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Database:

Blast Method:

 
 


Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu17913 Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu17913C Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

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_000436.3, 112382246
Length 1563 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), mRNA.
Product succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial precursor
Comment

Summary: This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008].

RefSeq NP_000427.1
CDS 332..1894
Misc Feature(1)164..166
Misc Feature(2)452..1153
Misc Feature(3)473..1882
Misc Feature(4)839..841
Misc Feature(5)1229..1855
Exon (1)1..409
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (2)410..518
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (3)519..609
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (4)610..745
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (5)746..895
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (6)896..1002
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (7)1003..1063
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (8)1064..1171
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (9)1172..1286
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (10)1287..1381
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (11)1382..1430
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (12)1431..1503
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (13)1504..1579
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (14)1580..1669
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (15)1670..1750
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (16)1751..1852
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Exon (17)1853..3558
Gene:OXCT1
Gene Synonym:OXCT; SCOT
Translation MAALKLLSSGLRLCASARGSGATWYKGCVCSFSTSAHRHTKFYTDPVEAVKDIPDGATVL VGGFGLCGIPENLIDALLKTGVKGLTAVSNNAGVDNFGLGLLLRSKQIKRMVSSYVGENA EFERQYLSGELEVELTPQGTLAERIRAGGAGVPAFYTPTGYGTLVQEGGSPIKYNKDGSV AIASKPREVREFNGQHFILEEAITGDFALVKAWKADRAGNVIFRKSARNFNLPMCKAAET TVVEVEEIVDIGAFAPEDIHIPQIYVHRLIKGEKYEKRIERLSIRKEGDGEAKSAKPGDD VRERIIKRAALEFEDGMYANLGIGIPLLASNFISPNITVHLQSENGVLGLGPYPRQHEAD ADLINAGKETVTILPGASFFSSDESFAMIRGGHVDLTMLGAMQVSKYGDLANWMIPGKMV KGMGGAMDLVSSAKTKVVVTMEHSAKGNAHKIMEKCTLPLTGKQCVNRIITEKAVFDVDK KKGLTLIELWEGLTVDDVQKSTGCDFAVSPKLMPMQQIAN
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Position Chain Variation Link
complement(74)-dbSNP:
complement(74)-g, adbSNP:13182886
complement(117)-t, cdbSNP:1876654
complement(140)-t, cdbSNP:75587220
complement(226)-t, cdbSNP:115243000
complement(272)-g, cdbSNP:182767661
complement(292)-g, adbSNP:377650563
complement(294..295)-, agdbSNP:111453552
complement(310)-g, adbSNP:373954851
complement(327)-g, c, adbSNP:200129807
complement(373)-g, adbSNP:371302560
complement(376)-g, adbSNP:200780942
complement(378)-g, adbSNP:201384699
complement(422)-dbSNP:
complement(422)-c, adbSNP:367774487
complement(430)-g, cdbSNP:182901792
complement(435)-t, cdbSNP:373779789
complement(441)-t, cdbSNP:190346361
complement(443)-g, adbSNP:76956231
complement(448)-g, adbSNP:370994229
complement(464)-g, cdbSNP:199713007
complement(504)-g, adbSNP:75134564
complement(631)-dbSNP:
complement(631)-c, adbSNP:140290234
646+c, gdbSNP:1136453
complement(651)-t, cdbSNP:111495436
complement(652)-t, cdbSNP:369367955
complement(709)-g, cdbSNP:376948188
complement(718)-c, adbSNP:372702324
complement(721)-t, cdbSNP:369908358
729+a, tdbSNP:267606930
746+dbSNP:
746+a, gdbSNP:398123393
complement(775)-g, adbSNP:372032720
complement(778)-t, cdbSNP:150912189
complement(808)-t, cdbSNP:141567487
complement(811)-c, adbSNP:78432029
complement(823)-g, cdbSNP:374319828
complement(878)-t, cdbSNP:371323699
complement(897)-dbSNP:
complement(897)-c, adbSNP:267600639
complement(975)-g, adbSNP:201752548
complement(981)-c, adbSNP:142383658
987+a, gdbSNP:121909302
complement(991)-g, adbSNP:148089241
992+a, gdbSNP:121909303
complement(1008)-dbSNP:
complement(1008)-t, cdbSNP:368841359
complement(1027)-t, cdbSNP:138363255
complement(1048)-t, cdbSNP:374056102
complement(1089)-dbSNP:
complement(1089)-g, adbSNP:376437637
complement(1101)-t, cdbSNP:145689464
