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O14521 (DHSD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 153. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length159 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 processElectron transport
Transport
Tricarboxylic acid cycle
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransit peptide
Transmembrane
Transmembrane helix
   LigandHeme
Iron
Metal-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular 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_componentintegral 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_functionelectron 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...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 5656Mitochondrion Potential
Chain57 – 159103Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
PRO_0000006487

Regions

Topological domain57 – 637Mitochondrial matrix By similarity
Transmembrane64 – 8522Helical; By similarity
Topological domain86 – 905Mitochondrial intermembrane By similarity
Transmembrane91 – 11121Helical; By similarity
Topological domain112 – 1209Mitochondrial matrix By similarity
Transmembrane121 – 14222Helical; By similarity
Topological domain143 – 15917Mitochondrial intermembrane By similarity

Sites

Metal binding1021Iron (heme axial ligand); shared with SDHC By similarity
Binding site1141Ubiquinone; shared with IP/SDHB By similarity

Natural variations

Natural variant121G → 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 variant501H → R Polymorphism that may increase susceptibility for developing paraganglioma, breast and tyroid 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 variant811P → L in PGL1 and pheochromocytoma. Ref.10 Ref.11 Ref.20
VAR_010038
Natural variant921D → Y in PGL1 and pheochromocytoma. Ref.11 Ref.14 Ref.18 Ref.20
VAR_010039
Natural variant931Missing in PGL1. Ref.13
VAR_018519
Natural variant1021H → L in PGL1. Ref.11
VAR_010040
Natural variant1141Y → C in PGL1. Ref.12 Ref.20
VAR_017872
Natural variant1391L → P in PGL1. Ref.14
VAR_017873
Natural variant1451H → 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 variant1481G → V in PGL1. Ref.20
VAR_054385

Experimental info

Sequence conflict741V → F in AAH70307. Ref.8

Sequences

Sequence LengthMass (Da)Tools
O14521 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 6B1AA94831C8C3B6

FASTA15917,043
        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 

« Hide

References

« Hide '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].
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. expand/collapse author list , 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].
[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].
[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].
[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. expand/collapse author list , 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. expand/collapse author list , 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].
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. expand/collapse author list , 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. expand/collapse author list , 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.

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.
RefSeqNP_001263432.1. NM_001276503.1.
NP_001263433.1. NM_001276504.1.
NP_001263435.1. NM_001276506.1.
NP_002993.1. NM_003002.3.
UniGeneHs.356270.
Hs.744039.

3D structure databases

ProteinModelPortalO14521.
SMRO14521. Positions 59-159.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112293. 1 interaction.
STRING9606.ENSP00000364699.

Chemistry

DrugBankDB00139. Succinic acid.

Proteomic databases

PaxDbO14521.
PRIDEO14521.

Protocols and materials databases

DNASU6392.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375549; ENSP00000364699; ENSG00000204370.
GeneID6392.
KEGGhsa:6392.
UCSCuc001pmz.4. human.

Organism-specific databases

CTD6392.
GeneCardsGC11P111991.
H-InvDBHIX0029526.
HGNCHGNC:10683. SDHD.
HPAHPA045727.
MIM114900. phenotype.
168000. phenotype.
171300. phenotype.
602690. gene.
606864. phenotype.
615106. phenotype.
neXtProtNX_O14521.
Orphanet100093. Carcinoid tumor and carcinoid syndrome.
97286. Carney-Stratakis syndrome.
201. Cowden syndrome.
29072. Hereditary pheochromocytoma-paraganglioma.
PharmGKBPA35608.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG264646.
HOGENOMHOG000290645.
HOVERGENHBG003003.
InParanoidO14521.
KOK00237.
OMAGTQHIHL.
PhylomeDBO14521.
TreeFamTF313310.

Enzyme and pathway databases

BioCycMetaCyc:ENSG00000150781-MONOMER.
ReactomeREACT_111217. Metabolism.
UniPathwayUPA00223.

Gene expression databases

ArrayExpressO14521.
BgeeO14521.
CleanExHS_SDHD.
GenevestigatorO14521.

Family and domain databases

InterProIPR007992. CybS.
[Graphical view]
PANTHERPTHR13337. PTHR13337. 1 hit.
PfamPF05328. CybS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSDHD. human.
GeneWikiSDHD.
GenomeRNAi6392.
NextBio24838.
PROO14521.
SOURCESearch...

Entry information

Entry nameDHSD_HUMAN
AccessionPrimary (citable) accession number: O14521
Secondary accession number(s): A6ND90 expand/collapse secondary AC list , B3KQQ8, Q53XW5, Q6IRW2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 153 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM