ID DHSD_HUMAN Reviewed; 159 AA. AC O14521; A6ND90; B3KQQ8; E9PIC0; E9PIG3; E9PQI9; Q53XW5; Q6IRW2; DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot. DT 01-JAN-1998, sequence version 1. DT 27-MAR-2024, entry version 223. DE RecName: Full=Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial; DE Short=CybS; DE AltName: Full=CII-4; DE AltName: Full=QPs3; DE AltName: Full=Succinate dehydrogenase complex subunit D; DE AltName: Full=Succinate-ubiquinone oxidoreductase cytochrome b small subunit; DE AltName: Full=Succinate-ubiquinone reductase membrane anchor subunit; DE Flags: Precursor; GN Name=SDHD; Synonyms=SDH4; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Liver; RX PubMed=9533030; DOI=10.1159/000134700; RA Hirawake H., Taniwaki M., Tamura A., Kojima S., Kita K.; RT "Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): RT cDNA cloning of the components in liver mitochondria and chromosome RT assignment of the genes for the large (SDHC) and small (SDHD) subunits to RT 1q21 and 11q23."; RL Cytogenet. Cell Genet. 79:132-138(1997). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=10482792; DOI=10.1016/s0005-2728(99)00071-7; RA Hirawake H., Taniwaki M., Tamura A., Amino H., Tomitsuka E., Kita K.; RT "Characterization of the human SDHD gene encoding the small subunit of RT cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase."; RL Biochim. Biophys. Acta 1412:295-300(1999). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RX PubMed=16303743; DOI=10.1093/dnares/12.2.117; RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y., RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., RA Isogai T.; RT "Signal sequence and keyword trap in silico for selection of full-length RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA RT libraries."; RL DNA Res. 12:117-126(2005). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., RA Phelan M., Farmer A.; RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."; RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.; RT "Cloning of human full open reading frames in Gateway(TM) system entry RT vector (pDONR201)."; RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16554811; DOI=10.1038/nature04632; RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G., RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., RA Hattori M., Rogers J., Lander E.S., Sakaki Y.; RT "Human chromosome 11 DNA sequence and analysis including novel gene RT identification."; RL Nature 440:497-500(2006). RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [8] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Bone marrow, Brain, Lung, and Skeletal muscle; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [9] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21269460; DOI=10.1186/1752-0509-5-17; RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., RA Bennett K.L., Superti-Furga G., Colinge J.; RT "Initial characterization of the human central proteome."; RL BMC Syst. Biol. 5:17-17(2011). RN [10] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Liver; RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014; RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., RA Ye M., Zou H.; RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver RT phosphoproteome."; RL J. Proteomics 96:253-262(2014). RN [11] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=25944712; DOI=10.1002/pmic.201400617; RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D., RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.; RT "N-terminome analysis of the human mitochondrial proteome."; RL Proteomics 15:2519-2524(2015). RN [12] RP VARIANT