O14521 (DHSD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SDHD
Synonyms:	SDH4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	159 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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 structure	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.
Involvement in disease	Paragangliomas 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12 Ref.13 Ref.14 Ref.20 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. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. 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. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.23 Cowden syndrome 3 (CWS3) [MIM:615106]: A 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. Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.24
Sequence similarities	Belongs to the CybS family.

Ontologies

Keywords
Biological process	Electron transport Transport Tricarboxylic acid cycle
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Transit peptide Transmembrane Transmembrane helix
Ligand	Heme Iron Metal-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular metabolic process Traceable author statement. Source: Reactome respiratory electron transport chain Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome tricarboxylic acid cycle Inferred from direct assay Ref.1. Source: UniProtKB
Cellular_component	integral component of membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial envelope Traceable author statement Ref.1. Source: ProtInc mitochondrial inner membrane Inferred from direct assay Ref.1. Source: UniProtKB mitochondrial respiratory chain complex II Inferred from sequence or structural similarity. Source: UniProtKB mitochondrion Traceable author statement PubMed 2302193. Source: ProtInc
Molecular_function	electron carrier activity Traceable author statement Ref.1. Source: UniProtKB heme binding Inferred from sequence or structural similarity. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW succinate dehydrogenase activity Inferred from direct assay Ref.1. Source: UniProtKB ubiquinone binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O14521-1)

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.

Isoform 2 (identifier: O14521-2)

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

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

Isoform 3 (identifier: O14521-3)

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

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

Isoform 4 (identifier: O14521-4)

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

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 56	56	Mitochondrion Potential
	Chain	57 – 159	103	Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial		PRO_0000006487
Regions
	Topological domain	57 – 63	7	Mitochondrial matrix By similarity
	Transmembrane	64 – 85	22	Helical; By similarity
	Topological domain	86 – 90	5	Mitochondrial intermembrane By similarity
	Transmembrane	91 – 111	21	Helical; By similarity
	Topological domain	112 – 120	9	Mitochondrial matrix By similarity
	Transmembrane	121 – 142	22	Helical; By similarity
	Topological domain	143 – 159	17	Mitochondrial intermembrane By similarity
Sites
	Metal binding	102	1	Iron (heme axial ligand); shared with SDHC By similarity
	Binding site	114	1	Ubiquinone; shared with IP/SDHB By similarity
Natural variations
	Alternative sequence	19 – 57	39	Missing in isoform 2.		VSP_054744
	Alternative sequence	56 – 158	103	HSGSK…AMLWK → HWALDKLLLTMFMGMPCRKL PRQGFWHFQ in isoform 3.		VSP_054745
	Alternative sequence	106 – 143	38	GLGQV…LCYFN → LECNGAILARHDLGSARSQL TATSAFRVQAILLPQPPK in isoform 4.		VSP_054746
	Alternative sequence	144 – 159	16	Missing in isoform 4.		VSP_054747
	Natural variant	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. Ref.15 Ref.16 Ref.17 Ref.19 Ref.22 Ref.24 Ref.25 Corresponds to variant rs34677591 [ dbSNP | Ensembl ].		VAR_017870
	Natural variant	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. Ref.16 Ref.17 Ref.19 Ref.24 Corresponds to variant rs11214077 [ dbSNP | Ensembl ].		VAR_017871
	Natural variant	81	1	P → L in PGL1 and pheochromocytoma. Ref.10 Ref.11 Ref.20		VAR_010038
	Natural variant	92	1	D → Y in PGL1 and pheochromocytoma. Ref.11 Ref.14 Ref.18 Ref.20		VAR_010039
	Natural variant	93	1	Missing in PGL1. Ref.13		VAR_018519
	Natural variant	102	1	H → L in PGL1. Ref.11		VAR_010040
	Natural variant	114	1	Y → C in PGL1. Ref.12 Ref.20		VAR_017872
	Natural variant	139	1	L → P in PGL1. Ref.14		VAR_017873
	Natural variant	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. Ref.24 Corresponds to variant rs11214077 [ dbSNP | Ensembl ].		VAR_054384
	Natural variant	148	1	G → V in PGL1. Ref.20		VAR_054385
Experimental info
	Sequence conflict	74	1	V → F in AAH70307. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 6B1AA94831C8C3B6	FASTA	159	17,043
	10 20 30 40 50 60 MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH LSPSHHSGSK 70 80 90 100 110 120 AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT LHGHWGLGQV VTDYVHGDAL 130 140 150 QKAAKAGLLA LSALTFAGLC YFNYHDVGIC KAVAMLWKL
	Isoform 2 [UniParc]. Checksum: 697849862CBB23D2	FASTA	120	12,615
	10 20 30 40 50 60 MAVLWRLSAV CGALGGRAGS KAASLHWTSE RVVSVLLLGL LPAAYLNPCS AMDYSLAAAL 70 80 90 100 110 120 TLHGHWGLGQ VVTDYVHGDA LQKAAKAGLL ALSALTFAGL CYFNYHDVGI CKAVAMLWKL
	Isoform 3 [UniParc]. Checksum: 590AF9A98DD8AE76	FASTA	85	9,720
	10 20 30 40 50 60 MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH LSPSHHWALD 70 80 KLLLTMFMGM PCRKLPRQGF WHFQL
	Isoform 4 [UniParc]. Checksum: E348643A604EDC0F	FASTA	143	15,361
	10 20 30 40 50 60 MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH LSPSHHSGSK 70 80 90 100 110 120 AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT LHGHWLECNG AILARHDLGS 130 140 ARSQLTATSA FRVQAILLPQ PPK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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.
[2]	"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].
[3]	"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. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"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).
[5]	"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).
[6]	"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. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	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. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"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.
[9]	"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].
[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.
[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.
[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.
[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.
[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.
[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.
[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.
[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.
[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. , Walz M.K., Hoang-Vu C., Brauckhoff M., Klein-Franke A., Klose P., Schmidt H., Maier-Woelfle M., Peczkowska M., Szmigielski C., Eng C. N. Engl. J. Med. 346:1459-1466(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PHEOCHROMOCYTOMA TYR-92.
[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.
[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.
[21]	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)
[22]	"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.
[23]	"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.
[24]	"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.
[25]	"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. , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K. Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-12.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Wikipedia

