SDHD

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

Pathwayⁱ

Carbohydrate metabolism; tricarboxylic acid cycle.

Sites

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Metal bindingⁱ	102 – 102	1	Iron (heme axial ligand); shared with SDHCBy similarity
Binding siteⁱ	114 – 114	1	Ubiquinone; shared with IP/SDHBBy similarity

GO - Molecular functionⁱ

electron carrier activity
Source: UniProtKB
Traceable author statementⁱ
- 9533030
heme binding Source: UniProtKB
metal ion binding Source: UniProtKB-KW
succinate dehydrogenase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 9533030
ubiquinone binding Source: UniProtKB

Enzyme and pathway databases

BioCycⁱ	MetaCyc:ENSG00000150781-MONOMER.
Reactomeⁱ	REACT_1785. Citric acid cycle (TCA cycle). REACT_22393. Respiratory electron transport.
UniPathwayⁱ	UPA00223.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial Short 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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640: Chromosome 11

Organism-specific databases

HGNCⁱ	HGNC:10683. SDHD.

HGNCⁱ

HGNC:10683. SDHD.

Subcellular locationⁱ

Mitochondrion inner membrane; Multi-pass membrane protein

Topology

Feature key	Position(s)	Length	Description	Actions
Topological domainⁱ	57 – 63	7	Mitochondrial matrixBy similarity
Transmembraneⁱ	64 – 85	22	HelicalBy similarity	Add BLAST
Topological domainⁱ	86 – 90	5	Mitochondrial intermembraneBy similarity
Transmembraneⁱ	91 – 111	21	HelicalBy similarity	Add BLAST
Topological domainⁱ	112 – 120	9	Mitochondrial matrixBy similarity
Transmembraneⁱ	121 – 142	22	HelicalBy similarity	Add BLAST
Topological domainⁱ	143 – 159	17	Mitochondrial intermembraneBy similarity	Add BLAST

GO - Cellular componentⁱ

integral component of membrane Source: UniProtKB-KW
mitochondrial envelope
Source: ProtInc
Traceable author statementⁱ
- 9533030
mitochondrial inner membrane
Source: UniProtKB
Inferred from direct assayⁱ
- 9533030
mitochondrial respiratory chain complex II Source: UniProtKB
mitochondrion
Source: ProtInc
Traceable author statementⁱ
- 2302193

Complete GO annotation...

Keywords - Cellular componentⁱ

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Paragangliomas 15 Publications
Manual assertion based on experiment inⁱ
Ref.11
"Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma."
Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B.
Science 287:848-851(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102.
Ref.12
"Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma."
Milunsky J.M., Maher T.A., Michels V.V., Milunsky A.
Am. J. Med. Genet. 100:311-314(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PGL1 CYS-114.
Ref.13
"Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss."
Badenhop R.F., Cherian S., Lord R.S.A., Baysal B.E., Taschner P.E.M., Schofield P.R.
Genes Chromosomes Cancer 31:255-263(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PGL1 TYR-93 DEL.
Ref.14
"Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene."
Taschner P.E.M., Jansen J.C., Baysal B.E., Bosch A., Rosenberg E.H., Broecker-Vriends A.H.J.T., van Der Mey A.G.L., van Ommen G.-J.B., Cornelisse C.J., Devilee P.
Genes Chromosomes Cancer 31:274-281(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PGL1 TYR-92 AND PRO-139.
Ref.20
"Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations."
Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C.
JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.

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.

