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Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_001931 Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA. Full Lenth $1523.20
ORF Sequence $563.76


RefSeq Version NM_001931.4, 260436925
Length 4352 bp
Structure linear
Update Date 09-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.
Product dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial precursor
Comment

Summary: This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.

RefSeq NP_001922.2
CDS 660..2603
Exon (1)1..938
Exon (2)1..938
Exon (3)939..1040
Exon (4)1041..1165
Exon (5)1166..1319
Exon (6)1320..1446
Exon (7)1447..1634
Exon (8)1635..1788
Exon (9)1789..1856
Exon (10)1857..1949
Exon (11)1950..2057
Exon (12)2058..2173
Exon (13)2174..2336
Exon (14)2337..2473
Exon (15)2474..4346
Translation MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCG WTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKIN EGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYT LDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEK KVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADI SAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPL AKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVF TDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFI IKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIAND VVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPA DNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL
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Position Chain Variation Link
13+a, cdbSNP:116182415
23+a, gdbSNP:114863504
62+c, tdbSNP:78298568
359+a, gdbSNP:116851530
424+a, gdbSNP:117362077
503+a, gdbSNP:114057975
504+c, gdbSNP:115067052
714+c, gdbSNP:61757217
complement(787)-g, adbSNP:2303436
952+c, tdbSNP:537057
954+c, tdbSNP:537060
complement(1011)-t, gdbSNP:2553933
1160..1161+, gdbSNP:35324129
1221..1222+, cdbSNP:35957705
1245..1246+, cdbSNP:34321117
1285+a, gdbSNP:11553595
1352+c, tdbSNP:34680691
1565+a, tdbSNP:11553593
1587+a, gdbSNP:116125936
1597+a, tdbSNP:11553592
complement(1612)-g, adbSNP:627441
1650+c, gdbSNP:78320677
2010+a, gdbSNP:10891314
2194+a, gdbSNP:113521778
2318+a, cdbSNP:79529792
2387+a, cdbSNP:119103240
2556+g, tdbSNP:79112819
2619+c, tdbSNP:1053971
complement(2699)-t, gdbSNP:534753
2771+a, gdbSNP:77304693
complement(3022)-t, cdbSNP:9371
complement(3229..3230)-, cdbSNP:71060213
3476+c, tdbSNP:73568056
3523+a, gdbSNP:116895022
3609..3610+, cdbSNP:34429744
3712+c, tdbSNP:75608010
3827..3828+, ggaadbSNP:113576164
3839+a, gdbSNP:78034178
3851+c, gdbSNP:9822
4074..4075+, cdbSNP:35921330
Gene SymbolDLAT
Gene SynonymDLTA; PDC-E2; PDCE2
Chromosome11
Locus Map11q23.1
All Transcripts NM_001931
Title Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study .
Author Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H., Schreiber,S. and Nebel,A.
Journal Mutat. Res. 694 (1-2), 13-19 (2010)
Title A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM) .
Author Romero,R., Friel,L.A., Velez Edwards,D.R., Kusanovic,J.P., Hassan,S.S., Mazaki-Tovi,S., Vaisbuch,E., Kim,C.J., Erez,O., Chaiworapongsa,T., Pearce,B.D., Bartlett,J., Salisbury,B.A., Anant,M.K., Vovis,G.F., Lee,M.S., Gomez,R., Behnke,E., Oyarzun,E., Tromp,G., Williams,S.M. and Menon,R.
Journal Am. J. Obstet. Gynecol. 203 (4), 361 (2010)
Title Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly .
Author Vijayakrishnan,S., Kelly,S.M., Gilbert,R.J., Callow,P., Bhella,D., Forsyth,T., Lindsay,J.G. and Byron,O.
Journal J. Mol. Biol. 399 (1), 71-93 (2010)
Title Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes .
Author Romero,R., Velez Edwards,D.R., Kusanovic,J.P., Hassan,S.S., Mazaki-Tovi,S., Vaisbuch,E., Kim,C.J., Chaiworapongsa,T., Pearce,B.D., Friel,L.A., Bartlett,J., Anant,M.K., Salisbury,B.A., Vovis,G.F., Lee,M.S., Gomez,R., Behnke,E., Oyarzun,E., Tromp,G., Williams,S.M. and Menon,R.
Journal Am. J. Obstet. Gynecol. 202 (5), 431 (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 Nucleotide sequence of a cDNA encoding the lipoate acetyl transferase (E2) of human heart pyruvate dehydrogenase complex differs from that of human placenta .
Author Moehario,L.H., Smooker,P.M., Devenish,R.J., Mackay,I.R., Gershwin,M.E. and Marzuki,S.
Journal Biochem. Int. 20 (2), 417-422 (1990)
Title Nucleotide sequence of a cDNA for the dihydrolipoamide acetyltransferase component of human pyruvate dehydrogenase complex .
Author Thekkumkara,T.J., Ho,L., Wexler,I.D., Pons,G., Liu,T.C. and Patel,M.S.
Journal FEBS Lett. 240 (1-2), 45-48 (1988)
Title Primary structure of the human M2 mitochondrial autoantigen of primary biliary cirrhosis: dihydrolipoamide acetyltransferase .
Author Coppel,R.L., McNeilage,L.J., Surh,C.D., Van de Water,J., Spithill,T.W., Whittingham,S. and Gershwin,M.E.
Journal Proc. Natl. Acad. Sci. U.S.A. 85 (19), 7317-7321 (1988)
Title Isolation of a cDNA clone for the dihydrolipoamide acetyltransferase component of the human liver pyruvate dehydrogenase complex .
Author Thekkumkara,T.J., Jesse,B.W., Ho,L., Raefsky,C., Pepin,R.A., Javed,A.A., Pons,G. and Patel,M.S.
Journal Biochem. Biophys. Res. Commun. 145 (2), 903-907 (1987)
Title The glucose-lactic acid cycle and gluconeogenesis .
Author Cori,C.F.
Journal Curr. Top. Cell. Regul. 18, 377-387 (1981)

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