mitochondrial acetyl-CoA biosynthetic process from pyruvate
metabolism
pyruvate metabolic process
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
8050
27402
Ensembl
ENSG00000110435
ENSMUSG00000010914
UniProt
O00330
Q8BKZ9
RefSeq (mRNA)
NM_001135024 NM_001166158 NM_003477
NM_175094
RefSeq (protein)
NP_001128496 NP_001159630 NP_003468
NP_780303
Location (UCSC)
Chr 11: 34.92 – 35.02 Mb
Chr 2: 102.85 – 102.9 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
E3 binding protein also known as pyruvate dehydrogenase protein X component, mitochondrial is a protein that in humans is encoded by the PDHX gene.[5][6][7][8] The E3 binding protein is a component of the pyruvate dehydrogenase complex found only in eukaryotes. 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 primary biliary cholangitis, an autoimmune disease of the liver. In primary biliary cholangitis, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. Primary biliary cholangitis eventually leads to liver failure.[5]
^ abcGRCh38: Ensembl release 89: ENSG00000110435 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000010914 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Créau N, Kamoun P, Marsac C (Dec 1997). "Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis". American Journal of Human Genetics. 61 (6): 1318–26. doi:10.1086/301653. PMC 1716072. PMID 9399911.
^Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci-Uzielli ML, Robinson BH (Mar 1998). "Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency". Human Molecular Genetics. 7 (3): 501–5. doi:10.1093/hmg/7.3.501. PMID 9467010.
^Gawin B, Niederführ A, Schumacher N, Hummerich H, Little PF, Gessler M (Nov 1999). "A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1". Genome Research. 9 (11): 1074–86. doi:10.1101/gr.9.11.1074. PMC 310838. PMID 10568747.
and 22 Related for: E3 binding protein information
E3bindingprotein also known as pyruvate dehydrogenase protein X component, mitochondrial is a protein that in humans is encoded by the PDHX gene. The...
E1 and 12 copies of E3. Eukaryotes also contain 12 copies of an additional core protein, E3bindingprotein (E3BP) which bind the E3 subunits to the E2...
called an E3 ubiquitin ligase) is a protein that recruits an E2 ubiquitin-conjugating enzyme that has been loaded with ubiquitin, recognizes a protein substrate...
the uptake systems also have an extracytoplasmic receptor, a solute bindingprotein. Some homologous ATPases function in non-transport-related processes...
insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3bindingprotein of human pyruvate dehydrogenase complex". Structure. 14 (3): 611–21...
of E3-substrate interactions is a key cause of many human disorders, therefore identifying E3 ligase substrates is crucial. In 2008, 'Global Protein Stability...
protein followed soon thereafter by the Krüppel factor in Drosophila. It often appears as a metal-binding domain in multi-domain proteins. Proteins that...
covalently linked protein-binding molecules: one capable of engaging an E3 ubiquitin ligase, and another that binds to a target protein meant for degradation...
Binding immunoglobulin protein (BiPS) also known as 78 kDa glucose-regulated protein (GRP-78) or heat shock 70 kDa protein 5 (HSPA5) is a protein that...
E3 ligating proteins attaches it to the protein. In yeast, there are four SUMO E3proteins, Cst9, Mms21, Siz1 and Siz2. While in ubiquitination an E3...
CREB-TF (CREB, cAMP response element-bindingprotein) is a cellular transcription factor. It binds to certain DNA sequences called cAMP response elements...
Probable E3 ubiquitin-protein ligase DTX3 is a protein that in humans is encoded by the DTX3 gene. DTX3 functions as an E3 ubiquitin ligase (Takeyama...
Mouse double minute 2 homolog (MDM2) also known as E3 ubiquitin-protein ligase Mdm2 is a protein that in humans is encoded by the MDM2 gene. Mdm2 is an...
shock protein 90) is a chaperone protein that assists other proteins to fold properly, stabilizes proteins against heat stress, and aids in protein degradation...
defective proteins. Interaction with CHIP (Carboxyl-terminus of Hsp70 Interacting Protein)–an E3 ubiquitin ligase–allows Hsp70 to pass proteins to the cell's...
binding and stabilizing protein-protein interactions in biological systems. These molecules act as "glue" by enhancing the affinity between proteins,...
elements that mediate direct binding of the p53 protein, resulting in transcriptional activation of the gene encoding the p21 protein. The p53 and RB1 pathways...
sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific...
complex (or SCF complex) is a multi-proteinE3 ubiquitin ligase complex that catalyzes the ubiquitination of proteins destined for 26S proteasomal degradation...
belongs to the pocket protein family, whose members have a pocket for the functional binding of other proteins. Should an oncogenic protein, such as those produced...
HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of...
Global Information
