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Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000436 Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_000436.3, 112382246
Length 3572 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, 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(294..295)-, agdbSNP:111453552
complement(327)-g, adbSNP:200129807
complement(376)-g, adbSNP:200780942
complement(378)-g, adbSNP:201384699
complement(430)-dbSNP:
complement(430)-g, cdbSNP:182901792
complement(441)-t, cdbSNP:190346361
complement(443)-g, adbSNP:76956231
complement(464)-g, cdbSNP:199713007
complement(504)-g, adbSNP:75134564
complement(631)-dbSNP:
complement(631)-c, adbSNP:140290234
complement(646)-g, cdbSNP:1136453
complement(651)-t, cdbSNP:111495436
729+a, tdbSNP:267606930
complement(778)-dbSNP:
complement(778)-t, cdbSNP:150912189
complement(808)-t, cdbSNP:141567487
complement(811)-c, adbSNP:78432029
complement(975)-dbSNP:
complement(975)-g, adbSNP:201752548
complement(981)-c, adbSNP:142383658
complement(987)-g, adbSNP:121909302
complement(991)-g, adbSNP:148089241
complement(992)-g, adbSNP:121909303
complement(1027)-dbSNP:
complement(1027)-t, cdbSNP:138363255
complement(1101)-dbSNP:
complement(1101)-t, cdbSNP:145689464
complement(1103)-g, cdbSNP:191659907
complement(1123..1124)-, adbSNP:34214254
complement(1173)-dbSNP:
complement(1173)-t, cdbSNP:200306864
complement(1179)-g, cdbSNP:121909299
complement(1194)-g, cdbSNP:140541067
complement(1200)-c, adbSNP:138806071
complement(1231)-g, adbSNP:201055628
complement(1258)-g, adbSNP:150171889
complement(1284)-t, cdbSNP:200183355
complement(1302)-dbSNP:
complement(1302)-g, adbSNP:121909301
complement(1411)-dbSNP:
complement(1411)-g, adbSNP:140869022
complement(1448)-dbSNP:
complement(1448)-t, cdbSNP:149902962
complement(1457)-t, cdbSNP:150984094
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
complement(1698)-t, gdbSNP:121909300
complement(1760)-dbSNP:
complement(1760)-c, adbSNP:78405270
complement(1779)-t, cdbSNP:201531575
complement(1822)-g, adbSNP:144283422
complement(1886)-dbSNP:
complement(1886)-t, cdbSNP:180683984
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(2519)-t, cdbSNP:188993144
complement(2829)-t, cdbSNP:184393125
complement(2850)-t, cdbSNP:17847289
complement(2871..2872)-, gdbSNP:35498423
complement(2887)-g, adbSNP:151336185
complement(2891)-g, adbSNP:17847290
complement(2903..2904)-, cdbSNP:35292693
complement(3038)-t, gdbSNP: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
complement(3496)-g, adbSNP:316759
Gene SymbolOXCT1
Gene SynonymOXCT; SCOT
Chromosome5
Locus Map5p13.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000436 Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA. In-stock $509.00 $460.00 12
Title Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency .
Author Fukao,T., Sass,J.O., Kursula,P., Thimm,E., Wendel,U., Ficicioglu,C., Monastiri,K., Guffon,N., Baric,I., Zabot,M.T. 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,G.D., Brucker,D.P., Bahr,O., Harter,P.N., Hattingen,E., Walenta,S., Mueller-Klieser,W., Steinbach,J.P. and Rieger,J.
Journal BMC Cancer 11, 315 (2011)
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,C.W.
Journal J Psychiatr Res 44 (14), 989-991 (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 Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes .
Author MacDonald,M.J., Longacre,M.J., Langberg,E.C., Tibell,A., Kendrick,M.A., Fukao,T. and Ostenson,C.G.
Journal Diabetologia 52 (6), 1087-1091 (2009)
Title Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings .
Author Song,X.Q., Fukao,T., Watanabe,H., Shintaku,H., Hirayama,K., Kassovska-Bratinova,S., Kondo,N. and Mitchell,G.A.
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,X.Q., Mitchell,G.A., 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,X.Q., Duncan,A.M., Chen,H.S., Robert,M.F., Perez-Cerda,C., Ugarte,M., Chartrand,C., Vobecky,S., Kondo,N. and Mitchell,G.A.
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,M.J. and Ugarte,M.
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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