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Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_003477 Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. ORF Sequence $436.74
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RefSeq Version NM_003477.2, 203098752
Length 2991 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
Product pyruvate dehydrogenase protein X component, mitochondrial isoform 1 precursor
Comment

Summary: The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor 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 eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009].


Transcript Variant: This variant (1) encodes the longest isoform (1).


Sequence Note: Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

RefSeq NP_003468.2
CDS 527..2032
Misc Feature(1)344..346
Misc Feature(2)692..2026
Misc Feature(3)692..2026
Misc Feature(4)695..919
Misc Feature(5)order(785..787,806..823,833..835)
Misc Feature(6)815..817
Misc Feature(7)1067..1180
Misc Feature(8)1073..1168
Misc Feature(9)1106..1108
Misc Feature(10)1397..2026
Exon (1)1..686
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (2)687..767
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (3)768..868
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (4)869..1068
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (5)1069..1167
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (6)1168..1342
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (7)1343..1490
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (8)1491..1549
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (9)1550..1708
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (10)1709..1773
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Exon (11)1774..2988
Gene:PDHX
Gene Synonym:DLDBP; E3BP; OPDX; PDX1; proX
Translation MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKIL MPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSK NIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTL RFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALKLVQLKQTGKITESRPTPAPTAT PTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPH AYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPF IDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNL GMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDD ELATRFLKSFKANLENPIRLA
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Position Chain Variation Link
5+dbSNP:
5+a, c, g, tdbSNP:35924042
21+c, tdbSNP:2016814
22+a, gdbSNP:16926448
94+c, tdbSNP:199893242
97+a, gdbSNP:202241286
105+g, tdbSNP:146420175
116+a, gdbSNP:139123979
137+c, tdbSNP:2956114
208+c, tdbSNP:2956113
225+c, tdbSNP:2956112
255+c, tdbSNP:2956111
325+a, gdbSNP:113073242
396..398+, ggcdbSNP:139999735
398+c, tdbSNP:112032820
439+g, tdbSNP:2956110
504+a, cdbSNP:201033364
523+c, gdbSNP:3818401
545+c, gdbSNP:147403982
555+a, cdbSNP:139613834
561+c, gdbSNP:200419151
573+a, cdbSNP:118136428
575+c, tdbSNP:182569882
589+a, gdbSNP:2956109
593+c, tdbSNP:1049306
596+c, gdbSNP:11539201
634+c, tdbSNP:1049307
686+a, gdbSNP:146678221
740+dbSNP:
740+a, cdbSNP:143301712
776+dbSNP:
776+a, gdbSNP:200562821
791+a, gdbSNP:139199177
793+a, gdbSNP:111829480
827+a, gdbSNP:11539202
828+c, tdbSNP:61752924
843+a, gdbSNP:146456454
845+a, gdbSNP:72912954
847+a, tdbSNP:201359586
865+a, gdbSNP:34582941
894+dbSNP:
894+a, gdbSNP:150462412
937+c, tdbSNP:145394719
945+a, tdbSNP:199531388
964+c, tdbSNP:75182779
972+c, tdbSNP:191524984
1000+a, gdbSNP:148723565
1027+a, tdbSNP:139085745
1033+c, tdbSNP:79170416
1037+a, gdbSNP:142256229
1057+c, tdbSNP:76486106
1068+a, gdbSNP:148117169
1074+dbSNP:
1074+c, gdbSNP:141719797
1091+c, tdbSNP:150572021
1092+a, gdbSNP:61752925
1103+c, gdbSNP:149337104
1105+a, gdbSNP:61752926
1115+a, cdbSNP:139052284
1122+c, gdbSNP:187115311
1133+a, cdbSNP:200008900
1144+c, gdbSNP:143997835
1148+c, tdbSNP:61752927
1166+c, gdbSNP:146445744
1170+dbSNP:
1170+a, gdbSNP:200568558
1200+c, tdbSNP:148645836
1202+a, gdbSNP:112573215
1205+a, cdbSNP:201706378
1227+c, tdbSNP:142914598
1232+c, gdbSNP:113722325
1233..1234+, cccccccccccccdbSNP:146230351
1233+a, cdbSNP:151100443
1237+c, gdbSNP:200018992
1238+a, cdbSNP:118054792
1260+c, tdbSNP:141096005
1268+c, g, tdbSNP:113309941
1275+c, tdbSNP:146876119
1277+g, tdbSNP:1049311
1292+c, tdbSNP:147958676
1296+a, gdbSNP:141506224
1320+c, gdbSNP:183059121
1324+c, tdbSNP:61760973
1335+a, gdbSNP:138205941
1371+dbSNP:
1371+a, gdbSNP:149176285
1376+c, tdbSNP:143131258
1380+a, gdbSNP:148234977
1384+a, gdbSNP:497582
1407+c, gdbSNP:111270862
1415+a, gdbSNP:146262415
1483+c, tdbSNP:36047324
1502+dbSNP:
1502+c, gdbSNP:35560997
1530+c, tdbSNP:150518427
1574+dbSNP:
1574+c, tdbSNP:139509954
1578+a, gdbSNP:200866298
1583+c, gdbSNP:149705022
1587+a, gdbSNP:200189510
1619+a, gdbSNP:180948326
1626+g, tdbSNP:201532817
1635+a, tdbSNP:17850649
1640+c, tdbSNP:201070810
1655+a, gdbSNP:75430333
1664+c, gdbSNP:202188706
1714+dbSNP:
1714+a, gdbSNP:200434738
1742+g, tdbSNP:141752861
1765+a, tdbSNP:148758785
1849+dbSNP:
1849+a, gdbSNP:200276180
1857+c, tdbSNP:34398018
1859+g, tdbSNP:147948716
1908+c, tdbSNP:141886009
1929+c, tdbSNP:201928307
1988+a, gdbSNP:145345995
2029+c, tdbSNP:151049569
2059+a, cdbSNP:74524673
2117..2118+, tdbSNP:139648571
2146+a, gdbSNP:76663700
2155+a, gdbSNP:59918794
2205+a, gdbSNP:75863418
2232+c, tdbSNP:16926653
2518+a, cdbSNP:9326
2540..2543+, aatadbSNP:149231678
2540+, aatadbSNP:139344860
2560+a, cdbSNP:1063351
2676+g, tdbSNP:7808
2767+a, gdbSNP:3210067
2794+c, tdbSNP:3210068
2871+a, gdbSNP:956130
2890+c, tdbSNP:189194127
2922+c, tdbSNP:1049333
2936+g, tdbSNP:182283782
Gene SymbolPDHX
Gene SynonymDLDBP; E3BP; OPDX; PDX1; proX
Chromosome11
Locus Map11p13
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001135024 Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), transcript variant 2, mRNA. Full Length $771.98
ORF Sequence $423.69
NM_001166158 Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. Full Length $669.90
ORF Sequence $239.25
NM_003477 Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $867.39
ORF Sequence $436.74
Title Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study .
Author Lessard,C.J., Adrianto,I., Kelly,J.A., Kaufman,K.M., Grundahl,K.M., Adler,A., Williams,A.H., Gallant,C.J., Anaya,J.M., Bae,S.C., Boackle,S.A., Brown,E.E., Chang,D.M., Criswell,L.A., Edberg,J.C., Freedman,B.I., Gregersen,P.K., Gilkeson,G.S., Jacob,C.O., James,J.A., Kamen,D.L., Kimberly,R.P., Martin,J., Merrill,J.T., Niewold,T.B., Park,S.Y., Petri,M.A., Pons-Estel,B.A., Ramsey-Goldman,R., Reveille,J.D., Song,Y.W., Stevens,A.M., Tsao,B.P., Vila,L.M., Vyse,T.J., Yu,C.Y., Guthridge,J.M., Bruner,G.R., Langefeld,C.D., Montgomery,C., Harley,J.B., Scofield,R.H., Gaffney,P.M. and Moser,K.L.
Journal Am. J. Hum. Genet. 88 (1), 83-91 (2011)
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 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 Pyruvate dehydrogenase E3 binding protein (protein X) deficiency .
Author Brown,R.M., Head,R.A., Morris,A.A., Raiman,J.A., Walter,J.H., Whitehouse,W.P. and Brown,G.K.
Journal Dev Med Child Neurol 48 (9), 756-760 (2006)
Title A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency .
Author Mine,M., Brivet,M., Schiff,M., de Baulny,H.O., Chuzhanova,N. and Marsac,C.
Journal Mol. Genet. Metab. 89 (1-2), 106-110 (2006)
Title Dihydrolipoamide dehydrogenase-binding protein of the human pyruvate dehydrogenase complex. DNA-derived amino acid sequence, expression, and reconstitution of the pyruvate dehydrogenase complex .
Author Harris,R.A., Bowker-Kinley,M.M., Wu,P., Jeng,J. and Popov,K.M.
Journal J. Biol. Chem. 272 (32), 19746-19751 (1997)
Title Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia .
Author Geoffroy,V., Fouque,F., Benelli,C., Poggi,F., Saudubray,J.M., Lissens,W., Meirleir,L.D., Marsac,C., Lindsay,J.G. and Sanderson,S.J.
Journal Pediatrics 97 (2), 267-272 (1996)
Title Recombinant expression and evaluation of the lipoyl domains of the dihydrolipoyl acetyltransferase component of the human pyruvate dehydrogenase complex .
Author Liu,S., Baker,J.C., Andrews,P.C. and Roche,T.E.
Journal Arch. Biochem. Biophys. 316 (2), 926-940 (1995)
Title Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia .
Author Robinson,B.H., MacKay,N., Petrova-Benedict,R., Ozalp,I., Coskun,T. and Stacpoole,P.W.
Journal J. Clin. Invest. 85 (6), 1821-1824 (1990)
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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