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	81 – 81	1	P → L in PGL1 and pheochromocytoma. 3 Publications Manual assertion based on experiment inⁱ Ref.10 "Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma." Gimm O., Armanios M., Dziema H., Neumann H.P.H., Eng C. Cancer Res. 60:6822-6825(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PHEOCHROMOCYTOMA LEU-81. Ref.11 "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma." Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B. Science 287:848-851(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102. Ref.20 "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C. JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.	VAR_010038
Natural variantⁱ	92 – 92	1	D → Y in PGL1 and pheochromocytoma. 4 Publications Manual assertion based on experiment inⁱ Ref.11 "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma." Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B. Science 287:848-851(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102. Ref.14 "Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene." Taschner P.E.M., Jansen J.C., Baysal B.E., Bosch A., Rosenberg E.H., Broecker-Vriends A.H.J.T., van Der Mey A.G.L., van Ommen G.-J.B., Cornelisse C.J., Devilee P. Genes Chromosomes Cancer 31:274-281(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 TYR-92 AND PRO-139. Ref.18 "Germ-line mutations in nonsyndromic pheochromocytoma." The Freiburg-Warsaw-Columbus pheochromocytoma study group Neumann H.P.H., Bausch B., McWhinney S.R., Bender B.U., Gimm O., Franke G., Schipper J., Klisch J., Altehoefer C., Zerres K., Januszewicz A., Smith W.M., Munk R., Manz T., Glaesker S., Apel T.W., Treier M., Reineke M. Eng C. N. Engl. J. Med. 346:1459-1466(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PHEOCHROMOCYTOMA TYR-92. Ref.20 "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C. JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.	VAR_010039
Natural variantⁱ	93 – 93	1	Missing in PGL1. 1 Publication Manual assertion based on experiment inⁱ Ref.13 "Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss." Badenhop R.F., Cherian S., Lord R.S.A., Baysal B.E., Taschner P.E.M., Schofield P.R. Genes Chromosomes Cancer 31:255-263(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PGL1 TYR-93 DEL.	VAR_018519
Natural variantⁱ	102 – 102	1	H → L in PGL1. 1 Publication Manual assertion based on experiment inⁱ Ref.11 "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma." Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B. Science 287:848-851(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102.	VAR_010040
Natural variantⁱ	114 – 114	1	Y → C in PGL1. 2 Publications Manual assertion based on experiment inⁱ Ref.12 "Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma." Milunsky J.M., Maher T.A., Michels V.V., Milunsky A. Am. J. Med. Genet. 100:311-314(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PGL1 CYS-114. Ref.20 "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C. JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.	VAR_017872
Natural variantⁱ	139 – 139	1	L → P in PGL1. 1 Publication Manual assertion based on experiment inⁱ Ref.14 "Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene." Taschner P.E.M., Jansen J.C., Baysal B.E., Bosch A., Rosenberg E.H., Broecker-Vriends A.H.J.T., van Der Mey A.G.L., van Ommen G.-J.B., Cornelisse C.J., Devilee P. Genes Chromosomes Cancer 31:274-281(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 TYR-92 AND PRO-139.	VAR_017873
Natural variantⁱ	148 – 148	1	G → V in PGL1. 1 Publication Manual assertion based on experiment inⁱ Ref.20 "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C. JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.	VAR_054385

Pheochromocytoma3 Publications
Manual assertion based on experiment inⁱ
Ref.10
"Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma."
Gimm O., Armanios M., Dziema H., Neumann H.P.H., Eng C.
Cancer Res. 60:6822-6825(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHEOCHROMOCYTOMA LEU-81.
Ref.18
"Germ-line mutations in nonsyndromic pheochromocytoma."
The Freiburg-Warsaw-Columbus pheochromocytoma study group
Neumann H.P.H., Bausch B., McWhinney S.R., Bender B.U., Gimm O., Franke G., Schipper J., Klisch J., Altehoefer C., Zerres K., Januszewicz A., Smith W.M., Munk R., Manz T., Glaesker S., Apel T.W., Treier M., Reineke M.
Eng C.
N. Engl. J. Med. 346:1459-1466(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHEOCHROMOCYTOMA TYR-92.
Ref.20
"Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations."
Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C.
JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.

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.

Intestinal carcinoid tumor1 Publication
Manual assertion based on experiment inⁱ
Ref.16
"Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas."
Kytoelae S., Nord B., Elder E.E., Carling T., Kjellman M., Cedermark B., Juhlin C., Hoeoeg A., Isola J., Larsson C.
Genes Chromosomes Cancer 34:325-332(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN INTESTINAL CARCINOID TUMOR, VARIANTS SER-12 AND ARG-50.

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.

Paraganglioma and gastric stromal sarcoma1 Publication
Manual assertion based on experiment inⁱ
Ref.22
"Familial gastrointestinal stromal tumors and germ-line mutations."
McWhinney S.R., Pasini B., Stratakis C.A.
N. Engl. J. Med. 357:1054-1056(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PGGSS.

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.

