DHSD_HUMAN
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 03-AUG-2022, entry version 214.
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 PHEOCHROMOCYTOMA 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 PGL1 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 PGL1 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 PGL1 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 PGL1 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 PHEOCHROMOCYTOMA 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 PGL1 LEU-81; CYS-114 AND VAL-148, AND VARIANT PHEOCHROMOCYTOMA
RP TYR-92.
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: Paragangliomas 1 (PGL1) [MIM:168000]: A neural crest tumor
CC usually derived from the chromoreceptor tissue of a paraganglion. PGL1
CC is a rare autosomal dominant disorder which is characterized by the
CC development of mostly benign, highly vascular, slowly growing tumors in
CC the head and neck. In the head and neck region, the carotid body is the
CC largest of all paraganglia and is also the most common site of the
CC tumors. {ECO:0000269|PubMed:10657297, ECO:0000269|PubMed:11343322,
CC ECO:0000269|PubMed:11391796, ECO:0000269|PubMed:11391798,
CC ECO:0000269|PubMed:15328326}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing
CC tumor of chromaffin tissue of the adrenal medulla or sympathetic
CC paraganglia. The cardinal symptom, reflecting the increased secretion
CC of epinephrine and norepinephrine, is hypertension, which may be
CC persistent or intermittent. {ECO:0000269|PubMed:11156372,
CC ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:15328326}. Note=Disease
CC susceptibility is associated with variants affecting the gene
CC 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="http://atlasgeneticsoncology.org/Genes/SDHDID390.html";
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";
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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 AlphaFoldDB; O14521; -.
DR SMR; O14521; -.
DR BioGRID; 112293; 26.
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; O14521; -.
DR PeptideAtlas; O14521; -.
DR PRIDE; O14521; -.
DR ProteomicsDB; 20759; -.
DR ProteomicsDB; 20802; -.
DR ProteomicsDB; 48064; -. [O14521-1]
DR TopDownProteomics; O14521-1; -. [O14521-1]
DR Antibodypedia; 32123; 143 antibodies from 28 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 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; 171300; 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; KLERLWA; -.
DR OrthoDB; 507784at2759; -.
DR PhylomeDB; O14521; -.
DR TreeFam; TF313310; -.
DR BioCyc; MetaCyc:ENSG00000150781-MON; -.
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; 510 hits in 1082 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 201 other tissues.
DR ExpressionAtlas; O14521; baseline and differential.
DR Genevisible; O14521; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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; IC: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; -; 1.
DR InterPro; IPR007992; CybS.
DR InterPro; IPR034804; SQR/QFR_C/D.
DR PANTHER; PTHR13337; PTHR13337; 1.
DR SUPFAM; SSF81343; SSF81343; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Electron transport; Heme; Iron;
KW Membrane; Metal-binding; Mitochondrion; Mitochondrion inner membrane;
KW Primary mitochondrial disease; Reference proteome; Transit peptide;
KW Transmembrane; Transmembrane helix; 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 (may increase susceptibility for developing
FT pheochromocytoma, paraganglioma, intestinal carcinoid tumor
FT and breast, renal and uterus carcinoma; associated with
FT increased manganese superoxide dismutase expression;
FT associated with increased reactive oxygen species;
FT associated with 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 (may increase susceptibility for developing
FT paraganglioma, breast and thyroid carcinoma; may be
FT involved in somatic Merkel cell carcinoma; associated with
FT increased manganese superoxide dismutase expression;
FT associated with increased reactive oxygen species;
FT associated with 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 PGL1 and pheochromocytoma;
FT 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 PGL1 and pheochromocytoma;
FT 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 PGL1; dbSNP:rs121908983)"
FT /evidence="ECO:0000269|PubMed:11391796"
FT /id="VAR_018519"
FT VARIANT 102
FT /note="H -> L (in PGL1; dbSNP:rs104894302)"
FT /evidence="ECO:0000269|PubMed:10657297"
FT /id="VAR_010040"
FT VARIANT 114
FT /note="Y -> C (in PGL1; 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 PGL1; 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; unknown pathological significance;
FT associated with increased manganese superoxide dismutase
FT expression; associated with normal reactive oxygen species;
FT associated with no change in AKT expression but a 1.2-fold
FT increase of MAPK expression; dbSNP:rs121908984)"
FT /evidence="ECO:0000269|PubMed:18678321"
FT /id="VAR_054384"
FT VARIANT 148
FT /note="G -> V (in PGL1; 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