SDHD entry

TCA Cycle Gene Mutation Database

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
CCDS	CCDS31678.1.
RefSeq	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]
UniGene	Hs.356270. Hs.744039.
3D structure databases
ProteinModelPortal	O14521.
SMR	O14521. Positions 59-159.
ModBase	Search...
MobiDB	Search...
Protein-protein interaction databases
BioGrid	112293. 1 interaction.
STRING	9606.ENSP00000364699.
Chemistry
DrugBank	DB00139. Succinic acid.
Proteomic databases
MaxQB	O14521.
PaxDb	O14521.
PRIDE	O14521.
Protocols and materials databases
DNASU	6392.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000375549; ENSP00000364699; ENSG00000204370. ENST00000525291; ENSP00000436669; ENSG00000204370. ENST00000526592; ENSP00000432005; ENSG00000204370. ENST00000528048; ENSP00000436217; ENSG00000204370.
GeneID	6392.
KEGG	hsa:6392.
UCSC	uc001pmz.4. human. [O14521-1]
Organism-specific databases
CTD	6392.
GeneCards	GC11P111991.
GeneReviews	SDHD.
H-InvDB	HIX0029526.
HGNC	HGNC:10683. SDHD.
HPA	HPA045727.
MIM	114900. phenotype. 168000. phenotype. 171300. phenotype. 602690. gene. 606864. phenotype. 615106. phenotype.
neXtProt	NX_O14521.
Orphanet	100093. Carcinoid tumor and carcinoid syndrome. 97286. Carney-Stratakis syndrome. 201. Cowden syndrome. 29072. Hereditary pheochromocytoma-paraganglioma. 3208. Isolated succinate-CoQ reductase deficiency.
PharmGKB	PA35608.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG264646.
HOGENOM	HOG000290645.
HOVERGEN	HBG003003.
InParanoid	O14521.
KO	K00237.
OMA	HTGFGNI.
PhylomeDB	O14521.
TreeFam	TF313310.
Enzyme and pathway databases
BioCyc	MetaCyc:ENSG00000150781-MONOMER.
Reactome	REACT_111217. Metabolism.
UniPathway	UPA00223.
Gene expression databases
ArrayExpress	O14521.
Bgee	O14521.
CleanEx	HS_SDHD.
Genevestigator	O14521.
Family and domain databases
InterPro	IPR007992. CybS. [Graphical view]
PANTHER	PTHR13337. PTHR13337. 1 hit.
Pfam	PF05328. CybS. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SDHD. human.
GeneWiki	SDHD.
GenomeRNAi	6392.
NextBio	24838.
PRO	O14521.
SOURCE	Search...

Entry information

Entry name

DHSD_HUMAN

Accession

Primary (citable) accession number: O14521
Secondary accession number(s): A6ND90 , B3KQQ8, E9PIC0, E9PIG3, E9PQI9, Q53XW5, Q6IRW2

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	January 1, 1998
Last modified:	July 9, 2014
This is version 156 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.