Cowden syndrome 31 Publication
Manual assertion based on experiment inⁱ
Ref.23
"Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes."
Ni Y., Zbuk K.M., Sadler T., Patocs A., Lobo G., Edelman E., Platzer P., Orloff M.S., Waite K.A., Eng C.
Am. J. Hum. Genet. 83:261-268(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SER-12; ARG-50 AND ASN-145, CHARACTERIZATION OF VARIANTS SER-12; ARG-50 AND ASN-145, INVOLVEMENT IN CWS3.

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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

MIMⁱ	114900. phenotype. 168000. phenotype. 171300. phenotype. 606864. phenotype. 615106. phenotype.
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.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Transit peptideⁱ	1 – 56	56	MitochondrionSequence Analysis			Add BLAST
Chainⁱ	57 – 159	103	Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial		PRO_0000006487	Add BLAST

Proteomic databases

MaxQBⁱ	O14521.
PaxDbⁱ	O14521.
PRIDEⁱ	O14521.

Expressionⁱ

Gene expression databases

Bgeeⁱ	O14521.
CleanExⁱ	HS_SDHD.
ExpressionAtlasⁱ	O14521. baseline and differential.
Genevestigatorⁱ	O14521.

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. 1 interaction.
IntActⁱ	O14521. 1 interaction.
STRINGⁱ	9606.ENSP00000364699.

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O14521.
SMRⁱ	O14521. Positions 59-159.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the CybS family.Curated

Keywords - Domainⁱ

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	NOG264646.
GeneTreeⁱ	ENSGT00390000010003.
HOGENOMⁱ	HOG000290645.
HOVERGENⁱ	HBG003003.
InParanoidⁱ	O14521.
KOⁱ	K00237.
OMAⁱ	GTQHIHL.
PhylomeDBⁱ	O14521.
TreeFamⁱ	TF313310.

Family and domain databases

InterProⁱ	IPR007992. CybS. [Graphical view]
PANTHERⁱ	PTHR13337. PTHR13337. 1 hit.
Pfamⁱ	PF05328. CybS. 1 hit. [Graphical view]

Sequences (4)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align

Isoform 1 (identifier: O14521-1) [UniParc]FASTA Add 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.

« Hide

        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

Length:159

Mass (Da):17,043

Last modified:January 1, 1998 - v1

Checksum:ⁱ6B1AA94831C8C3B6

GO

Isoform 2 (identifier: O14521-2) [UniParc]FASTA Add to Basket

The sequence of this isoform differs from the canonical sequence as follows:
19-57: Missing.

« Hide

        10         20         30         40         50
MAVLWRLSAV CGALGGRAGS KAASLHWTSE RVVSVLLLGL LPAAYLNPCS 
        60         70         80         90        100
AMDYSLAAAL TLHGHWGLGQ VVTDYVHGDA LQKAAKAGLL ALSALTFAGL 
       110        120
CYFNYHDVGI CKAVAMLWKL

Note: No experimental confirmation available. Gene prediction based on EST data.

Show »

Length:120

Mass (Da):12,615

Checksum:ⁱ697849862CBB23D2

GO

Isoform 3 (identifier: O14521-3) [UniParc]FASTA Add to Basket

The sequence of this isoform differs from the canonical sequence as follows:
56-158: HSGSKAASLH...ICKAVAMLWK → HWALDKLLLTMFMGMPCRKLPRQGFWHFQ

« Hide

        10         20         30         40         50
MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH 
        60         70         80 
LSPSHHWALD KLLLTMFMGM PCRKLPRQGF WHFQL

Note: No experimental confirmation available. Gene prediction based on EST data.

Show »

Length:85

Mass (Da):9,720

Checksum:ⁱ590AF9A98DD8AE76

GO

Isoform 4 (identifier: O14521-4) [UniParc]FASTA Add to Basket

The sequence of this isoform differs from the canonical sequence as follows:
106-143: GLGQVVTDYV...LTFAGLCYFN → LECNGAILAR...QAILLPQPPK
144-159: Missing.

« Hide

        10         20         30         40         50
MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH 
        60         70         80         90        100
LSPSHHSGSK AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT 
       110        120        130        140 
LHGHWLECNG AILARHDLGS ARSQLTATSA FRVQAILLPQ PPK

Note: No experimental confirmation available. Gene prediction based on EST data.

