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Homo sapiens succinate dehydrogenase complex, subunit B, iron sulfur (Ip) (SDHB), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_003000 Homo sapiens succinate dehydrogenase complex, subunit B, iron sulfur (Ip) (SDHB), nuclear gene encoding mitochondrial protein, mRNA. Full Lenth $336.69
ORF Sequence $244.47


RefSeq Version NM_003000.2, 115387093
Length 1161 bp
Structure linear
Update Date 17-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens succinate dehydrogenase complex, subunit B, iron sulfur (Ip) (SDHB), nuclear gene encoding mitochondrial protein, mRNA.
Product succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial precursor
Comment

Summary: Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq].

RefSeq NP_002991.2
CDS 152..994
Exon (1)1..223
Exon (2)1..223
Exon (3)224..351
Exon (4)352..437
Exon (5)438..574
Exon (6)575..691
Exon (7)692..793
Exon (8)794..916
Exon (9)917..1153
Translation MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQT YEVDLNKCGPMVLDALIKIKNEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTN LNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEEREKL DGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSL YRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV
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Position Chain Variation Link
complement(13)-c, adbSNP:114522228
complement(35..36)-, cdbSNP:34633163
146+a, gdbSNP:2295056
complement(159)-g, cdbSNP:11203289
169+a, cdbSNP:2746462
complement(183)-t, cdbSNP:111430410
230+c, tdbSNP:74315369
287+c, gdbSNP:74315370
complement(309)-t, cdbSNP:34916635
complement(321)-t, cdbSNP:35962811
complement(329)-t, cdbSNP:34599281
complement(415)-g, cdbSNP:41310416
419+c, tdbSNP:74315366
453+a, gdbSNP:74315371
507+c, tdbSNP:11541234
546+a, cdbSNP:74315372
638+c, tdbSNP:33927012
741+c, gdbSNP:74315367
876+a, gdbSNP:74315368
complement(912)-, gdbSNP:34309090
complement(1113..1114)-, adbSNP:35417465
complement(1127)-g, adbSNP:111686611
complement(1153)-t, cdbSNP:75557632
Gene SymbolSDHB
Gene SynonymFLJ92337; IP; PGL4; SDH; SDH1; SDH2; SDHIP
Chromosome1
Locus Map1p36.1-p35
All Transcripts NM_003000
Title Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations .
Author Janeway,K.A., Kim,S.Y., Lodish,M., Nose,V., Rustin,P., Gaal,J., Dahia,P.L., Liegl,B., Ball,E.R., Raygada,M., Lai,A.H., Kelly,L., Hornick,J.L., O'Sullivan,M., de Krijger,R.R., Dinjens,W.N., Demetri,G.D., Antonescu,C.R., Fletcher,J.A., Helman,L. and Stratakis,C.A.
Journal Proc. Natl. Acad. Sci. U.S.A. 108 (1), 314-318 (2011)
Title SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors .
Author Gaal,J., Stratakis,C.A., Carney,J.A., Ball,E.R., Korpershoek,E., Lodish,M.B., Levy,I., Xekouki,P., van Nederveen,F.H., den Bakker,M.A., O'Sullivan,M., Dinjens,W.N. and de Krijger,R.R.
Journal Mod. Pathol. 24 (1), 147-151 (2011)
Title Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas .
Author Lopez-Jimenez,E., Gomez-Lopez,G., Leandro-Garcia,L.J., Munoz,I., Schiavi,F., Montero-Conde,C., de Cubas,A.A., Ramires,R., Landa,I., Leskela,S., Maliszewska,A., Inglada-Perez,L., de la Vega,L., Rodriguez-Antona,C., Leton,R., Bernal,C., de Campos,J.M., Diez-Tascon,C., Fraga,M.F., Boullosa,C., Pisano,D.G., Opocher,G., Robledo,M. and Cascon,A.
Journal Mol. Endocrinol. 24 (12), 2382-2391 (2010)
Title SDHB loss predicts malignancy in pheochromocytomas/sympathethic paragangliomas, but not through hypoxia signalling .
Author Blank,A., Schmitt,A.M., Korpershoek,E., van Nederveen,F., Rudolph,T., Weber,N., Strebel,R.T., de Krijger,R., Komminoth,P. and Perren,A.
Journal Endocr. Relat. Cancer 17 (4), 919-928 (2010)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma .
Author Astuti,D., Latif,F., Dallol,A., Dahia,P.L., Douglas,F., George,E., Skoldberg,F., Husebye,E.S., Eng,C. and Maher,E.R.
Journal Am. J. Hum. Genet. 69 (1), 49-54 (2001)
Title Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase .
Author Au,H.C., Ream-Robinson,D., Bellew,L.A., Broomfield,P.L., Saghbini,M. and Scheffler,I.E.
Journal Gene 159 (2), 249-253 (1995)
Title Identification of a novel human zinc finger protein that specifically interacts with the activation domain of lentiviral Tat proteins .
Author Fridell,R.A., Harding,L.S., Bogerd,H.P. and Cullen,B.R.
Journal Virology 209 (2), 347-357 (1995)
Title Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria .
Author Kita,K., Oya,H., Gennis,R.B., Ackrell,B.A. and Kasahara,M.
Journal Biochem. Biophys. Res. Commun. 166 (1), 101-108 (1990)
Title Use of the DNA polymerase chain reaction for homology probing: isolation of partial cDNA or genomic clones encoding the iron-sulfur protein of succinate dehydrogenase from several species .
Author Gould,S.J., Subramani,S. and Scheffler,I.E.
Journal Proc. Natl. Acad. Sci. U.S.A. 86 (6), 1934-1938 (1989)

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