Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
| RefSeq Version | NM_000925.3, 291084856 |
| Length | 1544 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. |
| Product | pyruvate dehydrogenase E1 component subunit beta, mitochondrial isoform 1 precursor |
| Comment | Summary: The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1). |
| RefSeq | NP_000916.2 |
| CDS | 44..1123 | Exon (1) | 1..85 | Exon (2) | 1..85 | Exon (3) | 86..139 | Exon (4) | 140..247 | Exon (5) | 248..310 | Exon (6) | 311..346 | Exon (7) | 347..632 | Exon (8) | 633..743 | Exon (9) | 744..835 | Exon (10) | 836..977 | Exon (11) | 978..1527 |
| Translation | MAAVSGLVRRPLREVSGLLKRRFHWTAPAALQVTVRDAINQGMDEELERDEKVFLLGEEV
AQYDGAYKVSRGLWKKYGDKRIIDTPISEMGFAGIAVGAAMAGLRPICEFMTFNFSMQAI
DQVINSAAKTYYMSGGLQPVPIVFRGPNGASAGVAAQHSQCFAAWYGHCPGLKVVSPWNS
EDAKGLIKSAIRDNNPVVVLENELMYGVPFEFPPEAQSKDFLIPIGKAKIERQGTHITVV
SHSRPVGHCLEAAAVLSKEGVECEVINMRTIRPMDMETIEASVMKTNHLVTVEGGWPQFG
VGAEICARIMEGPAFNFLDAPAVRVTGADVPMPYAKILEDNSIPQVKDIIFAIKKTLNI
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| 175 | + | c, t | dbSNP:11542399 |
| 181 | + | a, g | dbSNP:11542403 |
| complement(191) | - | t, c | dbSNP:111470467 |
| 206 | + | c, t | dbSNP:11542400 |
| 324 | + | a, g | dbSNP:11542401 |
| complement(366) | - | g, c | dbSNP:75997072 |
| 438 | + | a, g | dbSNP:28935769 |
| complement(478) | - | t, c | dbSNP:4264746 |
| 481 | + | a, g | dbSNP:1126551 |
| complement(636) | - | g, a | dbSNP:35514615 |
| complement(643) | - | t, a | dbSNP:74377096 |
| 681 | + | c, t | dbSNP:4071983 |
| 682 | + | c, t | dbSNP:4071984 |
| 935 | + | a, c | dbSNP:13446 |
| complement(976) | - | , largedeletion | dbSNP:71801598 |
| 1073 | + | c, t | dbSNP:28933391 |
| 1215 | + | a, c | dbSNP:4228 |
| 1222 | + | c, g, t | dbSNP:7230 |
| 1366 | + | a, c | dbSNP:1126722 |
| 1419 | + | c, g | dbSNP:7231 |
| 1476 | + | c, t | dbSNP:1126735 |
| 1479 | + | a, g | dbSNP:1126737 |
| Gene Symbol | PDHB |
| Gene Synonym | DKFZp564K0164; PHE1B |
| Chromosome | 3 |
| Locus Map | 3p21.1-p14.2 |
| All Transcripts | NM_000925 , NM_001173468 |
| 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 | Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency . |
| Author | Okajima,K., Korotchkina,L.G., Prasad,C., Rupar,T., Phillips,J.A. III, Ficicioglu,C., Hertecant,J., Patel,M.S. and Kerr,D.S. |
| Journal | Mol. Genet. Metab. 93 (4), 371-380 (2008) |
| Title | Binding of pyruvate dehydrogenase to the core of the human pyruvate dehydrogenase complex . |
| Author | Korotchkina,L.G. and Patel,M.S. |
| Journal | FEBS Lett. 582 (3), 468-472 (2008) |
| Title | Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit . |
| Author | Han,Z., Zhong,L., Srivastava,A. and Stacpoole,P.W. |
| Journal | J. Biol. Chem. 283 (1), 237-243 (2008) |
| Title | Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency . |
| Author | Brown,R.M., Head,R.A., Boubriak,I.I., Leonard,J.V., Thomas,N.H. and Brown,G.K. |
| Journal | Hum. Genet. 115 (2), 123-127 (2004) |
| Title | Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex . |
| Author | Chun,K., Mackay,N., Willard,H.F. and Robinson,B.H. |
| Journal | Eur. J. Biochem. 194 (2), 587-592 (1990) |
| Title | Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast . |
| Author | Huh,T.L., Casazza,J.P., Huh,J.W., Chi,Y.T. and Song,B.J. |
| Journal | J. Biol. Chem. 265 (22), 13320-13326 (1990) |
| Title | Cloning and cDNA sequence of the beta-subunit component of human pyruvate dehydrogenase complex . |
| Author | Ho,L. and Patel,M.S. |
| Journal | Gene 86 (2), 297-302 (1990) |
| Title | Three genes for enzymes of the pyruvate dehydrogenase complex map to human chromosomes 3, 7, and X . |
| Author | Olson,S., Song,B.J., Huh,T.L., Chi,Y.T., Veech,R.L. and McBride,O.W. |
| Journal | Am. J. Hum. Genet. 46 (2), 340-349 (1990) |
| Title | Isolation of tryptic fragment of antigen from mitochondrial inner membrane proteins reacting with antimitochondrial antibody in sera of patients with primary biliary cirrhosis . |
| Author | Muno,D., Kominami,E., Ishii,H., Usui,K., Saifuku,K., Sakakibara,Y. and Namihisa,T. |
| Journal | Hepatology 11 (1), 16-23 (1990) |
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 |