Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
| RefSeq Version | NM_003477.2, 203098752 |
| Length | 2991 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| 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. 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 | Exon (1) | 1..686 | Exon (2) | 1..686 | Exon (3) | 687..767 | Exon (4) | 768..868 | Exon (5) | 869..1068 | Exon (6) | 1069..1167 | Exon (7) | 1168..1342 | Exon (8) | 1343..1490 | Exon (9) | 1491..1549 | Exon (10) | 1550..1708 | Exon (11) | 1709..1773 | Exon (12) | 1774..2988 |
| Translation | MAASWRLGCDPRLLRYLVGFPGRRSVGLVKGALGWSVSRGANWRWFHSTQWLRGDPIKIL
MPSLSPTMEEGNIVKWLKKEGEAVSAGDALCEIETDKAVVTLDASDDGILAKIVVEEGSK
NIRLGSLIGLIVEEGEDWKHVEIPKDVGPPPPVSKPSEPRPSPEPQISIPVKKEHIPGTL
RFRLSPAARNILEKHSLDASQGTATGPRGIFTKEDALKLVQLKQTGKITESRPTPAPTAT
PTAPSPLQATAGPSYPRPVIPPVSTPGQPNAVGTFTEIPASNIRRVIAKRLTESKSTVPH
AYATADCDLGAVLKVRQDLVKDDIKVSVNDFIIKAAAVTLKQMPDVNVSWDGEGPKQLPF
IDISVAVATDKGLLTPIIKDAAAKGIQEIADSVKALSKKARDGKLLPEEYQGGSFSISNL
GMFGIDEFTAVINPPQACILAVGRFRPVLKLTEDEEGNAKLQQRQLITVTMSSDSRVVDD
ELATRFLKSFKANLENPIRLA
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Gene Symbol | PDHX |
| Gene Synonym | DLDBP; E3BP; OPDX; PDX1; proX |
| Chromosome | 11 |
| Locus Map | 11p13 |
| All Transcripts | NM_003477 , NM_001135024 , NM_001166158 |
| 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) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |