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Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu20819 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu20819C Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_003002.3, 452405284
Length 480 bp
Structure linear
Update Date 04-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 1, mRNA.
Product succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform a precursor
Comment

Summary: This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013].


Transcript Variant: This variant (1) encodes the longest isoform (a).

RefSeq NP_002993.1
CDS 85..564
Misc Feature(1)67..69
Misc Feature(2)262..558
Misc Feature(3)order(262..264,268..273,409..411,418..423,430..432)
Misc Feature(4)274..339
Misc Feature(5)order(292..294,421..426,487..489,496..498,505..507,
Misc Feature(6)order(331..336,544..546,553..555)
Misc Feature(7)355..417
Misc Feature(8)order(388..390,400..402)
Misc Feature(9)424..426
Misc Feature(10)445..510
Exon (1)1..136
Gene:SDHD
Gene Synonym:CBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Exon (2)137..253
Gene:SDHD
Gene Synonym:CBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Exon (3)254..398
Gene:SDHD
Gene Synonym:CBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Exon (4)399..1395
Gene:SDHD
Gene Synonym:CBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Translation MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSK AASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDAL QKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL
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Position Chain Variation Link
30+dbSNP:
30+a, gdbSNP:200665443
35+c, tdbSNP:202003728
38+a, cdbSNP:201097536
50+g, tdbSNP:200063990
60+a, gdbSNP:200704155
65+c, gdbSNP:372894110
66+c, tdbSNP:201382577
73+c, tdbSNP:199955367
77+a, gdbSNP:375890857
85+a, gdbSNP:104894307
87+c, gdbSNP:80338842
98+a, gdbSNP:104894310
100+a, gdbSNP:11547889
102+a, gdbSNP:200895313
108+c, tdbSNP:11550094
117+a, cdbSNP:104894309
118+a, gdbSNP:34677591
135+a, cdbSNP:199890548
137+dbSNP:
137+c, tdbSNP:192332761
148+c, tdbSNP:104894306
164+a, gdbSNP:200671534
178..179+, tcdbSNP:397514034
179+a, cdbSNP:104894305
185+g, tdbSNP:141802836
190+c, tdbSNP:104894303
196+c, tdbSNP:80338843
197+c, gdbSNP:199901239
202+a, cdbSNP:146276662
213+a, gdbSNP:104894308
229+a, gdbSNP:201949108
233+a, gdbSNP:11214077
242+c, tdbSNP:149516118
243+a, gdbSNP:201368675
275..276+dbSNP:
275..276+, tcdbSNP:387906358
288+c, tdbSNP:9919552
289+a, gdbSNP:202198133
302+a, gdbSNP:200486533
312+c, tdbSNP:148634289
326+c, tdbSNP:80338844
331+c, gdbSNP:202239399
332+c, tdbSNP:370165653
339+c, gdbSNP:199517389
353+c, tdbSNP:200255724
358+g, tdbSNP:80338845
361..363+, tatdbSNP:121908983
362+a, gdbSNP:142135772
365+c, tdbSNP:199754684
368+c, tdbSNP:80338846
377+c, tdbSNP:200980609
389+a, tdbSNP:104894302
396+c, tdbSNP:61734352
415+dbSNP:
415+a, gdbSNP:201869798
419+c, tdbSNP:199869408
425+a, gdbSNP:104894304
443+c, tdbSNP:200981457
470+c, tdbSNP:201726097
484+g, tdbSNP:200851392
500+c, tdbSNP:80338847
506+a, gdbSNP:199772639
517+a, cdbSNP:121908984
519+c, tdbSNP:200062830
522+c, tdbSNP:201328474
534+c, tdbSNP:201337439
563+g, tdbSNP:201372601
569+c, tdbSNP:201987672
591+c, tdbSNP:200370142
599+a, tdbSNP:201102587
602+c, gdbSNP:200753574
657+a, tdbSNP:201879236
663+c, tdbSNP:200382250
665+a, gdbSNP:201057710
672+a, gdbSNP:199690207
676+a, gdbSNP:200489396
715+a, gdbSNP:201713939
717+c, tdbSNP:199510706
745+c, tdbSNP:200793705
747+c, tdbSNP:201804464
750+a, gdbSNP:183918321
770+a, gdbSNP:200818209
795+c, tdbSNP:201662641
815+c, gdbSNP:200035181
820+a, gdbSNP:201088390
824+a, tdbSNP:149570245
826+a, gdbSNP:199834076
828+a, tdbSNP:201097338
836+a, gdbSNP:189227241
849+a, tdbSNP:201789478
858+a, gdbSNP:200324825
866+a, gdbSNP:201163059
876+c, gdbSNP:201621566
881+c, tdbSNP:200375590
888+c, tdbSNP:201475331
894+c, tdbSNP:202236414
895+a, gdbSNP:200549621
904+a, gdbSNP:201280702
916+c, gdbSNP:192900956
933+a, gdbSNP:200753024
959+a, cdbSNP:201470807
992+a, gdbSNP:184654032
1005+c, tdbSNP:200798663
1034+c, tdbSNP:201695244
1038+c, tdbSNP:200088980
1056+a, gdbSNP:187116888
1096+a, tdbSNP:146261846
1125+c, tdbSNP:201388681
1126+a, gdbSNP:199954470
1139+c, tdbSNP:200893241
1143+a, gdbSNP:139418464
1149+a, gdbSNP:199841245
1162+a, tdbSNP:201100300
1177+a, gdbSNP:386606035
complement(1177)-g, adbSNP:693441
1186+a, gdbSNP:142510105
1212+a, gdbSNP:201560447
1225+a, gdbSNP:201939906
1227+a, gdbSNP:200264243
1229+a, gdbSNP:201421504
1273+a, gdbSNP:199710271
1311+c, tdbSNP:11214079
1326+a, gdbSNP:191837062
1341+a, tdbSNP:183686123
1367+a, gdbSNP:17113461
1386+c, tdbSNP:201472512
Gene SymbolSDHD
Gene SynonymCBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Chromosome11
Locus Map11q23
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_003002 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_003002 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_003002 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_003002 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 1, mRNA. In-stock $99.00 5-7
Title Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors .
Author Baysal BE.
Journal Biochim. Biophys. Acta 1827 (5), 573-577 (2013)
Title The role of complex II in disease .
Author Hoekstra AS and Bayley JP.
Journal Biochim. Biophys. Acta 1827 (5), 543-551 (2013)
Title Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis .
Author van Hulsteijn LT, Dekkers OM, Hes FJ, Smit JW and Corssmit EP.
Journal J. Med. Genet. 49 (12), 768-776 (2012)
Title Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma .
Author Gimm O, Armanios M, Dziema H, Neumann HP and Eng C.
Journal Cancer Res. 60 (24), 6822-6825 (2000)
Title Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma .
Author Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P and Devlin B.
Journal Science 287 (5454), 848-851 (2000)
Title Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase .
Author Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E and Kita K.
Journal Biochim. Biophys. Acta 1412 (3), 295-300 (1999)
Title 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 .
Author Hirawake H, Taniwaki M, Tamura A, Kojima S and Kita K.
Journal Cytogenet. Cell Genet. 79 (1-2), 132-138 (1997)
Title Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity .
Author Mariman EC, van Beersum SE, Cremers CW, Struycken PM and Ropers HH.
Journal Hum. Genet. 95 (1), 56-62 (1995)
Title Hereditary Paraganglioma-Pheochromocytoma Syndromes .
Author Kirmani,S. and Young,W.F.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter .
Author Heutink P, van der Mey AG, Sandkuijl LA, van Gils AP, Bardoel A, Breedveld GJ, van Vliet M, van Ommen GJ, Cornelisse CJ and Oostra BA.
Journal Hum. Mol. Genet. 1 (1), 7-10 (1992)

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