databases
BioGridi | 112293. 11 interactors. |
IntActi | O14521. 2 interactors. |
MINTi | O14521. |
STRINGi | 9606.ENSP00000364699. |
Structurei
3D structure databases
ProteinModelPortali | O14521. |
SMRi | O14521. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the CybS family.Curated
Keywords - Domaini
Transit peptide, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4097. Eukaryota. ENOG4111RTW. LUCA. |
GeneTreei | ENSGT00390000010003. |
HOGENOMi | HOG000290645. |
HOVERGENi | HBG003003. |
InParanoidi | O14521. |
KOi | K00237. |
OMAi | PCSAVDY. |
OrthoDBi | EOG091G0RHX. |
PhylomeDBi | O14521. |
TreeFami | TF313310. |
Family and domain databases
CDDi | cd03496. SQR_TypeC_CybS. 1 hit. |
Gene3Di | 1.20.1300.10. 1 hit. |
InterProi | View protein in InterPro IPR007992. CybS. IPR034804. SQR/QFR_C/D. |
PANTHERi | PTHR13337. PTHR13337. 1 hit. |
SUPFAMi | SSF81343. SSF81343. 1 hit. |
s (4)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: O14521-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH
60 70 80 90 100
LSPSHHSGSK AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT
110 120 130 140 150
LHGHWGLGQV VTDYVHGDAL QKAAKAGLLA LSALTFAGLC YFNYHDVGIC
KAVAMLWKL
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 74 | V → F in AAH70307 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017870 | 12 | G → S Polymorphism that may increase susceptibility for developing pheochromocytoma, paraganglioma, intestinal carcinoid tumor and breast, renal and uterus carcinoma; may be associated with Cowden syndrome; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with 1.9-fold increase in both AKT and MAPK expression. 7 PublicationsCorresponds to variant dbSNP:rs34677591Ensembl. | 1 | |
Natural variantiVAR_017871 | 50 | H → R Polymorphism that may increase susceptibility for developing paraganglioma, breast and thyroid carcinoma; may be involved in somatic Merkel cell carcinoma; may be associated with Cowden syndrome; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with a 2.0-fold increase in AKT expression and a 1.7-fold increase in MAPK expression. 4 PublicationsCorresponds to variant dbSNP:rs11214077Ensembl. | 1 | |
Natural variantiVAR_074105 | 69 | E → K in MT-C2D; results in impaired mitochondrial complex II assembly; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs202198133Ensembl. | 1 | |
Natural variantiVAR_010038 | 81 | P → L in PGL1 and pheochromocytoma. 3 PublicationsCorresponds to variant dbSNP:rs80338844Ensembl. | 1 | |
Natural variantiVAR_074106 | 92 | D → G in MT-C2D; results in highly reduced protein expression; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs786205436Ensembl. | 1 | |
Natural variantiVAR_010039 | 92 | D → Y in PGL1 and pheochromocytoma. 4 PublicationsCorresponds to variant dbSNP:rs80338845Ensembl. | 1 | |
Natural variantiVAR_018519 | 93 | Missing in PGL1. 1 Publication | 1 | |
Natural variantiVAR_010040 | 102 | H → L in PGL1. 1 PublicationCorresponds to variant dbSNP:rs104894302Ensembl. | 1 | |
Natural variantiVAR_017872 | 114 | Y → C in PGL1. 2 PublicationsCorresponds to variant dbSNP:rs104894304Ensembl. | 1 | |
Natural variantiVAR_017873 | 139 | L → P in PGL1. 1 PublicationCorresponds to variant dbSNP:rs80338847Ensembl. | 1 | |
Natural variantiVAR_054384 | 145 | H → N Found in an individual with features of Cowden syndrome; associated with increased manganese superoxide dismutase expression; associated with normal reactive oxygen species; associated with no change in AKT expression but a 1.2-fold increase of MAPK expression. 1 PublicationCorresponds to variant dbSNP:rs11214077Ensembl. | 1 | |
Natural variantiVAR_054385 | 148 | G → V in PGL1. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054744 | 19 – 57 | Missing in isoform 2. CuratedAdd BLAST | 39 | |
Alternative sequenceiVSP_054745 | 56 – 158 | HSGSK…AMLWK → HWALDKLLLTMFMGMPCRKL PRQGFWHFQ in isoform 3. CuratedAdd BLAST | 103 | |
Alternative sequenceiVSP_054746 | 106 – 143 | GLGQV…LCYFN → LECNGAILARHDLGSARSQL TATSAFRVQAILLPQPPK in isoform 4. CuratedAdd BLAST | 38 | |
Alternative sequenceiVSP_054747 | 144 – 159 | Missing in isoform 4. CuratedAdd BLAST | 16 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000375549; ENSP00000364699; ENSG00000204370. [O14521-1] ENST00000525291; ENSP00000436669; ENSG00000204370. [O14521-2] ENST00000526592; ENSP00000432005; ENSG00000204370. [O14521-4] ENST00000528048; ENSP00000436217; ENSG00000204370. [O14521-3] |
GeneIDi | 6392. |
KEGGi | hsa:6392. |
UCSCi | uc001pmz.5. human. [O14521-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | DHSD_HUMAN | |
Accessioni | O14521Primary (citable) accession number: O14521 Secondary accession number(s): A6ND90 Q6IRW2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | January 1, 1998 | |
Last modified: | February 28, 2018 | |
This is version 188 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |