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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001931 Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_001931.4, 260436925
Length 4352 bp
Structure linear
Update Date 17-APR-2013
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.[provided by RefSeq, Oct 2009].

RefSeq NP_001922.2
CDS 660..2603
Misc Feature(1)582..584
Misc Feature(2)933..1154
Misc Feature(3)order(1023..1025,1044..1061,1071..1073)
Misc Feature(4)1053..1055
Misc Feature(5)1053..1055
Misc Feature(6)1314..1538
Misc Feature(7)1320..2600
Misc Feature(8)order(1404..1406,1425..1442,1452..1454)
Misc Feature(9)1434..1436
Misc Feature(10)1434..1436
Misc Feature(11)1716..1832
Misc Feature(12)1731..1826
Misc Feature(13)1908..2600
Misc Feature(14)1965..2600
Misc Feature(15)2055..2057
Exon (1)1..938
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (2)939..1040
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (3)1041..1165
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (4)1166..1319
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (5)1320..1446
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (6)1447..1634
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (7)1635..1788
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (8)1789..1856
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (9)1857..1949
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (10)1950..2057
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (11)2058..2173
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (12)2174..2336
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (13)2337..2473
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Exon (14)2474..4346
Gene:DLAT
Gene Synonym:DLTA; PDC-E2; PDCE2
Translation MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCG WTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKIN EGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYT LDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEK KVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADI SAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPL AKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVF TDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFI IKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIAND VVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPA DNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL
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Position Chain Variation Link
13+dbSNP:
13+a, cdbSNP:190887558
23+a, gdbSNP:114863504
62+c, tdbSNP:78298568
88+a, gdbSNP:183456915
259+c, tdbSNP:187374809
504+c, gdbSNP:115067052
634+a, tdbSNP:191631181
645+a, gdbSNP:142143586
701+a, gdbSNP:201450116
705+a, gdbSNP:150145390
714+c, gdbSNP:61757217
737+a, gdbSNP:200888235
768+c, gdbSNP:183829292
787+a, gdbSNP:2303436
824+c, gdbSNP:199520186
836+c, tdbSNP:150994149
878+a, gdbSNP:140775508
949+dbSNP:
949+c, gdbSNP:192386362
952+c, tdbSNP:537057
954+c, tdbSNP:537060
977+a, cdbSNP:201070254
1002+a, gdbSNP:200147835
1011+g, tdbSNP:2553933
1041+dbSNP:
1041+a, gdbSNP:144677434
1069+g, tdbSNP:138505899
1142+c, gdbSNP:181807830
1146+a, gdbSNP:200786104
1160..1161+, gdbSNP:35324129
1183+dbSNP:
1183+c, gdbSNP:201046000
1198+c, tdbSNP:140241473
1221..1222+, cdbSNP:35957705
1222+c, tdbSNP:200488420
1225+a, cdbSNP:145146632
1229+a, gdbSNP:143107853
1231+c, tdbSNP:200500508
1242+c, tdbSNP:149440666
1244+a, tdbSNP:144782209
1245..1246+, cdbSNP:34321117
1265+a, gdbSNP:148153443
1269+c, tdbSNP:141869115
1285+a, gdbSNP:11553595
1287+a, gdbSNP:140678772
1346+dbSNP:
1346+c, tdbSNP:144642035
1352+c, tdbSNP:34680691
1412+a, gdbSNP:201257054
1413+c, tdbSNP:139194443
1487+dbSNP:
1487+g, tdbSNP:199835215
1527+c, gdbSNP:199753392
1565+a, tdbSNP:11553593
1581+c, tdbSNP:201280576
1586+c, tdbSNP:149969198
1587+a, gdbSNP:116125936
1597+a, tdbSNP:11553592
1605+c, tdbSNP:149088081
1612+a, gdbSNP:627441
1650+dbSNP:
1650+c, gdbSNP:78320677
1675+c, tdbSNP:146700813
1694+a, gdbSNP:140302942
1801+dbSNP:
1801+a, gdbSNP:144235197
1811+c, gdbSNP:147992445
1827+g, tdbSNP:140603763
1862+dbSNP:
1862+a, gdbSNP:200907695
1870+c, tdbSNP:150484481
1888+c, gdbSNP:143399280
1924+a, gdbSNP:199838714
1936+g, tdbSNP:138250156
1998+dbSNP:
1998+c, tdbSNP:193921135
2010+a, gdbSNP:10891314
2033+a, gdbSNP:147264946
2147+dbSNP:
2147+c, tdbSNP:139119836
2194+dbSNP:
2194+a, gdbSNP:113521778
2244+a, gdbSNP:200859206
2295+a, gdbSNP:143152014
2304+a, gdbSNP:147456178
2350+dbSNP:
2350+c, tdbSNP:148508750
2351+a, gdbSNP:185907405
2359+a, gdbSNP:141765049
2387+a, cdbSNP:119103240
2402+c, tdbSNP:150592352
2499+dbSNP:
2499+g, tdbSNP:201582626
2613+a, gdbSNP:201775924
2619+c, tdbSNP:1053971
2699+g, tdbSNP:534753
2770+c, tdbSNP:142746877
2771+a, gdbSNP:77304693
2837+g, tdbSNP:184580509
2846+c, tdbSNP:189254124
3022+c, tdbSNP:9371
3105+a, cdbSNP:147387507
3225+a, cdbSNP:139429714
3228..3229+, cdbSNP:71060213
3476+c, tdbSNP:73568056
3485+a, cdbSNP:149883921
3523+a, gdbSNP:116895022
3609..3610+, cdbSNP:34429744
3712+c, tdbSNP:75608010
3823+c, gdbSNP:181942050
3827..3828+, ggaadbSNP:113576164
3839+a, gdbSNP:200256272
3851+c, gdbSNP:9822
3978+c, tdbSNP:144371275
4056+a, gdbSNP:148798969
4073..4074+, cdbSNP:35921330
4198+a, gdbSNP:184244244
4223+c, tdbSNP:188958332
4286+g, tdbSNP:181058458
Gene SymbolDLAT
Gene SynonymDLTA; PDC-E2; PDCE2
Chromosome11
Locus Map11q23.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001931 Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA. On-demand $849.00 20
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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