complement(1103)-g, cdbSNP:191659907
complement(1120..1121)-, adbSNP:34214254
complement(1173)-dbSNP:
complement(1173)-t, cdbSNP:200306864
complement(1177)-t, cdbSNP:375281835
1179+c, gdbSNP:121909299
complement(1194)-g, cdbSNP:140541067
complement(1200)-c, adbSNP:138806071
complement(1204)-t, cdbSNP:371211907
complement(1231)-g, adbSNP:201055628
complement(1258)-g, adbSNP:150171889
complement(1284)-t, cdbSNP:200183355
1302+dbSNP:
1302+a, gdbSNP:121909301
complement(1343)-t, cdbSNP:370812681
complement(1411)-dbSNP:
complement(1411)-g, adbSNP:140869022
complement(1448)-dbSNP:
complement(1448)-t, cdbSNP:149902962
complement(1513)-dbSNP:
complement(1513)-t, g, adbSNP:142593804
complement(1619)-dbSNP:
complement(1619)-g, cdbSNP:141321563
complement(1673)-dbSNP:
complement(1673)-t, adbSNP:147809535
complement(1680)-t, cdbSNP:111814163
1698+g, tdbSNP:121909300
complement(1701)-g, cdbSNP:369643387
1760+dbSNP:
1760+a, cdbSNP:78405270
complement(1779)-t, cdbSNP:201531575
complement(1789)-t, cdbSNP:372337270
complement(1814)-t, cdbSNP:368431817
complement(1822)-g, adbSNP:144283422
complement(1837)-g, adbSNP:368510146
complement(1886)-dbSNP:
complement(1886)-t, cdbSNP:180683984
complement(1889)-t, adbSNP:370598234
complement(1895)-t, cdbSNP:372435451
complement(1913)-t, cdbSNP:368135891
complement(1920)-t, cdbSNP:190436225
complement(2085)-t, cdbSNP:185659338
complement(2199)-t, gdbSNP:74558802
complement(2320)-g, adbSNP:200642540
complement(2326)-g, adbSNP:181912632
complement(2339)-g, adbSNP:372407900
complement(2380..2381)-, gdbSNP:370172639
complement(2519)-t, cdbSNP:188993144
complement(2829)-t, cdbSNP:184393125
2850+c, tdbSNP:17847289
complement(2871..2872)-, gdbSNP:35498423
complement(2887)-g, adbSNP:151336185
2891+a, gdbSNP:17847290
complement(2903..2904)-, cdbSNP:35292693
3038+g, tdbSNP:17847291
complement(3123)-g, adbSNP:191846235
complement(3126)-g, adbSNP:186983697
complement(3230)-g, adbSNP:142454624
complement(3328)-g, cdbSNP:77675837
complement(3338)-c, adbSNP:10227
complement(3408)-g, adbSNP:184373895
complement(3472)-t, cdbSNP:192688023
3496+a, gdbSNP:316759
Gene SymbolOXCT1
Gene SynonymOXCT; SCOT
Chromosome5
Locus Map5p13.1
Title Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency .
Author Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot MT and Kondo N.
Journal Biochim. Biophys. Acta 1812 (5), 619-624 (2011)
Title Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy .
Author Maurer GD, Brucker DP, Bahr O, Harter PN, Hattingen E, Walenta S, Mueller-Klieser W, Steinbach JP and Rieger J.
Journal BMC Cancer 11, 315 (2011)
Title A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene .
Author Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N and Hasegawa T.
Journal J. Inherit. Metab. Dis. 33 (SUPPL 3), S307-S313 (2010)
Title Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia .
Author Martins-de-Souza D, Schmitt A, Roder R, Lebar M, Schneider-Axmann T, Falkai P and Turck CW.
Journal J Psychiatr Res 44 (14), 989-991 (2010)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL and O'Brien SJ.
Journal PLoS ONE 5 (9), E12862 (2010)
Title Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings .
Author Song XQ, Fukao T, Watanabe H, Shintaku H, Hirayama K, Kassovska-Bratinova S, Kondo N and Mitchell GA.
Journal Hum. Mutat. 12 (2), 83-88 (1998)
Title Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases .
Author Fukao T, Song XQ, Mitchell GA, Yamaguchi S, Sukegawa K, Orii T and Kondo N.
Journal Pediatr. Res. 42 (4), 498-502 (1997)
Title Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient .
Author Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Perez-Cerda C, Ugarte M, Chartrand C, Vobecky S, Kondo N and Mitchell GA.
Journal Am. J. Hum. Genet. 59 (3), 519-528 (1996)
Title A new case of succinyl-CoA: acetoacetate transferase deficiency .
Author Perez-Cerda C, Merinero B, Sanz P, Jimenez A, Hernandez C, Garcia
Journal J. Inherit. Metab. Dis. 15 (3), 371-373 (1992)
Title Acetoacetate utilization by human placental mitochondria .
Author Zolnierowicz,S., Scislowski,P.W., Swierczynski,J. and Zelewski,L.
Journal Placenta 5 (3), 271-276 (1984)

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