LOCUS NP_000916 359 aa linear PRI 22-OCT-2008
DEFINITION pyruvate dehydrogenase (lipoamide) beta [Homo sapiens].
ACCESSION NP_000916
VERSION NP_000916.2 GI:156564403
DBSOURCE REFSEQ: accession NM_000925.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 359)
AUTHORS Okajima,K., Korotchkina,L.G., Prasad,C., Rupar,T., Phillips,J.A.
III, Ficicioglu,C., Hertecant,J., Patel,M.S. and Kerr,D.S.
TITLE Mutations of the E1beta subunit gene (PDHB) in four families with
pyruvate dehydrogenase deficiency
JOURNAL Mol. Genet. Metab. 93 (4), 371-380 (2008)
PUBMED 18164639
REMARK GeneRIF: clinical findings are similar to those of PDHA1
deficiency, except that ataxia was more frequent in PDHA1 cases and
consanguinity was found only in PDHB families.
REFERENCE 2 (residues 1 to 359)
AUTHORS Korotchkina,L.G. and Patel,M.S.
TITLE Binding of pyruvate dehydrogenase to the core of the human pyruvate
dehydrogenase complex
JOURNAL FEBS Lett. 582 (3), 468-472 (2008)
PUBMED 18206651
REMARK GeneRIF: Species specificity in the interaction between hE1beta and
hE2 in pyruvate dehydrogenase complex.
REFERENCE 3 (residues 1 to 359)
AUTHORS Han,Z., Zhong,L., Srivastava,A. and Stacpoole,P.W.
TITLE Pyruvate dehydrogenase complex deficiency caused by ubiquitination
and proteasome-mediated degradation of the E1 subunit
JOURNAL J. Biol. Chem. 283 (1), 237-243 (2008)
PUBMED 17923481
REMARK GeneRIF: Data indicate that PDH deficiency in our patient involves
a post-translational modification in which EGFR-PTK-mediated
tyrosine phosphorylation of the E1beta protein leads to enhanced
ubiquitination followed by proteasome-mediated degradation.
REFERENCE 4 (residues 1 to 359)
AUTHORS Brown,R.M., Head,R.A., Boubriak,I.I., Leonard,J.V., Thomas,N.H. and
Brown,G.K.
TITLE Mutations in the gene for the E1beta subunit: a novel cause of
pyruvate dehydrogenase deficiency
JOURNAL Hum. Genet. 115 (2), 123-127 (2004)
PUBMED 15138885
REFERENCE 5 (residues 1 to 359)
AUTHORS Ciszak,E.M., Korotchkina,L.G., Dominiak,P.M., Sidhu,S. and
Patel,M.S.
TITLE Structural basis for flip-flop action of thiamin
pyrophosphate-dependent enzymes revealed by human pyruvate
dehydrogenase
JOURNAL J. Biol. Chem. 278 (23), 21240-21246 (2003)
PUBMED 12651851
REFERENCE 6 (residues 1 to 359)
AUTHORS Chun,K., Mackay,N., Willard,H.F. and Robinson,B.H.
TITLE Isolation, characterization and chromosomal localization of cDNA
clones for the E1 beta subunit of the pyruvate dehydrogenase
complex
JOURNAL Eur. J. Biochem. 194 (2), 587-592 (1990)
PUBMED 1702713
REFERENCE 7 (residues 1 to 359)
AUTHORS Huh,T.L., Casazza,J.P., Huh,J.W., Chi,Y.T. and Song,B.J.
TITLE Characterization of two cDNA clones for pyruvate dehydrogenase E1
beta subunit and its regulation in tricarboxylic acid
cycle-deficient fibroblast
JOURNAL J. Biol. Chem. 265 (22), 13320-13326 (1990)
PUBMED 2376596
REFERENCE 8 (residues 1 to 359)
AUTHORS Ho,L. and Patel,M.S.
TITLE Cloning and cDNA sequence of the beta-subunit component of human
pyruvate dehydrogenase complex
JOURNAL Gene 86 (2), 297-302 (1990)
PUBMED 2323578
REFERENCE 9 (residues 1 to 359)
AUTHORS Olson,S., Song,B.J., Huh,T.L., Chi,Y.T., Veech,R.L. and
McBride,O.W.
TITLE Three genes for enzymes of the pyruvate dehydrogenase complex map
to human chromosomes 3, 7, and X
JOURNAL Am. J. Hum. Genet. 46 (2), 340-349 (1990)
PUBMED 1967901
REMARK Erratum:[Am J Hum Genet 1990 Jun;46(6):1235]
REFERENCE 10 (residues 1 to 359)
AUTHORS Muno,D., Kominami,E., Ishii,H., Usui,K., Saifuku,K., Sakakibara,Y.
and Namihisa,T.
TITLE Isolation of tryptic fragment of antigen from mitochondrial inner
membrane proteins reacting with antimitochondrial antibody in sera
of patients with primary biliary cirrhosis
JOURNAL Hepatology 11 (1), 16-23 (1990)
PUBMED 2295468
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
CR591704.1, CR604919.1 and AL706543.1.
On Aug 29, 2007 this sequence version replaced gi:4505687.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..359
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p21.1-p14.2"
Protein 1..359
/product="pyruvate dehydrogenase (lipoamide) beta"
/EC_number="1.2.4.1"
/note="Pyruvate dehydrogenase, E1 beta polypeptide"
/calculated_mol_wt=39102
CDS 1..359
/gene="PDHB"
/gene_synonym="PHE1B"
/gene_synonym="DKFZp564K0164"
/coded_by="NM_000925.2:30..1109"
/db_xref="CCDS:CCDS2890.1"
/db_xref="GeneID:5162"
/db_xref="HGNC:8808"
/db_xref="HPRD:01530"
/db_xref="MIM:179060"
ORIGIN
1 maavsglvrr plrevsgllk rrfhwtapaa lqvtvrdain qgmdeelerd ekvfllgeev
61 aqydgaykvs rglwkkygdk riidtpisem gfagiavgaa maglrpicef mtfnfsmqai
121 dqvinsaakt yymsgglqpv pivfrgpnga sagvaaqhsq cfaawyghcp glkvvspwns
181 edakgliksa irdnnpvvvl enelmygvpf efppeaqskd flipigkaki erqgthitvv
241 shsrpvghcl eaaavlskeg vecevinmrt irpmdmetie asvmktnhlv tveggwpqfg
301 vgaeicarim egpafnflda pavrvtgadv pmpyakiled nsipqvkdii faikktlni
//