Show »

Length:143

Mass (Da):15,361

Checksum:ⁱE348643A604EDC0F

GO

Experimental Info

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Sequence conflictⁱ	74 – 74	1	V → F in AAH70307. (PubMed:15489334)Curated

Natural variant

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	12 – 12	1	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 Publications Manual assertion based on experiment inⁱ Ref.15 "Germline SDHD mutation in paraganglioma of the spinal cord." Masuoka J., Brandner S., Paulus W., Soffer D., Vital A., Chimelli L., Jouvet A., Yonekawa Y., Kleihues P., Ohgaki H. Oncogene 20:5084-5086(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-12. Ref.16 "Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas." Kytoelae S., Nord B., Elder E.E., Carling T., Kjellman M., Cedermark B., Juhlin C., Hoeoeg A., Isola J., Larsson C. Genes Chromosomes Cancer 34:325-332(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN INTESTINAL CARCINOID TUMOR, VARIANTS SER-12 AND ARG-50. Ref.17 "Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas." Gimenez-Roqueplo A.-P., Favier J., Rustin P., Rieubland C., Crespin M., Nau V., Khau Van Kien P., Corvol P., Plouin P.-F., Jeunemaitre X. Cancer Res. 63:5615-5621(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-12 AND ARG-50. Ref.19 "G12S and H50R variations are polymorphisms in the SDHD gene." Cascon A., Ruiz-Llorente S., Cebrian A., Leton R., Telleria D., Benitez J., Robledo M. Genes Chromosomes Cancer 37:220-221(2003) [PubMed] [Europe PMC] [Abstract] Cited for: DISCUSSION OF PATHOGENIC ROLE OF VARIANTS SER-12 AND ARG-50. Ref.21 "SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism." Leube B., Huber R., Goecke T.O., Sandmann W., Royer-Pokora B. Clin. Genet. 65:61-63(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-12. Ref.23 "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes." Ni Y., Zbuk K.M., Sadler T., Patocs A., Lobo G., Edelman E., Platzer P., Orloff M.S., Waite K.A., Eng C. Am. J. Hum. Genet. 83:261-268(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-12; ARG-50 AND ASN-145, CHARACTERIZATION OF VARIANTS SER-12; ARG-50 AND ASN-145, INVOLVEMENT IN CWS3. Ref.24 "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome." Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. Wilson R.K. Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-12. Corresponds to variant rs34677591 [ dbSNP \| Ensembl ].	VAR_017870
Natural variantⁱ	50 – 50	1	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 Publications Manual assertion based on experiment inⁱ Ref.16 "Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas." Kytoelae S., Nord B., Elder E.E., Carling T., Kjellman M., Cedermark B., Juhlin C., Hoeoeg A., Isola J., Larsson C. Genes Chromosomes Cancer 34:325-332(2002) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN INTESTINAL CARCINOID TUMOR, VARIANTS SER-12 AND ARG-50. Ref.17 "Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas." Gimenez-Roqueplo A.-P., Favier J., Rustin P., Rieubland C., Crespin M., Nau V., Khau Van Kien P., Corvol P., Plouin P.-F., Jeunemaitre X. Cancer Res. 63:5615-5621(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-12 AND ARG-50. Ref.19 "G12S and H50R variations are polymorphisms in the SDHD gene." Cascon A., Ruiz-Llorente S., Cebrian A., Leton R., Telleria D., Benitez J., Robledo M. Genes Chromosomes Cancer 37:220-221(2003) [PubMed] [Europe PMC] [Abstract] Cited for: DISCUSSION OF PATHOGENIC ROLE OF VARIANTS SER-12 AND ARG-50. Ref.23 "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes." Ni Y., Zbuk K.M., Sadler T., Patocs A., Lobo G., Edelman E., Platzer P., Orloff M.S., Waite K.A., Eng C. Am. J. Hum. Genet. 83:261-268(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-12; ARG-50 AND ASN-145, CHARACTERIZATION OF VARIANTS SER-12; ARG-50 AND ASN-145, INVOLVEMENT IN CWS3. Corresponds to variant rs11214077 [ dbSNP \| Ensembl ].	VAR_017871
