Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.
| RefSeq Version | NM_000436.3, 112382246 |
| Length | 3572 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| 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]. |
| RefSeq | NP_000427.1 |
| CDS | 332..1894 | Exon (1) | 1..409 | Exon (2) | 1..409 | Exon (3) | 410..518 | Exon (4) | 519..609 | Exon (5) | 610..745 | Exon (6) | 746..895 | Exon (7) | 896..1002 | Exon (8) | 1003..1063 | Exon (9) | 1064..1171 | Exon (10) | 1172..1286 | Exon (11) | 1287..1381 | Exon (12) | 1382..1430 | Exon (13) | 1431..1503 | Exon (14) | 1504..1579 | Exon (15) | 1580..1669 | Exon (16) | 1670..1750 | Exon (17) | 1751..1852 | Exon (18) | 1853..3558 |
| Translation | MAALKLLSSGLRLCASARGSGATWYKGCVCSFSTSAHRHTKFYTDPVEAVKDIPDGATVL
VGGFGLCGIPENLIDALLKTGVKGLTAVSNNAGVDNFGLGLLLRSKQIKRMVSSYVGENA
EFERQYLSGELEVELTPQGTLAERIRAGGAGVPAFYTPTGYGTLVQEGGSPIKYNKDGSV
AIASKPREVREFNGQHFILEEAITGDFALVKAWKADRAGNVIFRKSARNFNLPMCKAAET
TVVEVEEIVDIGAFAPEDIHIPQIYVHRLIKGEKYEKRIERLSIRKEGDGEAKSAKPGDD
VRERIIKRAALEFEDGMYANLGIGIPLLASNFISPNITVHLQSENGVLGLGPYPRQHEAD
ADLINAGKETVTILPGASFFSSDESFAMIRGGHVDLTMLGAMQVSKYGDLANWMIPGKMV
KGMGGAMDLVSSAKTKVVVTMEHSAKGNAHKIMEKCTLPLTGKQCVNRIITEKAVFDVDK
KKGLTLIELWEGLTVDDVQKSTGCDFAVSPKLMPMQQIAN
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| Position | Chain | Variation | Link |
| complement(74) | - | g, a | dbSNP:13182886 |
| complement(117) | - | t, c | dbSNP:1876654 |
| complement(140) | - | t, c | dbSNP:75587220 |
| complement(226) | - | t, c | dbSNP:115243000 |
| complement(294..295) | - | , ag | dbSNP:111453552 |
| complement(443) | - | g, a | dbSNP:76956231 |
| complement(504) | - | g, a | dbSNP:75134564 |
| 646 | + | c, g | dbSNP:1136453 |
| complement(651) | - | t, c | dbSNP:111495436 |
| complement(811) | - | c, a | dbSNP:78432029 |
| 987 | + | a, g | dbSNP:121909302 |
| 992 | + | a, g | dbSNP:121909303 |
| complement(1120..1121) | - | , a | dbSNP:34214254 |
| 1179 | + | c, g | dbSNP:121909299 |
| 1302 | + | a, g | dbSNP:121909301 |
| complement(1680) | - | t, c | dbSNP:111814163 |
| 1698 | + | g, t | dbSNP:121909300 |
| complement(1755) | - | c, a | dbSNP:77260858 |
| complement(1760) | - | c, a | dbSNP:78405270 |
| complement(2085) | - | t, c | dbSNP:115013864 |
| complement(2199) | - | t, g | dbSNP:74558802 |
| complement(2320) | - | g, a | dbSNP:74812668 |
| 2850 | + | c, t | dbSNP:17847289 |
| complement(2871..2872) | - | , g | dbSNP:35498423 |
| 2891 | + | a, g | dbSNP:17847290 |
| complement(2903..2904) | - | , c | dbSNP:35292693 |
| 3038 | + | g, t | dbSNP:17847291 |
| complement(3048) | - | c, a | dbSNP:74988734 |
| complement(3328) | - | g, c | dbSNP:77675837 |
| complement(3338) | - | c, a | dbSNP:10227 |
| complement(3408) | - | g, a | dbSNP:77434828 |
| 3496 | + | a, g | dbSNP:316759 |
| 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 | Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase . |
| Author | Orii,K.E., Fukao,T., Song,X.Q., Mitchell,G.A. and Kondo,N. |
| Journal | Tohoku J. Exp. Med. 215 (3), 227-236 (2008) |
| Title | Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene . |
| Author | Fukao,T., Kursula,P., Owen,E.P. and Kondo,N. |
| Journal | Mol. Genet. Metab. 92 (3), 216-221 (2007) |
| 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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