PPGL1 LEU-81. RX PubMed=11156372; RA Gimm O., Armanios M., Dziema H., Neumann H.P.H., Eng C.; RT "Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II RT gene, in nonfamilial pheochromocytoma."; RL Cancer Res. 60:6822-6825(2000). RN [13] RP VARIANTS PPGL1 LEU-81; TYR-92 AND LEU-102. RX PubMed=10657297; DOI=10.1126/science.287.5454.848; RA Baysal B.E., Ferrell R.E., Willett-Brozick J.E., Lawrence E.C., RA Myssiorek D., Bosch A., van der Mey A., Taschner P.E.M., Rubinstein W.S., RA Myers E.N., Richard C.W. III, Cornelisse C.J., Devilee P., Devlin B.; RT "Mutations in SDHD, a mitochondrial complex II gene, in hereditary RT paraganglioma."; RL Science 287:848-851(2000). RN [14] RP VARIANT PPGL1 CYS-114. RX PubMed=11343322; DOI=10.1002/ajmg.1270; RA Milunsky J.M., Maher T.A., Michels V.V., Milunsky A.; RT "Novel mutations and the emergence of a common mutation in the SDHD gene RT causing familial paraganglioma."; RL Am. J. Med. Genet. 100:311-314(2001). RN [15] RP VARIANT PPGL1 TYR-93 DEL. RX PubMed=11391796; DOI=10.1002/gcc.1142; RA Badenhop R.F., Cherian S., Lord R.S.A., Baysal B.E., Taschner P.E.M., RA Schofield P.R.; RT "Novel mutations in the SDHD gene in pedigrees with familial carotid body RT paraganglioma and sensorineural hearing loss."; RL Genes Chromosomes Cancer 31:255-263(2001). RN [16] RP VARIANTS PPGL1 TYR-92 AND PRO-139. RX PubMed=11391798; DOI=10.1002/gcc.1144; RA Taschner P.E.M., Jansen J.C., Baysal B.E., Bosch A., Rosenberg E.H., RA Broecker-Vriends A.H.J.T., van Der Mey A.G.L., van Ommen G.-J.B., RA Cornelisse C.J., Devilee P.; RT "Nearly all hereditary paragangliomas in the Netherlands are caused by two RT founder mutations in the SDHD gene."; RL Genes Chromosomes Cancer 31:274-281(2001). RN [17] RP VARIANT SER-12. RX PubMed=11526495; DOI=10.1038/sj.onc.1204579; RA Masuoka J., Brandner S., Paulus W., Soffer D., Vital A., Chimelli L., RA Jouvet A., Yonekawa Y., Kleihues P., Ohgaki H.; RT "Germline SDHD mutation in paraganglioma of the spinal cord."; RL Oncogene 20:5084-5086(2001). RN [18] RP VARIANTS SER-12 AND ARG-50. RX PubMed=12007193; DOI=10.1002/gcc.10081; RA Kytoelae S., Nord B., Elder E.E., Carling T., Kjellman M., Cedermark B., RA Juhlin C., Hoeoeg A., Isola J., Larsson C.; RT "Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell RT carcinomas, pheochromocytomas, and abdominal paragangliomas."; RL Genes Chromosomes Cancer 34:325-332(2002). RN [19] RP VARIANTS SER-12 AND ARG-50. RX PubMed=14500403; RA Gimenez-Roqueplo A.-P., Favier J., Rustin P., Rieubland C., Crespin M., RA Nau V., Khau Van Kien P., Corvol P., Plouin P.-F., Jeunemaitre X.; RT "Mutations in the SDHB gene are associated with extra-adrenal and/or RT malignant phaeochromocytomas."; RL Cancer Res. 63:5615-5621(2003). RN [20] RP VARIANT PPGL1 TYR-92. RX PubMed=12000816; DOI=10.1056/nejmoa020152; RG The Freiburg-Warsaw-Columbus pheochromocytoma study group; RA Neumann H.P.H., Bausch B., McWhinney S.R., Bender B.U., Gimm O., Franke G., RA Schipper J., Klisch J., Altehoefer C., Zerres K., Januszewicz A., RA Smith W.M., Munk R., Manz T., Glaesker S., Apel T.W., Treier M., RA Reineke M., Walz M.K., Hoang-Vu C., Brauckhoff M., Klein-Franke A., RA Klose P., Schmidt H., Maier-Woelfle M., Peczkowska M., Szmigielski C., RA Eng C.; RT "Germ-line mutations in nonsyndromic pheochromocytoma."; RL N. Engl. J. Med. 346:1459-1466(2002). RN [21] RP DISCUSSION OF PATHOGENIC ROLE OF VARIANTS SER-12 AND ARG-50. RX PubMed=12696072; DOI=10.1002/gcc.10212; RA Cascon A., Ruiz-Llorente S., Cebrian A., Leton R., Telleria D., Benitez J., RA Robledo M.; RT "G12S and H50R variations are polymorphisms in the SDHD gene."; RL Genes Chromosomes Cancer 37:220-221(2003). RN [22] RP VARIANTS PPGL1 LEU-81; TYR-92; CYS-114 AND VAL-148. RX PubMed=15328326; DOI=10.1001/jama.292.8.943; RA Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., RA Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., RA Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C.; RT "Distinct clinical features of paraganglioma syndromes associated with SDHB RT and SDHD gene mutations."; RL JAMA 292:943-951(2004). RN [23] RP ERRATUM OF PUBMED:15328326. RA Neumann H.P.H., Pawlu C., Peczkowska M., Bausch B., McWhinney S.R., RA Muresan M., Buchta M., Franke G., Klisch J., Bley T.A., Hoegerle S., RA Boedeker C.C., Opocher G., Schipper J., Januszewicz A., Eng C.; RL JAMA 292:1686-1686(2004). RN [24] RP VARIANT SER-12. RX PubMed=15032977; DOI=10.1111/j.2004.00174.x; RA Leube B., Huber R., Goecke T.O., Sandmann W., Royer-Pokora B.; RT "SDHD mutation analysis in seven German patients with sporadic carotid body RT paraganglioma: one novel mutation, no Dutch founder mutation and further RT evidence that G12S is a polymorphism."; RL Clin. Genet. 65:61-63(2004). RN [25] RP INVOLVEMENT IN PGGSS. RX PubMed=17804857; DOI=10.1056/nejmc071191; RA McWhinney S.R., Pasini B., Stratakis C.A.; RT "Familial gastrointestinal stromal tumors and germ-line mutations."; RL N. Engl. J. Med. 357:1054-1056(2007). RN [26] RP VARIANTS SER-12; ARG-50 AND ASN-145, AND CHARACTERIZATION OF VARIANTS RP SER-12; ARG-50 AND ASN-145. RX PubMed=18678321; DOI=10.1016/j.ajhg.2008.07.011; RA Ni Y., Zbuk K.M., Sadler T., Patocs A., Lobo G., Edelman E., Platzer P., RA Orloff M.S., Waite K.A., Eng C.; RT "Germline mutations and variants in the succinate dehydrogenase genes in RT Cowden and Cowden-like syndromes."; RL Am. J. Hum. Genet. 83:261-268(2008). RN [27] RP VARIANT [LARGE SCALE ANALYSIS] SER-12. RX PubMed=18987736; DOI=10.1038/nature07485; RA Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., RA Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., RA Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., RA Abbott S., Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., RA Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., RA Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., RA Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., RA Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., RA DiPersio J.F., Wilson R.K.; RT "DNA sequencing of a cytogenetically normal acute myeloid leukaemia RT genome."; RL Nature 456:66-72(2008). RN [28] RP VARIANT MC2DN3 LYS-69, CHARACTERIZATION OF VARIANT MC2DN3 LYS-69, AND RP INVOLVEMENT IN MC2DN3. RX PubMed=24367056; DOI=10.1136/jmedgenet-2013-101932; RA Jackson C.B., Nuoffer J.M., Hahn D., Prokisch H., Haberberger B., RA Gautschi M., Haeberli A., Gallati S., Schaller A.; RT "Mutations in SDHD lead to autosomal recessive encephalomyopathy and RT isolated mitochondrial complex II deficiency."; RL J. Med. Genet. 51:170-175(2014). RN [29] RP VARIANT MC2DN3 GLY-92, INVOLVEMENT IN MC2DN3, AND CHARACTERIZATION OF RP VARIANT MC2DN3 GLY-92. RX PubMed=26008905; DOI=10.1007/s00439-015-1568-z; RA Alston C.L., Ceccatelli Berti C., Blakely E.L., Olahova M., He L., RA McMahon C.J., Olpin S.E., Hargreaves I.P., Nolli C., McFarland R., RA Goffrini P., O'Sullivan M.J., Taylor R.W.; RT "A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal RT cardiomyopathy and a severe mitochondrial complex II deficiency."; RL Hum. Genet. 134:869-879(2015). CC -!- FUNCTION: Membrane-anchoring subunit of succinate dehydrogenase (SDH) CC that is involved in complex II of the mitochondrial electron transport CC chain and is responsible for transferring electrons from succinate to CC ubiquinone (coenzyme Q). {ECO:0000250}. CC -!- PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle. CC -!- SUBUNIT: Component of complex II composed of four subunits: the CC flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome CC b560 composed of SDHC and SDHD. CC -!- INTERACTION: CC O14521; Q6NTF9-3: RHBDD2; NbExp=3; IntAct=EBI-1224553, EBI-17589229; CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane CC protein. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=4; CC Name=1; CC IsoId=O14521-1; Sequence=Displayed; CC Name=2; CC IsoId=O14521-2; Sequence=VSP_054744; CC Name=3; CC IsoId=O14521-3; Sequence=VSP_054745; CC Name=4; CC IsoId=O14521-4; Sequence=VSP_054746, VSP_054747; CC -!- DISEASE: Pheochromocytoma/paraganglioma syndrome 1 (PPGL1) CC [MIM:168000]: A form of pheochromocytoma/paraganglioma syndrome, a CC tumor predisposition syndrome characterized by the development of CC neuroendocrine tumors, usually in adulthood. Pheochromocytomas are CC catecholamine-producing tumors that arise from chromaffin cells in the CC adrenal medulla. Paragangliomas develop from sympathetic paraganglia in CC the thorax, abdomen, and pelvis, as well as from parasympathetic CC paraganglia in the head and neck. PPGL1 inheritance is autosomal CC dominant. {ECO:0000269|PubMed:10657297, ECO:0000269|PubMed:11156372, CC ECO:0000269|PubMed:11343322, ECO:0000269|PubMed:11391796, CC ECO:0000269|PubMed:11391798, ECO:0000269|PubMed:12000816, CC ECO:0000269|PubMed:15328326}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Paraganglioma and gastric stromal sarcoma (PGGSS) CC [MIM:606864]: Gastrointestinal stromal tumors may be sporadic or CC inherited in an autosomal dominant manner, alone or as a component of a CC syndrome associated with other tumors, such as in the context of CC neurofibromatosis type 1 (NF1). Patients have both gastrointestinal CC stromal tumors and paragangliomas. Susceptibility to the tumors was CC inherited in an apparently autosomal dominant manner, with incomplete CC penetrance. {ECO:0000269|PubMed:17804857}. Note=The disease is caused CC by variants affecting the gene represented in this entry. CC -!- DISEASE: Mitochondrial complex II deficiency, nuclear type 3 (MC2DN3) CC [MIM:619167]: A form of mitochondrial complex II deficiency, a disorder CC with heterogeneous clinical manifestations. Some patients have CC multisystem involvement of the brain, heart, muscle, liver, and kidneys CC resulting in death in infancy, whereas others have only isolated CC cardiac or muscle involvement with onset in adulthood and normal CC cognition. Clinical features include psychomotor regression in infants, CC poor growth with lack of speech development, severe spastic CC quadriplegia, dystonia, progressive leukoencephalopathy, muscle CC weakness, exercise intolerance, cardiomyopathy. Some patients manifest CC Leigh syndrome or Kearns-Sayre syndrome. MC2DN3 inheritance is CC autosomal recessive. {ECO:0000269|PubMed:24367056, CC ECO:0000269|PubMed:26008905}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the CybS family. {ECO:0000305}. CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and CC Haematology; CC URL="https://atlasgeneticsoncology.org/gene/390/SDHD"; CC -!- WEB RESOURCE: Name=Wikipedia; Note=SDHD entry; CC URL="https://en.wikipedia.org/wiki/SDHD"; CC -!