Natural variantⁱ	81 – 81	1	P → L in PGL1 and pheochromocytoma. 3 Publications Manual assertion based on experiment inⁱ Ref.10 "Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma." Gimm O., Armanios M., Dziema H., Neumann H.P.H., Eng C. Cancer Res. 60:6822-6825(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PHEOCHROMOCYTOMA LEU-81. Ref.11 "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma." Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B. Science 287:848-851(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102. Ref.20 "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C. JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.	VAR_010038
Natural variantⁱ	92 – 92	1	D → Y in PGL1 and pheochromocytoma. 4 Publications Manual assertion based on experiment inⁱ Ref.11 "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma." Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B. Science 287:848-851(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102. Ref.14 "Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene." Taschner P.E.M., Jansen J.C., Baysal B.E., Bosch A., Rosenberg E.H., Broecker-Vriends A.H.J.T., van Der Mey A.G.L., van Ommen G.-J.B., Cornelisse C.J., Devilee P. Genes Chromosomes Cancer 31:274-281(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 TYR-92 AND PRO-139. Ref.18 "Germ-line mutations in nonsyndromic pheochromocytoma." The Freiburg-Warsaw-Columbus pheochromocytoma study group Neumann H.P.H., Bausch B., McWhinney S.R., Bender B.U., Gimm O., Franke G., Schipper J., Klisch J., Altehoefer C., Zerres K., Januszewicz A., Smith W.M., Munk R., Manz T., Glaesker S., Apel T.W., Treier M., Reineke M. Eng C. N. Engl. J. Med. 346:1459-1466(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PHEOCHROMOCYTOMA TYR-92. Ref.20 "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C. JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.	VAR_010039
Natural variantⁱ	93 – 93	1	Missing in PGL1. 1 Publication Manual assertion based on experiment inⁱ Ref.13 "Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss." Badenhop R.F., Cherian S., Lord R.S.A., Baysal B.E., Taschner P.E.M., Schofield P.R. Genes Chromosomes Cancer 31:255-263(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PGL1 TYR-93 DEL.	VAR_018519
Natural variantⁱ	102 – 102	1	H → L in PGL1. 1 Publication Manual assertion based on experiment inⁱ Ref.11 "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma." Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B. Science 287:848-851(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102.	VAR_010040
Natural variantⁱ	114 – 114	1	Y → C in PGL1. 2 Publications Manual assertion based on experiment inⁱ Ref.12 "Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma." Milunsky J.M., Maher T.A., Michels V.V., Milunsky A. Am. J. Med. Genet. 100:311-314(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PGL1 CYS-114. Ref.20 "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C. JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.	VAR_017872
Natural variantⁱ	139 – 139	1	L → P in PGL1. 1 Publication Manual assertion based on experiment inⁱ Ref.14 "Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene." Taschner P.E.M., Jansen J.C., Baysal B.E., Bosch A., Rosenberg E.H., Broecker-Vriends A.H.J.T., van Der Mey A.G.L., van Ommen G.-J.B., Cornelisse C.J., Devilee P. Genes Chromosomes Cancer 31:274-281(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 TYR-92 AND PRO-139.	VAR_017873
Natural variantⁱ	145 – 145	1	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 Publication Manual assertion based on experiment inⁱ Ref.23 "Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes." Ni Y., Zbuk K.M., Sadler T., Patocs A., Lobo G., Edelman E., Platzer P., Orloff M.S., Waite K.A., Eng C. Am. J. Hum. Genet. 83:261-268(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS SER-12; ARG-50 AND ASN-145, CHARACTERIZATION OF VARIANTS SER-12; ARG-50 AND ASN-145, INVOLVEMENT IN CWS3. Corresponds to variant rs11214077 [ dbSNP \| Ensembl ].	VAR_054384
Natural variantⁱ	148 – 148	1	G → V in PGL1. 1 Publication Manual assertion based on experiment inⁱ Ref.20 "Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations." Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C. JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.	VAR_054385

