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MetaCyc Protein: pyruvate dehydrogenase E1 component (testis)

Species: Homo sapiens

Subunit composition of pyruvate dehydrogenase E1 component (testis) = [PDHB]2[PDHA2]2
         pyruvate dehydrogenase E1 component β subunit = PDHB (summary available)
         Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial = PDHA2

Gene-Reaction Schematic: ?

Gene-Reaction Schematic

Instance reactions of [a [lipoyl-carrier protein] N6-dihydrolipoyl-L-lysine + NAD+ → a [lipoyl-carrier protein] N6-lipoyl-L-lysine + NADH + H+] (1.8.1.4):
i1: a [pyruvate dehydrogenase E2 protein] N6-dihydrolipoyl-L-lysine + NAD+ ↔ a [pyruvate dehydrogenase E2 protein] N6-lipoyl-L-lysine + NADH + H+ (1.8.1.4)

i2: a [2-oxoglutarate dehydrogenase E2 protein] N6-dihydrolipoyl-L-lysine + NAD+ ↔ a [2-oxoglutarate dehydrogenase E2 protein] N6-lipoyl-L-lysine + NADH + H+ (1.8.1.4)

i3: a [glycine-cleavage complex H protein] N6-dihydrolipoyl-L-lysine + NAD+ ↔ a [glycine-cleavage complex H protein] N6-lipoyl-L-lysine + NADH + H+ (1.8.1.4)

i4: an [apo BCAA dehydrogenase E2 protein] N6-dihydrolipoyl-L-lysine + NAD+ ↔ an [apo BCAA dehydrogenase E2 protein] N6-lipoyl-L-lysine + NADH + H+ (1.8.1.4)

Credits:
Created in HumanCyc 04-Nov-2011 by Caspi R , SRI International
Imported from HumanCyc 04-Nov-2011 by Caspi R , SRI International


Subunit of pyruvate dehydrogenase E1 component (testis): pyruvate dehydrogenase E1 component β subunit

Synonyms: PDHE1-B

Gene: PDHB Accession Number: HS09727 (MetaCyc)

Locations: mitochondrion

Molecular Weight: 39.233 kD (from nucleotide sequence)

GO Terms:

Biological Process: GO:0006006 - glucose metabolic process
GO:0006096 - glycolytic process
GO:0006099 - tricarboxylic acid cycle
Molecular Function: GO:0004739 - pyruvate dehydrogenase (acetyl-transferring) activity
GO:0016491 - oxidoreductase activity
Cellular Component: GO:0005739 - mitochondrion

Unification Links: DIP:DIP-37651N , Mint:MINT-3007546 , PhosphoSite:P11177 , PhylomeDB:P11177 , Pride:P11177 , Protein Model Portal:P11177 , SMR:P11177 , String:9606.ENSP00000307241 , UniProt:P11177

Relationship Links: InterPro:IN-FAMILY:IPR005475 , InterPro:IN-FAMILY:IPR005476 , InterPro:IN-FAMILY:IPR009014 , InterPro:IN-FAMILY:IPR027110 , InterPro:IN-FAMILY:IPR029061 , Panther:IN-FAMILY:PTHR11624:SF56 , PDB:Structure:1NI4 , PDB:Structure:2OZL , PDB:Structure:3EXE , PDB:Structure:3EXF , PDB:Structure:3EXG , PDB:Structure:3EXH , PDB:Structure:3EXI , Pfam:IN-FAMILY:PF02779 , Pfam:IN-FAMILY:PF02780 , Smart:IN-FAMILY:SM00861

Summary:
cDNA clones encoding the β-subunit of the pyruvate dehydrogenase (E1) component of the human pyruvate dehydrogenase complex were isolated from multiple sources and sequenced [Ho88, Koike88, Ho90, Chun90, Huh90].

The PDHB gene encoding the enzyme was localized on chromosome 3 [Chun90] and is composed of 10 exons and 9 introns [Koike90].

Mutations in the gene can cause pyruvate dehydrogenase deficiency [Brown04].


Subunit of pyruvate dehydrogenase E1 component (testis): Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial

Synonyms: PDHE1-A type II

Gene: PDHA2 Accession Number: HS08790 (MetaCyc)

Locations: mitochondrion

Sequence Length: 460 AAs

GO Terms:

Biological Process: GO:0006096 - glycolytic process
GO:0008152 - metabolic process
Molecular Function: GO:0004739 - pyruvate dehydrogenase (acetyl-transferring) activity
GO:0016491 - oxidoreductase activity
Cellular Component: GO:0005739 - mitochondrion


References

Brown04: Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK (2004). "Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency." Hum Genet 115(2);123-7. PMID: 15138885

Chun90: Chun K, Mackay N, Willard HF, Robinson BH (1990). "Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex." Eur J Biochem 194(2);587-92. PMID: 1702713

Ho88: Ho L, Javed AA, Pepin RA, Thekkumkara TJ, Raefsky C, Mole JE, Caliendo AM, Kwon MS, Kerr DS, Patel MS (1988). "Identification of a cDNA clone for the beta-subunit of the pyruvate dehydrogenase component of human pyruvate dehydrogenase complex." Biochem Biophys Res Commun 150(3);904-8. PMID: 2829898

Ho90: Ho L, Patel MS (1990). "Cloning and cDNA sequence of the beta-subunit component of human pyruvate dehydrogenase complex." Gene 86(2);297-302. PMID: 2323578

Huh90: Huh TL, Casazza JP, Huh JW, Chi YT, Song BJ (1990). "Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast." J Biol Chem 265(22);13320-6. PMID: 2376596

Koike88: Koike K, Ohta S, Urata Y, Kagawa Y, Koike M (1988). "Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase." Proc Natl Acad Sci U S A 85(1);41-5. PMID: 3422424

Koike90: Koike K, Urata Y, Koike M (1990). "Molecular cloning and characterization of human pyruvate dehydrogenase beta subunit gene." Proc Natl Acad Sci U S A 87(15);5594-7. PMID: 2377599


Report Errors or Provide Feedback
Please cite the following article in publications resulting from the use of MetaCyc: Caspi et al, Nucleic Acids Research 42:D459-D471 2014
Page generated by SRI International Pathway Tools version 19.0 on Wed Jul 29, 2015, biocyc14.