- WEB RESOURCE: Name=TCA Cycle Gene Mutation Database; CC URL="https://databases.lovd.nl/shared/genes/SDHD"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AB006202; BAA22054.1; -; mRNA. DR EMBL; AB026906; BAA81889.1; -; Genomic_DNA. DR EMBL; AK075360; BAG52120.1; -; mRNA. DR EMBL; BT007238; AAP35902.1; -; mRNA. DR EMBL; CR456932; CAG33213.1; -; mRNA. DR EMBL; AP002007; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471065; EAW67181.1; -; Genomic_DNA. DR EMBL; BC005263; AAH05263.1; -; mRNA. DR EMBL; BC009574; AAH09574.1; -; mRNA. DR EMBL; BC012603; AAH12603.1; -; mRNA. DR EMBL; BC015188; AAH15188.1; -; mRNA. DR EMBL; BC015992; AAH15992.1; -; mRNA. DR EMBL; BC022350; AAH22350.1; -; mRNA. DR EMBL; BC070307; AAH70307.1; -; mRNA. DR EMBL; BC071755; AAH71755.1; -; mRNA. DR EMBL; BC071756; AAH71756.1; -; mRNA. DR CCDS; CCDS31678.1; -. [O14521-1] DR CCDS; CCDS60958.1; -. [O14521-4] DR CCDS; CCDS60959.1; -. [O14521-3] DR CCDS; CCDS60960.1; -. [O14521-2] DR RefSeq; NP_001263432.1; NM_001276503.1. [O14521-3] DR RefSeq; NP_001263433.1; NM_001276504.1. [O14521-2] DR RefSeq; NP_001263435.1; NM_001276506.1. [O14521-4] DR RefSeq; NP_002993.1; NM_003002.3. [O14521-1] DR PDB; 8GS8; EM; 2.86 A; D=1-159. DR PDBsum; 8GS8; -. DR AlphaFoldDB; O14521; -. DR EMDB; EMD-34225; -. DR SMR; O14521; -. DR BioGRID; 112293; 29. DR ComplexPortal; CPX-561; Mitochondrial respiratory chain complex II. DR IntAct; O14521; 6. DR MINT; O14521; -. DR STRING; 9606.ENSP00000364699; -. DR DrugBank; DB04141; 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol. DR DrugBank; DB00756; Hexachlorophene. DR DrugBank; DB08689; Ubiquinone Q1. DR TCDB; 3.D.10.1.7; the prokaryotic succinate dehydrogenase (sdh) family. DR GlyGen; O14521; 1 site, 1 O-linked glycan (1 site). DR SwissPalm; O14521; -. DR BioMuta; SDHD; -. DR EPD; O14521; -. DR jPOST; O14521; -. DR MassIVE; O14521; -. DR MaxQB; O14521; -. DR PaxDb; 9606-ENSP00000364699; -. DR PeptideAtlas; O14521; -. DR ProteomicsDB; 20759; -. DR ProteomicsDB; 20802; -. DR ProteomicsDB; 48064; -. [O14521-1] DR Pumba; O14521; -. DR TopDownProteomics; O14521-1; -. [O14521-1] DR Antibodypedia; 32123; 149 antibodies from 29 providers. DR DNASU; 6392; -. DR Ensembl; ENST00000375549.8; ENSP00000364699.3; ENSG00000204370.13. [O14521-1] DR Ensembl; ENST00000525291.5; ENSP00000436669.1; ENSG00000204370.13. [O14521-2] DR Ensembl; ENST00000526592.5; ENSP00000432005.1; ENSG00000204370.13. [O14521-4] DR Ensembl; ENST00000528048.5; ENSP00000436217.1; ENSG00000204370.13. [O14521-3] DR GeneID; 6392; -. DR KEGG; hsa:6392; -. DR MANE-Select; ENST00000375549.8; ENSP00000364699.3; NM_003002.4; NP_002993.1. DR UCSC; uc001pmz.5; human. [O14521-1] DR AGR; HGNC:10683; -. DR CTD; 6392; -. DR DisGeNET; 6392; -. DR GeneCards; SDHD; -. DR GeneReviews; SDHD; -. DR HGNC; HGNC:10683; SDHD. DR HPA; ENSG00000204370; Low tissue specificity. DR MalaCards; SDHD; -. DR MIM; 168000; phenotype. DR MIM; 602690; gene. DR MIM; 606864; phenotype. DR MIM; 619167; phenotype. DR neXtProt; NX_O14521; -. DR OpenTargets; ENSG00000204370; -. DR Orphanet; 100093; Carcinoid syndrome. DR Orphanet; 97286; Carney-Stratakis syndrome. DR Orphanet; 201; Cowden syndrome. DR Orphanet; 29072; Hereditary pheochromocytoma-paraganglioma. DR Orphanet; 3208; Isolated succinate-CoQ reductase deficiency. DR Orphanet; 276621; Sporadic pheochromocytoma/secreting paraganglioma. DR PharmGKB; PA35608; -. DR VEuPathDB; HostDB:ENSG00000204370; -. DR eggNOG; KOG4097; Eukaryota. DR GeneTree; ENSGT00390000010003; -. DR HOGENOM; CLU_2512011_0_0_1; -. DR InParanoid; O14521; -. DR OMA; YMLTARI; -. DR OrthoDB; 2782446at2759; -. DR PhylomeDB; O14521; -. DR TreeFam; TF313310; -. DR BioCyc; MetaCyc:ENSG00000150781-MONOMER; -. DR PathwayCommons; O14521; -. DR Reactome; R-HSA-611105; Respiratory electron transport. DR Reactome; R-HSA-71403; Citric acid cycle (TCA cycle). DR SignaLink; O14521; -. DR SIGNOR; O14521; -. DR