Alternative sequence

Feature key	Position(s)	Length	Description	Feature identifier	Actions
Alternative sequenceⁱ	19 – 57	39	Missing in isoform 2. Curated	VSP_054744	Add BLAST
Alternative sequenceⁱ	56 – 158	103	HSGSK…AMLWK → HWALDKLLLTMFMGMPCRKL PRQGFWHFQ in isoform 3. Curated	VSP_054745	Add BLAST
Alternative sequenceⁱ	106 – 143	38	GLGQV…LCYFN → LECNGAILARHDLGSARSQL TATSAFRVQAILLPQPPK in isoform 4. Curated	VSP_054746	Add BLAST
Alternative sequenceⁱ	144 – 159	16	Missing in isoform 4. Curated	VSP_054747	Add BLAST

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AB006202 mRNA. Translation: BAA22054.1. AB026906 Genomic DNA. Translation: BAA81889.1. AK075360 mRNA. Translation: BAG52120.1. BT007238 mRNA. Translation: AAP35902.1. CR456932 mRNA. Translation: CAG33213.1. AP002007 Genomic DNA. No translation available. CH471065 Genomic DNA. Translation: EAW67181.1. BC005263 mRNA. Translation: AAH05263.1. BC009574 mRNA. Translation: AAH09574.1. BC012603 mRNA. Translation: AAH12603.1. BC015188 mRNA. Translation: AAH15188.1. BC015992 mRNA. Translation: AAH15992.1. BC022350 mRNA. Translation: AAH22350.1. BC070307 mRNA. Translation: AAH70307.1. BC071755 mRNA. Translation: AAH71755.1. BC071756 mRNA. Translation: AAH71756.1.
CCDSⁱ	CCDS31678.1. [O14521-1] CCDS60958.1. [O14521-4] CCDS60959.1. [O14521-3] CCDS60960.1. [O14521-2]
RefSeqⁱ	NP_001263432.1. NM_001276503.1. [O14521-3] NP_001263433.1. NM_001276504.1. [O14521-2] NP_001263435.1. NM_001276506.1. [O14521-4] NP_002993.1. NM_003002.3. [O14521-1]
UniGeneⁱ	Hs.356270. Hs.744039.

Genome annotation databases

Ensemblⁱ	ENST00000375549; ENSP00000364699; ENSG00000204370. [O14521-1] ENST00000525291; ENSP00000436669; ENSG00000204370. [O14521-2] ENST00000526592; ENSP00000432005; ENSG00000204370. [O14521-4] ENST00000528048; ENSP00000436217; ENSG00000204370. [O14521-3] ENST00000614349; ENSP00000480666; ENSG00000204370. [O14521-4]
GeneIDⁱ	6392.
KEGGⁱ	hsa:6392.
UCSCⁱ	uc001pmz.4. human. [O14521-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Cross-referencesⁱ

Web resourcesⁱ

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Wikipedia

SDHD entry

TCA Cycle Gene Mutation Database

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AB006202 mRNA. Translation: BAA22054.1. AB026906 Genomic DNA. Translation: BAA81889.1. AK075360 mRNA. Translation: BAG52120.1. BT007238 mRNA. Translation: AAP35902.1. CR456932 mRNA. Translation: CAG33213.1. AP002007 Genomic DNA. No translation available. CH471065 Genomic DNA. Translation: EAW67181.1. BC005263 mRNA. Translation: AAH05263.1. BC009574 mRNA. Translation: AAH09574.1. BC012603 mRNA. Translation: AAH12603.1. BC015188 mRNA. Translation: AAH15188.1. BC015992 mRNA. Translation: AAH15992.1. BC022350 mRNA. Translation: AAH22350.1. BC070307 mRNA. Translation: AAH70307.1. BC071755 mRNA. Translation: AAH71755.1. BC071756 mRNA. Translation: AAH71756.1.
CCDSⁱ	CCDS31678.1. [O14521-1] CCDS60958.1. [O14521-4] CCDS60959.1. [O14521-3] CCDS60960.1. [O14521-2]
RefSeqⁱ	NP_001263432.1. NM_001276503.1. [O14521-3] NP_001263433.1. NM_001276504.1. [O14521-2] NP_001263435.1. NM_001276506.1. [O14521-4] NP_002993.1. NM_003002.3. [O14521-1]
UniGeneⁱ	Hs.356270. Hs.744039.

3D structure databases

ProteinModelPortalⁱ	O14521.
SMRⁱ	O14521. Positions 59-159.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	112293. 1 interaction.
IntActⁱ	O14521. 1 interaction.
STRINGⁱ	9606.ENSP00000364699.

Chemistry

DrugBankⁱ	DB00756. Hexachlorophene. DB00139. Succinic acid.

DrugBankⁱ

DB00756. Hexachlorophene.
DB00139. Succinic acid.

Proteomic databases

MaxQBⁱ	O14521.
PaxDbⁱ	O14521.
PRIDEⁱ	O14521.

Protocols and materials databases

DNASUⁱ	6392.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000375549; ENSP00000364699; ENSG00000204370. [O14521-1] ENST00000525291; ENSP00000436669; ENSG00000204370. [O14521-2] ENST00000526592; ENSP00000432005; ENSG00000204370. [O14521-4] ENST00000528048; ENSP00000436217; ENSG00000204370. [O14521-3] ENST00000614349; ENSP00000480666; ENSG00000204370. [O14521-4]
GeneIDⁱ	6392.
KEGGⁱ	hsa:6392.
UCSCⁱ	uc001pmz.4. human. [O14521-1]

Organism-specific databases

CTDⁱ	6392.
GeneCardsⁱ	GC11P111991.
GeneReviewsⁱ	SDHD.
H-InvDB	HIX0029526.
HGNCⁱ	HGNC:10683. SDHD.
HPAⁱ	HPA045727.
MIMⁱ	114900. phenotype. 168000. phenotype. 171300. phenotype. 602690. gene. 606864. phenotype. 615106. phenotype.
neXtProtⁱ	NX_O14521.
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.
GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	NOG264646.
GeneTreeⁱ	ENSGT00390000010003.
HOGENOMⁱ	HOG000290645.
HOVERGENⁱ	HBG003003.
InParanoidⁱ	O14521.
KOⁱ	K00237.
OMAⁱ	GTQHIHL.
PhylomeDBⁱ	O14521.
TreeFamⁱ	TF313310.

Enzyme and pathway databases

UniPathwayⁱ	UPA00223.
BioCycⁱ	MetaCyc:ENSG00000150781-MONOMER.
Reactomeⁱ	REACT_1785. Citric acid cycle (TCA cycle). REACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSⁱ	SDHD. human.
GeneWikiⁱ	SDHD.
GenomeRNAiⁱ	6392.
NextBioⁱ	24838.
PROⁱ	O14521.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	O14521.
CleanExⁱ	HS_SDHD.
ExpressionAtlasⁱ	O14521. baseline and differential.
Genevestigatorⁱ	O14521.

Family and domain databases

InterProⁱ	IPR007992. CybS. [Graphical view]
PANTHERⁱ	PTHR13337. PTHR13337. 1 hit.
Pfamⁱ	PF05328. CybS. 1 hit. [Graphical view]
ProtoNetⁱ	Search...