UniPathway; UPA00223; -. DR BioGRID-ORCS; 6392; 521 hits in 1170 CRISPR screens. DR ChiTaRS; SDHD; human. DR GeneWiki; SDHD; -. DR GenomeRNAi; 6392; -. DR Pharos; O14521; Tbio. DR PRO; PR:O14521; -. DR Proteomes; UP000005640; Chromosome 11. DR RNAct; O14521; Protein. DR Bgee; ENSG00000204370; Expressed in jejunal mucosa and 203 other cell types or tissues. DR ExpressionAtlas; O14521; baseline and differential. DR GO; GO:0005740; C:mitochondrial envelope; TAS:ProtInc. DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB. DR GO; GO:0005749; C:mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone); ISS:UniProtKB. DR GO; GO:0005739; C:mitochondrion; TAS:ProtInc. DR GO; GO:0009055; F:electron transfer activity; TAS:UniProtKB. DR GO; GO:0020037; F:heme binding; ISS:UniProtKB. DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW. DR GO; GO:0008177; F:succinate dehydrogenase (ubiquinone) activity; IEA:Ensembl. DR GO; GO:0048039; F:ubiquinone binding; ISS:UniProtKB. DR GO; GO:0071456; P:cellular response to hypoxia; IEA:Ensembl. DR GO; GO:0006121; P:mitochondrial electron transport, succinate to ubiquinone; IBA:GO_Central. DR GO; GO:0042776; P:proton motive force-driven mitochondrial ATP synthesis; NAS:ComplexPortal. DR GO; GO:0050433; P:regulation of catecholamine secretion; IEA:Ensembl. DR GO; GO:0006099; P:tricarboxylic acid cycle; IDA:UniProtKB. DR CDD; cd03496; SQR_TypeC_CybS; 1. DR Gene3D; 1.20.1300.10; Fumarate reductase/succinate dehydrogenase, transmembrane subunit; 1. DR InterPro; IPR007992; CybS. DR InterPro; IPR034804; SQR/QFR_C/D. DR PANTHER; PTHR13337; SUCCINATE DEHYDROGENASE; 1. DR PANTHER; PTHR13337:SF6; SUCCINATE DEHYDROGENASE [UBIQUINONE] CYTOCHROME B SMALL SUBUNIT, MITOCHONDRIAL; 1. DR Pfam; PF05328; CybS; 1. DR SUPFAM; SSF81343; Fumarate reductase respiratory complex transmembrane subunits; 1. DR Genevisible; O14521; HS. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; Disease variant; Electron transport; KW Heme; Iron; Membrane; Metal-binding; Mitochondrion; KW Mitochondrion inner membrane; Primary mitochondrial disease; KW Reference proteome; Transit peptide; Transmembrane; Transmembrane helix; KW Transport; Tricarboxylic acid cycle. FT TRANSIT 1..56 FT /note="Mitochondrion" FT /evidence="ECO:0000255" FT CHAIN 57..159 FT /note="Succinate dehydrogenase [ubiquinone] cytochrome b FT small subunit, mitochondrial" FT /id="PRO_0000006487" FT TOPO_DOM 57..63 FT /note="Mitochondrial matrix" FT /evidence="ECO:0000250" FT TRANSMEM 64..85 FT /note="Helical" FT /evidence="ECO:0000250" FT TOPO_DOM 86..90 FT /note="Mitochondrial intermembrane" FT /evidence="ECO:0000250" FT TRANSMEM 91..111 FT /note="Helical" FT /evidence="ECO:0000250" FT TOPO_DOM 112..120 FT /note="Mitochondrial matrix" FT /evidence="ECO:0000250" FT TRANSMEM 121..142 FT /note="Helical" FT /evidence="ECO:0000250" FT TOPO_DOM 143..159 FT /note="Mitochondrial intermembrane" FT /evidence="ECO:0000250" FT BINDING 102 FT /ligand="heme b" FT /ligand_id="ChEBI:CHEBI:60344" FT /ligand_note="ligand shared with SDHC" FT /ligand_part="Fe" FT /ligand_part_id="ChEBI:CHEBI:18248" FT /note="axial binding residue" FT /evidence="ECO:0000250|UniProtKB:A5GZW8" FT BINDING 114 FT /ligand="a ubiquinone" FT /ligand_id="ChEBI:CHEBI:16389" FT /ligand_note="ligand shared with IP/SDHB" FT /evidence="ECO:0000250" FT VAR_SEQ 19..57 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_054744" FT VAR_SEQ 56..158 FT /note="HSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGL FT GQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWK -> HWAL FT DKLLLTMFMGMPCRKLPRQGFWHFQ (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_054745" FT VAR_SEQ 106..143 FT /note="GLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFN -> LECNGAILAR FT HDLGSARSQLTATSAFRVQAILLPQPPK (in isoform 4)" FT /evidence="ECO:0000305" FT /id="VSP_054746" FT VAR_SEQ 144..159 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000305" FT /id="VSP_054747" FT VARIANT 12 FT /note="G -> S (probable risk factor for pheochromocytoma, FT paraganglioma, intestinal carcinoid tumor and breast, renal FT and uterus carcinoma; increased manganese superoxide FT dismutase expression and increased reactive oxygen species; FT results in 1.9-fold increase in both AKT and MAPK FT expression; dbSNP:rs34677591)" FT /evidence="ECO:0000269|PubMed:11526495, FT ECO:0000269|PubMed:12007193, ECO:0000269|PubMed:12696072, FT ECO:0000269|PubMed:14500403, ECO:0000269|PubMed:15032977, FT ECO:0000269|PubMed:18678321, ECO:0000269|PubMed:18987736" FT /id="VAR_017870" FT VARIANT 50 FT /note="H -> R (probable risk factor for paraganglioma, FT breast and thyroid carcinoma; may be involved in somatic FT Merkel cell carcinoma; increased manganese superoxide FT dismutase expression and increased reactive oxygen species; FT results in a 2.0-fold increase in AKT expression and a FT 1.7-fold increase in MAPK expression; dbSNP:rs11214077)" FT /evidence="ECO:0000269|PubMed:12007193, FT ECO:0000269|PubMed:12696072, ECO:0000269|PubMed:14500403, FT ECO:0000269|PubMed:18678321" FT /id="VAR_017871" FT VARIANT 69 FT /note="E -> K (in MC2DN3; results in impaired mitochondrial FT complex II assembly; results in impaired cellular FT respiration; dbSNP:rs202198133)" FT /evidence="ECO:0000269|PubMed:24367056" FT /id="VAR_074105" FT VARIANT 81 FT /note="P -> L (in PPGL1; dbSNP:rs80338844)" FT /evidence="ECO:0000269|PubMed:10657297, FT ECO:0000269|PubMed:11156372, ECO:0000269|PubMed:15328326" FT /id="VAR_010038" FT VARIANT 92 FT /note="D -> G (in MC2DN3; results in highly reduced protein FT expression; results in impaired cellular respiration; FT dbSNP:rs786205436)" FT /evidence="ECO:0000269|PubMed:26008905" FT /id="VAR_074106" FT VARIANT 92 FT /note="D -> Y (in PPGL1; dbSNP:rs80338845)" FT /evidence="ECO:0000269|PubMed:10657297, FT ECO:0000269|PubMed:11391798, ECO:0000269|PubMed:12000816, FT ECO:0000269|PubMed:15328326" FT /id="VAR_010039" FT VARIANT 93 FT /note="Missing (in PPGL1; dbSNP:rs121908983)" FT /evidence="ECO:0000269|PubMed:11391796" FT /id="VAR_018519" FT VARIANT 102 FT /note="H -> L (in PPGL1; dbSNP:rs104894302)" FT /evidence="ECO:0000269|PubMed:10657297" FT /id="VAR_010040" FT VARIANT 114 FT /note="Y -> C (in PPGL1; dbSNP:rs104894304)" FT /evidence="ECO:0000269|PubMed:11343322, FT ECO:0000269|PubMed:15328326" FT /id="VAR_017872" FT VARIANT 139 FT /note="L -> P (in PPGL1; dbSNP:rs80338847)" FT /evidence="ECO:0000269|PubMed:11391798" FT /id="VAR_017873" FT VARIANT 145 FT /note="H -> N (found in an individual with features of FT Cowden syndrome; uncertain significance; increased FT manganese superoxide dismutase expression and normal FT reactive oxygen species; no change in AKT expression but a FT 1.2-fold increase of MAPK expression; dbSNP:rs121908984)" FT /evidence="ECO:0000269|PubMed:18678321" FT /id="VAR_054384" FT VARIANT 148 FT /note="G -> V (in PPGL1; dbSNP:rs1555187633)" FT /evidence="ECO:0000269|PubMed:15328326" FT /id="VAR_054385" FT CONFLICT 74 FT /note="V -> F (in Ref. 8; AAH70307)" FT /evidence="ECO:0000305" SQ SEQUENCE 159 AA; 17043 MW; 6B1AA94831C8C3B6 CRC64; MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH LSPSHHSGSK AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT LHGHWGLGQV VTDYVHGDAL QKAAKAGLLA LSALTFAGLC YFNYHDVGIC KAVAMLWKL //