Publicationsⁱ

« Hide 'large scale' publications

"Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23."
Hirawake H., Taniwaki M., Tamura A., Kojima S., Kita K.
Cytogenet. Cell Genet. 79:132-138(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liver.
"Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase."
Hirawake H., Taniwaki M., Tamura A., Amino H., Tomitsuka E., Kita K.
Biochim. Biophys. Acta 1412:295-300(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.
Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R.
Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Bone marrow, Brain, Lung and Skeletal muscle.
"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
"Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma."
Gimm O., Armanios M., Dziema H., Neumann H.P.H., Eng C.
Cancer Res. 60:6822-6825(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHEOCHROMOCYTOMA LEU-81.
"Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma."
Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B.
Science 287:848-851(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PGL1 LEU-81; TYR-92 AND LEU-102.
"Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma."
Milunsky J.M., Maher T.A., Michels V.V., Milunsky A.
Am. J. Med. Genet. 100:311-314(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PGL1 CYS-114.
"Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss."
Badenhop R.F., Cherian S., Lord R.S.A., Baysal B.E., Taschner P.E.M., Schofield P.R.
Genes Chromosomes Cancer 31:255-263(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PGL1 TYR-93 DEL.
"Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene."
Taschner P.E.M., Jansen J.C., Baysal B.E., Bosch A., Rosenberg E.H., Broecker-Vriends A.H.J.T., van Der Mey A.G.L., van Ommen G.-J.B., Cornelisse C.J., Devilee P.
Genes Chromosomes Cancer 31:274-281(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PGL1 TYR-92 AND PRO-139.
"Germline SDHD mutation in paraganglioma of the spinal cord."
Masuoka J., Brandner S., Paulus W., Soffer D., Vital A., Chimelli L., Jouvet A., Yonekawa Y., Kleihues P., Ohgaki H.
Oncogene 20:5084-5086(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-12.
"Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas."
Kytoelae S., Nord B., Elder E.E., Carling T., Kjellman M., Cedermark B., Juhlin C., Hoeoeg A., Isola J., Larsson C.
Genes Chromosomes Cancer 34:325-332(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN INTESTINAL CARCINOID TUMOR, VARIANTS SER-12 AND ARG-50.
"Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas."
Gimenez-Roqueplo A.-P., Favier J., Rustin P., Rieubland C., Crespin M., Nau V., Khau Van Kien P., Corvol P., Plouin P.-F., Jeunemaitre X.
Cancer Res. 63:5615-5621(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SER-12 AND ARG-50.
"Germ-line mutations in nonsyndromic pheochromocytoma."
The Freiburg-Warsaw-Columbus pheochromocytoma study group
Neumann H.P.H., Bausch B., McWhinney S.R., Bender B.U., Gimm O., Franke G., Schipper J., Klisch J., Altehoefer C., Zerres K., Januszewicz A., Smith W.M., Munk R., Manz T., Glaesker S., Apel T.W., Treier M., Reineke M.
Eng C.
N. Engl. J. Med. 346:1459-1466(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHEOCHROMOCYTOMA TYR-92.
"G12S and H50R variations are polymorphisms in the SDHD gene."
Cascon A., Ruiz-Llorente S., Cebrian A., Leton R., Telleria D., Benitez J., Robledo M.
Genes Chromosomes Cancer 37:220-221(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: DISCUSSION OF PATHOGENIC ROLE OF VARIANTS SER-12 AND ARG-50.
"Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations."
Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C.
JAMA 292:943-951(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PGL1 LEU-81; CYS-114 AND VAL-148, VARIANT PHEOCHROMOCYTOMA TYR-92.
Erratum
Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C.
JAMA 292:1686-1686(2004)
"SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism."
Leube B., Huber R., Goecke T.O., Sandmann W., Royer-Pokora B.
Clin. Genet. 65:61-63(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-12.
"Familial gastrointestinal stromal tumors and germ-line mutations."
McWhinney S.R., Pasini B., Stratakis C.A.
N. Engl. J. Med. 357:1054-1056(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PGGSS.
"Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes."
Ni Y., Zbuk K.M., Sadler T., Patocs A., Lobo G., Edelman E., Platzer P., Orloff M.S., Waite K.A., Eng C.
Am. J. Hum. Genet. 83:261-268(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SER-12; ARG-50 AND ASN-145, CHARACTERIZATION OF VARIANTS SER-12; ARG-50 AND ASN-145, INVOLVEMENT IN CWS3.
"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S.
Wilson R.K.
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-12.

+Additional computationally mapped references.

Entry informationⁱ

Entry nameⁱ

DHSD_HUMAN

Accessionⁱ

Primary (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 4, 2015
This is version 161 of the entry and version 1 of the sequence. [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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PATHWAY comments
Index of metabolic and biosynthesis pathways
SIMILARITY comments
Index of protein domains and families

External Data

Dasty 3

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

UniProtKB

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O14521 - DHSD_HUMAN

UniProt

O14521 - DHSD_HUMAN

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Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial

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<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functioni

<p>Describes the metabolic pathway(s) associated with a protein.</p><p><a href='../manual/pathway' target='_top'>More...</a></p>Pathwayi

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>Provides information on the disease(s) and phenotype(s) associated with the deficiency of a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>Provides information on the tertiary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (4)i

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>Provides links to various web resources that are relevant for a specific protein.</p><p><a href='../manual/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

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Chemistry

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Contains the literature citations that are the sources of data used to annotate the entry. Each reference is numbered and contains several subsections allowing a precise description of a given citation.</p><p><a href='../manual/publications_section' target='_top'>More...</a></p>Publicationsi

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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External Data

Functionⁱ

Pathwayⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequences (4)ⁱ

Cross-referencesⁱ

Web resourcesⁱ

Publicationsⁱ

Entry informationⁱ

Miscellaneousⁱ